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1.
BMC Psychiatry ; 24(1): 354, 2024 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-38730372

RESUMO

BACKGROUND: Little is known about the state of psychological distress of the elderly in China, and research on specific subgroups such as Hakka older adults is almost lacking. This study investigates psychache and associated factors among Hakka elderly in Fujian, China. METHODS: The data analysed in this study were derived from China's Health-Related Quality of Life Survey for Older Adults 2018. The Chinese version of the Psychache Scale (PAS) was used to assess the frequency and intensity of psychache in Hakka older adults. Generalized linear regression analysis was conducted to identify the main socio-demographic factors associated with psychache overall and its frequency and intensity. RESULTS: A total of 1,262 older adults participated, with mean scores of 18.27 ± 6.88 for total PAS, 12.50 ± 4.79 for PAS-Frequency and 5.77 ± 2.34 for PAS-Intensity. On average, females scored higher than males on PAS-Frequency (ß = 0.84, 95% CI = 0.34, 1.35) and PAS-Intensity (ß = 0.48, 95% CI = 0.22, 0.73). Older adults currently living in towns (ß = -2.18, 95% CI = -2.81, -1.54), with their spouse only (ß = -3.71, 95% CI = -4.77, -2.65), or with children (ß = -3.24, 95% CI = -4.26, -2.22) were more likely to score lower on PAS-Frequency. Conversely, older adults who were regular sleepers (ß = -1.19, 95% CI =-1.49, -0.88) or lived with their spouse only (ß = -1.25, 95% CI = -1.78, -0.72) were more likely to score lower on PAS-Intensity. CONCLUSION: Among Hakka elderly, we found a higher frequency and greater intensity of psychache in females, those with poor health status, irregular sleepers, rural residents, solo dwellers, those with below CNY 10,000 in personal savings, and the medically uninsured. The study's findings indicate that policymakers should give more attention to the susceptible population and implement practical interventions to reduce their psychological burden.


Assuntos
Qualidade de Vida , Humanos , Masculino , Feminino , China/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Qualidade de Vida/psicologia , Angústia Psicológica , Pessoa de Meia-Idade , Fatores Sexuais
2.
Ann Hum Genet ; 87(5): 232-240, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37337755

RESUMO

BACKGROUND: X chromosomeshort tandem repeat (X-STR) loci are playing an increasingly important role inforensic work, identifying female traces in male contamination and explainingcomplex kinship analyses. METHODS: In this study, we analyzed thegenetic polymorphism of 19 X-STR loci in the Guangdong Hakka, Teochew and Cantonese groups, respectively, aswell as in the Guangdong Hakka, Teochew andCantonese pooled Han. The genetic diversity and forensic characteristics of the19 X-STRs and 7 linkage groups were investigated, respectively. RESULTS: The experiments showed that the genetic diversity (GD) and polymorphism information content (PIC) in the pooledGuangdong Han ranged from 0.5320 to 0.9234 and 0.4369 to 0.9171, respectively, and the cumulative power of discrimination for males (PDM), power of discrimination for females (PDF) and mean paternity exclusion chance (MEC) were higher than 0.9999999, indicating that the 19 X-STRs had high geneticpolymorphism and discriminatory power. Genetic differences among Chinese Hansubgroups and among different Chinese populations were investigated byphylogenetic reconstruction and principal component analysis (PCA), respectively. Genetic analyses based on neighbor-joining (NJ) tree and principal component analysis plot showed that Cantonese, Teochew and Hakka were closely genetically related, and different populations with closer linguistic components had more genetic affinity. CONCLUSIONS: This study adds to the forensic X-STR database and demonstrates the forensic efficiency of 19 X-STRs for the Hakka, Teochewand Cantonese populations in Guangdong, and the pooled Han of Hakka, Teochewand Cantonese people in Guangdong.


Assuntos
Cromossomos Humanos X , Repetições de Microssatélites , Polimorfismo Genético , Feminino , Humanos , Masculino , Povo Asiático/genética , China , Frequência do Gene , Genética Populacional , Análise de Componente Principal , Cromossomos Humanos X/genética
3.
BMC Cardiovasc Disord ; 23(1): 185, 2023 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-37024851

RESUMO

BACKGROUND: Genetic factors have a certain proportion in the risk factors of hypertension. The purpose was to investigate the relationship of cytochrome P450 2C19 (CYP2C19) polymorphisms with hypertension in Hakka population. METHODS: The study included 1,872 hypertensive patients and 1,110 controls. The genotypes of CYP2C19 rs4244285 and rs4986893 of all individuals were detected and analyzed. RESULTS: The genotype and allele distributions of CYP2C19 rs4244285 were significantly different between hypertension group and control group. The CYP2C19 *1/*1 genotype was the most predominant among the subjects (40.8%), followed by the CYP2C19 *1/*2 genotype (40.5%). The percentage of CYP2C19*1, *2, and *3 allele was 64.2%, 30.8%, and 5.0%, respectively. The proportion of intermediate metabolizers (IM) (49.3% vs. 42.9%), poor metabolizers (PM) (14.3% vs. 8.9%) (P < 0.001), and CYP2C19*2 allele (33.8% vs. 25.7%, P < 0.001) in hypertension group was significantly higher than that in control group. Multivariate logistic regression (adjusted for gender, age, smoking, and drinking) indicated that CYP2C19 *1/*2, *1/*3, and *2/*2 genotypes may increase susceptibility to hypertension. And the CYP2C19 IM genotype (IM vs. EM: OR 1.514, 95% CI: 1.291-1.775, P < 0.001), PM genotype (PM vs. EM: OR 2.120, 95% CI: 1.638-2.743, P < 0.001), IM + PM genotypes (IM + PM vs. EM: OR 1.617, 95% CI: 1.390-1.882, P < 0.001) may increase risk of hypertension. CONCLUSIONS: CYP2C19 loss-of-function (IM, PM genotypes) is independent risk factor for hypertension susceptibility. Specifically, the risk genotypes include CYP2C19 *1/*2, *1/*3, and *2/*2.


Assuntos
Hipertensão , Polimorfismo Genético , Humanos , Estudos de Casos e Controles , Citocromo P-450 CYP2C19/genética , Genótipo , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Hipertensão/genética
4.
BMC Public Health ; 23(1): 2384, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-38041027

RESUMO

BACKGROUND: Behavioral lifestyles are important social determinants of health. The impact of changes in living arrangements on behavioral lifestyles is currently under-explored. This study aims to examine the association between living arrangements and health risk behaviors among the Hakka older adults. METHODS: Data were extracted from China's Health-Related Quality of Life Survey for Older Adults 2018. Living arrangements were divided into five categories: living alone, living with spouse only, living with child, mixed habitation, and others. Five health risk behaviors, including unhealthy dietary patterns, drinking, smoking, irregular sleep practices, and physical inactivity were measured. Logistic regression analysis was used to assess the association between living arrangements and specific health risk behaviors, and generalized linear models were established to test the association between living arrangements and the number of health risk behaviors. RESULTS: A total of 1,262 Hakka older adults were included in this study. Compared to those living alone, those living with spouse only were less likely to have unhealthy dietary patterns (OR = 0.45, P < 0.05) and drinking (OR = 0.50, P < 0.05), those living with the child were less likely to experience unhealthy dietary patterns (OR = 0.35, P < 0.001), drinking (OR = 0.32, P < 0.001), smoking (OR = 0.49, P < 0.05), and physical inactivity (OR = 0.13, P < 0.01). Moreover, those who were living with child (ß = -0.78, P < 0.001) or mixed habitation (ß = -0.33, P < 0.05) tended to engage in fewer health risk behaviors than those living alone. CONCLUSIONS: This study suggests significant differences in health risk behaviors among the Hakka older adults with different living arrangements. Living with the child could reduce the occurrence of health risk behaviors in the Hakka older adults and thus maintain their health status.


Assuntos
Comportamentos de Risco à Saúde , Qualidade de Vida , Criança , Humanos , Idoso , Características de Residência , Nível de Saúde , Fumar/epidemiologia , China/epidemiologia
5.
J Clin Lab Anal ; 37(2): e24837, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36604811

RESUMO

BACKGROUND: Hepatitis B virus (HBV) infection remains a major public health issue worldwide. Moreover, its prevalence varies significantly in different geographic areas of China. The current study aimed to assess the prevalence of HBV infection among Hakka pregnant women in Meizhou, a remote mountainous region in southern China. METHODS: This research was performed between January 2015 and December 2020. In total, 16,727 pregnant women receiving antenatal care at Meizhou People's Hospital were included in the analysis. All pregnant women were screened for serum HBV markers. RESULTS: The prevalence rates of hepatitis B surface antigen (HBsAg) and hepatitis B surface antibody positivity among the participants were 11.74% (n = 1964) and 48.00% (n = 8029), respectively. The overall prevalence rates of susceptibility to infection, HBV immunity, previous/occult infection, inactive HBsAg carrier, and active infection were 36.16%, 33.61%, 16.94%, 8.11%, and 2.30%, respectively. According to age distribution, the prevalence rate of HBsAg positivity elevated concomitantly with increasing age (p < 0.001). From 2015 to 2020, the prevalence rate of HBsAg positivity decreased from 14.50% to 8.19% and that of hepatitis B pre-core antigen positivity from 4.42% to 2.31%. In addition, pregnant women with HBsAg-positive status were more likely to present with gestational diabetes, thrombocytopenia, and anemia than those with HBsAg-negative status. CONCLUSION: The HBV infection rate remains high among pregnant women in the indigenous Hakka population in southern China. To prevent vertical transmission, cautious surveillance of maternal HBV infection status should be considered in Hakka pregnant women in Meizhou.


Assuntos
Hepatite B , Complicações Infecciosas na Gravidez , Feminino , Gravidez , Humanos , Vírus da Hepatite B , Gestantes , Antígenos de Superfície da Hepatite B , Estudos Retrospectivos , Prevalência , China/epidemiologia
6.
Environ Dev Sustain ; : 1-18, 2023 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-37363008

RESUMO

The Hakka people, a branch of the Han nationality with their own language, culture, and customs, are one of the largest immigrant groups worldwide, primarily distributed in southern China. Bobai, a county with the largest Hakka population globally, has a thriving weaving industry that is one of the local pillar industries. This study aimed to systematically analyze the plant source, product function, and development model of Bobai Hakka weaving. The study recorded 33 plant species for weaving, which belonged to 17 families and 27 genera. The weaving plants were mainly bamboo, rattan, grass, and wood, with herbs being the most commonly used (15 species, 45.5%). Most weaving plants were obtained locally (16 species, 41.0%) and from wild sources (13 species, 33.3%). Stems were the most commonly used plant parts (66.7%) in local weaving, followed by leaf sheaths, inflorescence stems, leaves, stem bark, leaf rachis, and female bracts. Additionally, wastes from crops such as wheat, rice, bananas, and corn, as well as invasive water hyacinths, were widely used as weaving materials by the local Hakka people. The products' functions ranged from household appliances, cultural and entertainment products, furniture, to production tools, reflecting a range of conventional cultural connotations. The study found that the Bobai Hakka weaving industry had integrated modern elements and additional use value to expand its market appeal. With the participation of the government, enterprises, and farmers, the Bobai weaving industry has formed a development model of "intangible cultural heritage + industry + poverty alleviation," which has become a successful case of poverty alleviation and rural revitalization.

7.
BMC Cancer ; 22(1): 842, 2022 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-35918668

RESUMO

OBJECTIVE: To investigate the prevalence and spectrum of BRCA1 and BRCA2 mutations in Chinese Hakka patients with breast and ovarian cancer. METHODS: A total of 1,664 breast or ovarian cancer patients were enrolled for genetic testing at our hospital. Germline mutations of the BRCA gene were analysed by next-generation sequencing, including the coding regions and exon intron boundary regions. RESULTS: The 1,664 patients included 1,415 (85.04%) breast cancer patients and 245 (14.72%) ovarian cancer patients, while four (0.24%) patients had both the breast and ovarian cancers. A total of 151 variants, including 71 BRCA1 variants and 80 BRCA2 variants, were detected in the 234 (14.06%) patients. The 151 variants included 58 pathogenic variants, 8 likely pathogenic variants, and 85 variants of unknown significance (VUS). A total of 56.25% (18/32) and 65.38% (17/26) of pathogenic variants (likely pathogenic variants are not included) were distributed in exon 14 of BRCA1 and exon 11 of BRCA2, respectively. The most common pathogenic variants among this Hakka population are c.2635G > T (p.Glu879*) (n = 7) in the BRCA1 gene and c.5164_5165del (p.Ser1722Tyrfs*4) (n = 7) in the BRCA2 gene among the Hakka population. A hotspot mutation in the Chinese population, the BRCA1 c.5470_5477del variant was not found in this Hakka population. The prevalence and spectrum of variants in the BRCA genes in the Hakka patients are different from that in other ethnic groups. CONCLUSIONS: The most common pathogenic variant in this population is c.2635G > T in the BRCA1 gene, and c.5164_5165delAG in the BRCA2 gene in this population. The prevalence and spectrum of variants in the BRCA1 and BRCA2 genes in the Hakka patients from southern China are different from those in other ethnic groups.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Carcinoma Epitelial do Ovário/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Células Germinativas/patologia , Mutação em Linhagem Germinativa , Humanos , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética
8.
BMC Cardiovasc Disord ; 22(1): 128, 2022 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-35346052

RESUMO

BACKGROUND: Genetic factors play an important role in susceptibility to hypertension. Herein, the association between acetaldehyde dehydrogenase 2 (ALDH2) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and hypertension was analyzed among Hakka population in southern China. METHODS: A total of 3057 hypertensive patients and 2215 controls were enrolled. The ALDH2 rs671 and MTHFR rs1801133 genotyping were analyzed using gene chip. Relevant information and medical records of these subjects were collected. RESULTS: Hypertensive patients with ALDH2 rs671 G/A heterozygous had lower systolic blood pressure (SBP) than other genotypes (P < 0.001), while hypertensive patients with A allele had lower diastolic blood pressure (DBP) than patients with G allele (P < 0.001). The level of plasma homocysteine (Hcy) in patients with MTHFR CC, CT and TT genotypes showed an increasing trend (P < 0.001). The ALDH2 G/A genotype in the co-dominant model (adjusted OR 1.251, 95% CI 1.024-1.528, P = 0.028) and ALDH2 A/A genotype in the recessive model (adjusted OR 1.221, 95% CI 1.008-1.478, P = 0.041) were significant risk factors for the presence of hypertension. The MTHFR C/T genotype in the co-dominant model (adjusted OR 1.307, 95% CI 1.039-1.643, P = 0.022) and MTHFR C/T and T/T genotypes in the dominant model (adjusted OR 1.281, 95% CI 1.146-1.430, P < 0.001) were significant risk factors for the presence of hypertension. Further, logistic regression analysis showed that age, smoking, alcohol consumption, hyperhomocysteinemia, and high level of serum TG, Apo-A1, Apo-B were significant risks for hypertension. CONCLUSIONS: In summary, ALDH2 rs671 G/A, A/A genotypes and MTHFR rs1801133 C/T, T/T genotypes may be risk factors for hypertension in this Chinese Hakka population.


Assuntos
Aldeído-Desidrogenase Mitocondrial , Hipertensão , Metilenotetra-Hidrofolato Redutase (NADPH2) , Aldeído-Desidrogenase Mitocondrial/genética , Pressão Sanguínea , China/epidemiologia , Humanos , Hipertensão/diagnóstico , Hipertensão/etnologia , Hipertensão/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético
9.
J Clin Lab Anal ; 36(12): e24789, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36426922

RESUMO

BACKGROUND: The susceptibility to some cancers is linked to genetic factors, such as aldehyde dehydrogenase 2 (ALDH2) polymorphisms. The relationship between ALDH2 rs671 and colorectal cancer (CRC) is not clear in Hakka population. METHODS: Between October 2015 and December 2020, a total of 178 CRC patients and 261 controls were recruited. ALDH2 rs671 was genotyped in these subjects, medical records (smoking history, drinking history and blood cell parameters) were collected, and the relationship between these information and CRC was analyzed. RESULTS: The proportion of the ALDH2 rs671 G/G, G/A, and A/A genotype was 48.3%, 44.4%, and 7.3% in patients; 62.1%, 34.1%, and 3.8% in controls, respectively. The difference of ALDH2 genotypes distribution between cases and controls was statistically significant (p = 0.011). The higher percentage of smokers and alcoholics, higher level of neutrophil to lymphocyte ratio (NLR), platelet count, and platelet to lymphocyte ratio (PLR), and lower level of lymphocyte count, lymphocyte to monocyte ratio (LMR), and mean hemoglobin concentration were observed in patients. Logistic regression analysis indicated that ALDH2 rs671 G/A genotype (G/A vs. G/G) (adjusted OR 1.801, 95% CI 1.160-2.794, p = 0.009) and A/A genotype (A/A vs. G/G) (adjusted OR 2.630, 95% CI 1.041-6.645, p = 0.041) in the co-dominant model, while G/A + A/A genotypes (G/A + A/A vs. G/G) (adjusted OR 1.883, 95% CI 1.230-2.881, p = 0.004) in the dominant model were risk factors for CRC. CONCLUSIONS: Individuals carrying ALDH2 rs671 A allele (G/A, A/A genotypes) may be at increased risk of colorectal cancer.


Assuntos
Neoplasias Colorretais , Polimorfismo Genético , Humanos , Aldeído-Desidrogenase Mitocondrial/genética , Alelos , Fatores de Risco , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Hospitais , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/genética , Consumo de Bebidas Alcoólicas/genética
10.
Int J Legal Med ; 135(2): 443-444, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32030456

RESUMO

The genetic polymorphism of 17 autosomal short tandem repeat (STR) loci included in the PowerPlex® 18D System was evaluated from 638 unrelated healthy Han individuals of Meizhou in Guangdong Province, Southern China. The values of combined power of discrimination (CPD) and the combined probability of exclusion (CPE) were observed as 0.999999999999999 and 0.999999933. Penta E showed the highest values of polymorphism information content (0.9073), expected heterozygosity (0.9147), and observed heterozygosity (0.9373), whereas TPOX showed the lowest (0.5373, 0.6035, and 0.6082). Furthermore, both of the PCA plot and neighbor-joining phylogenetic tree showed that the Meizhou Hakka population has a relatively close genetic relationship with the Guangdong Han population. The results showed that most of these 17 autosomal STR loci were highly informative and can be effective for forensic individual identification and paternity testing in Meizhou Hakka population.


Assuntos
Povo Asiático/genética , Etnicidade/genética , Variação Genética , Repetições de Microssatélites , Polimorfismo Genético , China/etnologia , Humanos
11.
Lipids Health Dis ; 20(1): 123, 2021 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-34587962

RESUMO

BACKGROUND: The relationship between the APOE gene polymorphism and lipid profiles and atrial fibrillation (AF) remains controversial. The current study purposed to investigate how the APOE gene SNPs (rs429358 and rs7412) and lipid profile are associated with the risk for AF among the Hakka population in southern China. METHODS: Finally, 1367 patients were enrolled in this study, including 706 participants with AF (41 ~ 98 years old, 58.64 % male) and 661 non-AF subjects (28 ~ 95 years old, 59.46 % male). The collected data included baseline characteristics, medical history, laboratory tests and echocardiography parameters. A general linear model (two-way analysis of variance (ANOVA)) and Tukey post-hoc tests were applied to identify an APOE allele, AF group, and interaction effect on lipid profiles. Logistic regression analysis was performed to identify risk factors for AF. RESULTS: For AF group, the most common genotype was E3/E3 (53.82 %), followed by E3/E4 (28.19 %), E2/E3 (13.60 %), E4/E4 (1.98 %), E2/E4 (1.84 %) and E2/E2 (0.57 %). The two-way ANOVA followed by the Tukey procedure showed the following: the lipid levels depended significantly on AF and APOE allele groups for TG, TC, LDL-C and Apo-B (all P < 0.001), and statistically significant interactions between AF and APOE allele were observed in the above 4 variables (all P < 0.05). Multivariate regression analysis indicated that age ≥ 65years (P < 0.001), high diastolic blood pressure (DBP ≥ 90mm Hg, P = 0.018), a high levels of total cholesterol (TC ≥ 5.2mmol/L, P < 0.001) and triglyceride (TG ≥ 1.7mmol/L, P = 0.028), but not the two SNPs of the APOE gene (rs7412 and rs429358) (OR 1.079, P = 0.683), were significant independent risk factors for AF in the study population. CONCLUSIONS: The principal findings of this study showed that individuals at high risk for AF were those over 65 years of age, higher DBP as well as high levels of TC and TG among the southern China Hakka population. The levels of TG, TC, LDL-C and Apo-B depended significantly on AF and APOE allele groups, and statistically significant interactions between AF and APOE allele were observed in the above 4 variables, although the APOE gene SNPs (rs429358 and rs7412) were no significant risk for AF incidence. Further investigation is needed to elucidate whether other SNPs of the APOE gene have a bearing on AF incidents.


Assuntos
Apolipoproteínas E/genética , Fibrilação Atrial/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Pressão Sanguínea , China/epidemiologia , Eletrocardiografia/métodos , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Modelos Lineares , Desequilíbrio de Ligação , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Risco , Fatores de Risco
12.
J Clin Lab Anal ; 35(7): e23855, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34033144

RESUMO

BACKGROUND: Alcoholic liver cirrhosis (ALC) endangering people's health. The association between aldehyde dehydrogenase 2 (ALDH2) gene polymorphisms and ALC is not clear. To analyze the relationship between ALDH2 and ALC among Hakka population in southern China. METHODS: A total of 292 ALC patients and 278 controls were included in the study. The ALDH2 gene rs671 polymorphism was analyzed by polymerase chain reaction (PCR)-gene chip. Relevant information and medical records of these participants were collected. RESULTS: The ALC patients had higher percentage of smoking, lower prevalence of hypertension, higher level of alanine aminotransferase (ALT), aspertate aminotransferase (AST), alkaline phosphatase (ALP), gamma-glutamyltransferase (GGT), total bile acid (TBA), total bilirubin (Tbil), and direct bilirubin (Dbil), lower level of total cholesterol (TC), high-density lipoprotein-cholesterol (HDL-C), and low-density lipoprotein-cholesterol (LDL-C) than controls. The proportions of the G/A genotype (p = 0.017), G/A plus A/A genotype (p = 0.023) and A allele (p = 0.031) were significantly higher in ALC patients than that of controls. ALC patients with G/A genotype had higher TC, HDL-C, and Apo-A1 than those with G/G genotype, while with A allele had higher HDL-C, and Apo-A1 than those with G allele. Logistic regression analysis indicated that ALDH2 SNP rs671 G/A plus A/A genotypes (A allele carriers) (OR 2.030, 95% CI 1.109-3.715, p = 0.022) in the dominant model was the risk factor for ALC. CONCLUSIONS: ALDH2 A allele (G/A + A/A genotypes) increased the risk of developing ALC among Hakka people in southern China. The results should enrich the relevant data and provide valuable information for the future related research.


Assuntos
Aldeído-Desidrogenase Mitocondrial/genética , Povo Asiático/genética , Etnicidade/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Cirrose Hepática Alcoólica/enzimologia , Cirrose Hepática Alcoólica/genética , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Humanos , Cirrose Hepática Alcoólica/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco
13.
J Clin Lab Anal ; 35(9): e23925, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34313350

RESUMO

OBJECTIVE: To analyze the relationship of Apolipoprotein E (APOE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene polymorphisms with coronary artery disease (CAD). METHODS: 1,129 CAD patients and 1,014 non-CAD controls were included in the study, and relevant information and medical records were collected. The single-nucleotide polymorphisms (SNPs) were analyzed, including rs429358, rs7412 in APOE gene and rs2306283, rs4149056 in SLCO1B1 gene. RESULTS: The CAD patients' average age was 66.3 ± 10.7 years, while 65.5 ± 12.0 years in controls. The frequencies of APOE allele ɛ3, ɛ4, and ɛ2 were 83.01%, 10.08%, and 6.91% respectively. There were statistically significant differences in genotype ɛ3/ɛ4 (χ2  = 8.077, p = 0.005) in CAD patients compared with the controls. The SLCO1B1 genotype *1b/*1b and haplotype *1b showed the highest frequency in the study sample. Moreover, ε4 carriers had significantly lower HDL-C, Apo-A1 levels than ε3 carriers among CAD patients, while ε2 carriers showed lower LDL-C, Apo-B level, and higher Apo-A1/Apo-B level than ε3 and ε4 carriers. In controls, ε2 carriers showed lower LDL-C and Apo-B level, higher Apo-A1, and Apo-A1/Apo-B level than ε4 carriers. Logistic regression analysis showed that high LDL-C and Apo-B level, low HDL-C level, smoking, and the ε4 allele were risks for the presence of CAD. CONCLUSIONS: APOE ε4 allele may be associated with susceptibility to CAD in southern Chinese Hakka population. It indicated that the APOE SNPs rs429358 and rs7412 are associated with CAD, but not SNPs rs2306283 and rs4149056 of SLCO1B1 gene.


Assuntos
Apolipoproteínas E/genética , Biomarcadores/sangue , Doença da Artéria Coronariana/epidemiologia , Predisposição Genética para Doença , Lipídeos/sangue , Polimorfismo de Nucleotídeo Único , Idoso , Alelos , Estudos de Casos e Controles , China/epidemiologia , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/genética , Doença da Artéria Coronariana/patologia , Feminino , Seguimentos , Genótipo , Haplótipos , Humanos , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Risco
14.
Niger J Clin Pract ; 24(6): 814-820, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34121727

RESUMO

AIMS: The aim of the present study was to investigate mutation status of the cKit and PDGFRA genes in patients with a gastrointestinal stromal tumor (GIST). METHODS: In total, 96 patients with a GIST were included in the study, in which polymerase chain reaction amplification and gene sequencing were used to detect the sequences of exons 9, 11, 12, 13, 14, 17, and 18 in KIT and exons 12, 14, and 18 in PDGFRA. RESULTS: KIT mutations were detected in 65 cases (67.71%), of which 81.54% (53/65) were located on exon 11, 12.31% (8/65) were located on exon 9, 4.61% (3/65) were located on exon 17, which included a concomitant mutation of exon 9 and 11, and 4.08% (2/65) were located on exon 13, which included a concomitant mutation on exon 11. The most common mutation in exon 11 was deletion, which accounted for 77.36% (41/53) of the cases, followed by a point mutation observed in 22.64% (12/53) of the cases. Among the 31 GIST cases without a KIT mutation, a mutation in PDGFRA was detected in 5 cases (5.21%, 5/96; 16.13%, 5/31). With respect to gender, age, tumor max diameter, tumor position, and mitotic index, there were no significant differences between KIT/PDGFRA mutations and non-mutations. CONCLUSIONS: GIST mainly occurs in the stomach, and the cytological morphology is mainly spindle cells, and the mutations mainly occur in KIT genes. We need a large sample size to analyze the regularity of GIST gene mutations in Hakka population and understand the independent prognostic correlation of all KIT/PDGFRA genotypes.


Assuntos
Tumores do Estroma Gastrointestinal , Proteínas Proto-Oncogênicas c-kit , Receptor alfa de Fator de Crescimento Derivado de Plaquetas , China/epidemiologia , Tumores do Estroma Gastrointestinal/etnologia , Tumores do Estroma Gastrointestinal/genética , Humanos , Mutação , Proteínas Proto-Oncogênicas c-kit/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética
15.
BMC Cardiovasc Disord ; 20(1): 127, 2020 03 11.
Artigo em Inglês | MEDLINE | ID: mdl-32160861

RESUMO

BACKGROUND: Acute coronary syndrome (ACS) is the most serious type of coronary heart disease and is a global medical burden. The pathogenesis of ACS is very complex and still poorly understood. Epidemiologic studies have revealed that the manifestation of ACS are the results of the interactions between multiple environmental and genetic factors. The present study aimed to investigate the role of polymorphisms of MTHFR C677T and ALDH2 Glu504Lys as risk factors for ACS in a Hakka population in southern China. METHODS: Between September 1, 2015 and October 31, 2017, a total of 1957 individuals, including 860 ACS patients and 1097 controls were recruited. Blood samples were collected and genotypes were determined by DNA microarray chip method and direct sequencing method. RESULTS: For the MTHFR C677T polymorphism, frequencies of CC, CT, and TT genotypes were 53.60% versus 55.33, 39.53% versus 38.65 and 6.86% versus 6.02% in patients with ACS versus controls, respectively(p > 0.05). The differences in genotype frequencies between the ACS patients and controls in the three genetic model were not statistically significant. For the ALDH2 Glu504Lys polymorphism, the frequencies of ALDH2*1*1, ALDH2*1*2, and ALDH2*2*2 genotypes were 48.72, 42.67 and 8.6% in the ACS patients, respectively, while these were 53.33, 39.11 and 7.57% in the controls, respectively, showing no significant difference in the distribution of the ALDH2 genotype between the groups. Using the wild genotype ALDH2*1*1 as reference, relative risk analysis revealed a slightly increased risk for ACS in individuals with the ALDH2*1*2 plus ALDH2*2*2 genotypes (odds ratio (OR) = 1.203, 95% confidence interval (CI) = 1.006-1.438, p = 0.043). In a multivariate logistic regression model, even after adjusting for potential covariates, the association between ALDH2 *2 allele and ACS remained significant (OR = 1.242, 95% CI = 1.045-1.561, p = 0.038). CONCLUSIONS: We present findings regarding the possible clinical impact of the ALDH2*2 variant on ACS patients in a Hakka population in southern China and our findings might help to stratify the high-risk ACS patients and implement appropriate strategies for this genetic subpopulation to ultimately guide the precision preventive procedures in the future.


Assuntos
Síndrome Coronariana Aguda/genética , Aldeído-Desidrogenase Mitocondrial/genética , Povo Asiático/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo de Nucleotídeo Único , Síndrome Coronariana Aguda/diagnóstico por imagem , Síndrome Coronariana Aguda/etnologia , Idoso , China/epidemiologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Fatores de Risco
16.
Lipids Health Dis ; 19(1): 139, 2020 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-32546237

RESUMO

BACKGROUND: Apolipoprotein E (APOE) is involved in the pathogenesis of atherosclerosis and conveys a higher risk of coronary artery disease (CAD). The aim of the present study was to investigate the possible association between APOE gene polymorphism and the risk of CAD in postmenopausal Hakka women in southern China. METHODS: The APOE genotypes of 653 CAD patients and 646 control participants were determined by the polymerase chain reaction (PCR) and hybridization to a Sinochip. RESULTS: The prevalence of each APOE genotype differed between CAD patients and control participants (P = 0.011). The E3/E3 genotype was the most common and the E2/E2 genotype was the least common in the study sample. Moreover, the presence of ε4 allele was associated with higher serum concentrations of triglycerides (TG), total cholesterol (TC) and low-density lipoprotein-cholesterol (LDL-C), and lower concentration of high-density lipoprotein-cholesterol (HDL-C). Multiple logistic regression analysis revealed that participants with ε4 allele have a significantly higher risk of CAD after adjustment for the presence of diabetes mellitus and hypertension, and their serum uric acid, TC, and LDL-C concentrations (adjusted odds ratio (OR) 1.50, 95% confidence interval (CI) 1.10-2.05, P = 0.010). CONCLUSIONS: The present results suggest that APOE polymorphism is associated with a higher risk of CAD in postmenopausal Hakka women in southern China.


Assuntos
Apolipoproteínas E/genética , Doença da Artéria Coronariana/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Idoso , Alelos , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/patologia , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Triglicerídeos/sangue
17.
Lipids Health Dis ; 19(1): 202, 2020 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-32891149

RESUMO

BACKGROUND: Apolipoprotein E (ApoE) and solute carrier organic anion transporter family member 1B1 (SLCO1B1) regulate lipid metabolism. However, the relationship between genetic polymorphisms of APOE and SLCO1B1 and cerebral infarction (CI) remains unclear. METHODS: A total of 938 CI patients and 1028 control participants were included in the study. The rs429358 and rs7412 single nucleotide polymorphisms (SNPs) in the APOE gene and rs2306283 and rs4149056 SNPs in the SLCO1B1 gene were analyzed by fluorescence polymerase chain reaction (PCR). RESULTS: The genotype ɛ3/ɛ3 was the most common APOE genotype, with ɛ3 being the allele with the highest frequency, followed by ɛ4 and ɛ2. Statistically significant differences of genotype ɛ2/ɛ2 (χ2 = 3.866, P = 0.049), ɛ2/ɛ3 (χ2 = 20.030, P < 0.001), ɛ3/ɛ4 (χ2 = 16.960, P < 0.001), and ɛ4/ɛ4 (χ2 = 4.786, P = 0.029) between CI patients and controls were detected. The SLCO1B1 genotype *1b/*1b and haplotype *1b showed the highest frequency in the study sample. There was no statistically significant difference in the frequencies of SLCO1B1 genotypes and haplotypes among CI patients comparing with controls. Moreover, ε4 carriers had significantly higher low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (Apo-B) and lower apolipoprotein A1 (Apo-A1)/Apo-B levels than ε2 and ε3 carriers, but ε2 carriers showed lower LDL-C and Apo-B and higher Apo-A1/Apo-B than ε3 and ε4 carriers. Further, logistic regression analysis revealed that high LDL-C, high ApoB, smoking, hypertension and the ε4 allele were risks for the presence of CI. CONCLUSIONS: This study indicated that the APOE SNPs rs429358 and rs7412 may be associated with susceptibility to cerebral infarction in southern Chinese Hakka population.


Assuntos
Apolipoproteínas E/genética , Infarto Cerebral/genética , Predisposição Genética para Doença , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Polimorfismo de Nucleotídeo Único , Idoso , Alelos , Apolipoproteína A-I/sangue , Apolipoproteína A-I/genética , Apolipoproteína B-100/sangue , Apolipoproteína B-100/genética , Apolipoproteínas E/sangue , Estudos de Casos e Controles , Infarto Cerebral/sangue , Infarto Cerebral/etnologia , Infarto Cerebral/patologia , China , HDL-Colesterol/sangue , LDL-Colesterol/sangue , Etnicidade , Feminino , Expressão Gênica , Frequência do Gene , Haplótipos , Humanos , Hipertensão/fisiopatologia , Transportador 1 de Ânion Orgânico Específico do Fígado/sangue , Masculino , Pessoa de Meia-Idade , Isoformas de Proteínas/sangue , Isoformas de Proteínas/genética , Fatores de Risco , Fumar/fisiopatologia , Triglicerídeos/sangue
18.
Gynecol Endocrinol ; 36(4): 322-326, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31452430

RESUMO

The aim of this study is to clarify the possible association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and pre-eclampsia in Hakka pregnant women in southern China. Pre-eclampsia and normal pregnant women were consecutively collected and MTHFR C677T genotypes were determined by the DNA sequencing method. One hundred and thirteen pre-eclampsia patients were CC homozygote (113 of 191, 59.2%), 68 of 191 (35.6%) were CT heterozygote, and 10 of 191 (5.2%) were TT homozygote, with the frequency of the T allele equal to 0.77. This is in comparison with the normal control group where 106 of 202 (52.5%) were CC homozygote, 83 of 202 (41.1%) were CT heterozygote, and 13 of 202 (6.4%) were TT homozygote, with the frequency of the T allele equal to 0.27. No statistically significant differences were observed in genotype or allele frequencies between the pre-eclampsia and normal control for the C677T polymorphism of MTHFR gene (p > .05). The findings of this study suggest that polymorphisms of MTHFR C677T genes were not associated with pre-eclampsia in Hakka pregnant women from southern China, but additional studies are necessary to explore the mechanisms involving it.


Assuntos
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pré-Eclâmpsia/etnologia , Pré-Eclâmpsia/genética , Adulto , Estudos de Casos e Controles , China/epidemiologia , Etnicidade/genética , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez , Fatores de Risco , Adulto Jovem
19.
J Clin Lab Anal ; 34(4): e23118, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31721313

RESUMO

BACKGROUND: The aim of this study was to investigate the infection and antimicrobial resistance of Ureaplasma urealyticum and Mycoplasma hominis in patients with genitourinary symptoms among Hakka population in Meizhou, China. METHODS: A total of 12 633 females and 3315 males who presented urogenital symptoms and were subjected to mycoplasma tests from 2014 to 2018 were enrolled in this study. The mycoplasma detection and antimicrobial susceptibility were tested using the Mycoplasma ID/AST kit. RESULTS: The total incidence of mycoplasma infection, as well as the incidence of U urealyticum in Hakka population was annually increasing from 2014 to 2018. The total incidences and U urealyticum infection were more prevalent in females than males. Higher positive rate of mycoplasmas infection was observed in women aged 16-20 (50.9%) and men aged 26-30 (25.4%). The occurrence of antimicrobial resistance of mycoplasma to antibacterial agents remained relatively similar in the past five years. Ureaplasma urealyticum infection, M hominis infection, and co-infection of resistance to levofloxacin, erythromycin, ciprofloxacin, ofloxacin, roxithromycin, azithromycin, clarithromycin, and sparfloxacin were dramatically higher in females than in males. CONCLUSION: Our findings indicate a high burden of mycoplasmas infection and antimicrobial resistance of mycoplasmas infection among females, and josamycin and minocycline may be recommended as the primary choice in clinical treatment of anti-mycoplasmas.


Assuntos
Infecções por Mycoplasma/epidemiologia , Mycoplasma hominis/efeitos dos fármacos , Infecções do Sistema Genital/epidemiologia , Infecções por Ureaplasma/epidemiologia , Ureaplasma urealyticum/efeitos dos fármacos , Adolescente , Adulto , Distribuição por Idade , Antibacterianos/farmacologia , China/epidemiologia , Farmacorresistência Bacteriana/efeitos dos fármacos , Feminino , Humanos , Incidência , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Infecções por Mycoplasma/microbiologia , Prevalência , Infecções do Sistema Genital/microbiologia , Adulto Jovem
20.
J Clin Lab Anal ; 34(1): e23020, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31489700

RESUMO

BACKGROUND: MicroRNAs play a vital role in coronary artery disease. Abnormal expression of microRNAs has been found to be associated with the occurrence of CAD. METHODS: We identified significantly differentially expressed microRNAs in plasma between 40 patients with CAD and 10 controls with NCA using RNA sequencing. The differentially expressed microRNAs were analyzed for Gene Ontology (GO) enrichment and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment. RESULTS: Fifty cDNA libraries were constructed and sequenced, and a total of 1871.82 M raw reads were obtained, and 2135 microRNAs were found. Compared to the expressed microRNAs of NCA controls, 159 microRNAs were differentially expressed in CAD patients, including 119 upregulated microRNAs and 40 downregulated microRNAs. The top 10 upregulated miRNAs were miR-144-3p, miR-34a-5p, miR-15b-3p, miR-22-3p, miR-29b-3p, miR-1270, miR-6891-5p, miR-106a-5p, miR-15b-5p, and hsa-miR-499b-3p. The top ten downregulated miRNAs were miR-4437, miR-6842-3p, miR-4664-3p, miR-671-3p, miR-219a-1-3p, miR-7848-3p, miR-664a-3p, miR-1284, miR-361-3p, and miR-6780a-5p. The target genes of differentially expressed microRNAs were related to many basic biological terms, such as biological process, cellular component, and molecular function. According to the KEGG pathway analysis, the most enriched pathways of the differentially expressed microRNAs were endocytosis, focal adhesion, axon guidance, and so on. Furthermore, six upregulated and two downregulated microRNAs were detected by qRT-PCR (Quantitative Real-time PCR) and ROC analysis for diagnosing CAD. CONCLUSION: The results suggest that the expression levels of some microRNAs may play a vital role in the physiological and pathological course of CAD. Our study may provide useful information for the diagnosis and treatment of CAD.


Assuntos
MicroRNA Circulante/genética , Biologia Computacional , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/genética , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Análise de Sequência de RNA , Estudos de Casos e Controles , Feminino , Ontologia Genética , Humanos , Masculino , Pessoa de Meia-Idade , Curva ROC , Reprodutibilidade dos Testes , Regulação para Cima/genética
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