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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 75-79, 2020 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-31922603

RESUMO

OBJECTIVE: To assess the association of JAG2 gene single nucleotide polymorphisms with the occurrence of nonsyndromic cleft lip with or without cleft palate (NSCLP) among northwest Chinese population. METHODS: A case-control study was carried out on 301 NSCLP patients and 304 healthy controls. An iMLDR(TM) genotyping technique was used to detect three single nucleotide polymorphisms (SNPs) [rs741859 (T/C), rs11621316 (A/G) and rs1057744(C/T)] of the JAG2 gene. Allelic and genotypic frequencies and haplotypic distribution among the two groups were compared. RESULTS: A significant difference was found in the frequency of C and T alleles for rs741859 between the two groups. The CT genotype of rs741859 could significantly reduce the risk for NSCLP to 65% (P< 0.05) and the risk for cleft lip with or without cleft palate (CL/P) to 62% (P< 0.05). rs11621316 and rs1057744 are in the same linkage disequilibrium (LD) region with a high degree of linkage (γ 2> 0.8), whose distribution difference between the two groups was not statistically significant (P> 0.05). CONCLUSION: The CT genotype of the JAG2 gene rs741859 may confer a protective effect for NSCLP among northwest Chinese population.


Assuntos
Fenda Labial , Fissura Palatina , Proteína Jagged-2 , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , China , Fenda Labial/genética , Fissura Palatina/genética , Frequência do Gene , Genótipo , Humanos , Proteína Jagged-2/genética
2.
Gene ; 725: 144163, 2020 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-31639433

RESUMO

BACKGROUND: Previous studies have established that coronary artery disease is associated with excess inflammation. These studies have shown an elevation of both pro and anti-inflammatory cytokines in sufferers of coronary artery disease. There is increasing interest in the role played by the inflammasome Nod Like Receptor family pyrin domain containing 3 (NLRP3) in the aetiology of coronary artery disease. Increased severity of coronary artery disease correlates with higher levels of expression of NLRP3. Does NLRP3 polymorphisms play a role in the aetiology of coronary artery disease? METHOD: In a cohort of Vietnam War (n-299) veterans who have been previously exposed to trauma, NLRP3 polymorphisms were analysed for association with coronary calcium scores using analyses of variance. Independent t-test was used to analyse genotypes. In samples with a small representation of minor homozygotes, genotypes were combined and analysed using independent t-test. If any of the genotype analysis suggested the potential for a dominant or a recessive model the model was further explored. Hardy-Weinberg Equilibrium was calculated using Hardy-Weinberg equilibrium calculator including analysis for ascertainment bias. RESULTS: The NLRP3 polymorphism, rs10159239 was significantly associated (p = 0.001) with a higher raised coronary calcium score. The Single Nucleotide Polymorphism rs10159239 was examined by logistic regression with known risk factors for Coronary artery disease and remained significant (0.035). This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. CONCLUSIONS: This is the first time rs10159239 A-allele has been associated with raised coronary calcium score. Further research is needed to replicate our results in larger well-characterised cohorts.


Assuntos
Doença da Artéria Coronariana/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Idoso , Idoso de 80 Anos ou mais , Alelos , Proteínas de Transporte/genética , Estudos de Coortes , Doença da Artéria Coronariana/metabolismo , Citocinas/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Inflamação/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Fatores de Risco , Veteranos , Guerra do Vietnã
3.
Zhonghua Nei Ke Za Zhi ; 59(1): 23-28, 2020 Jan 01.
Artigo em Chinês | MEDLINE | ID: mdl-31887832

RESUMO

Objective: To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT). Methods: Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3'untranslated region (3'UTR) of GNA11 gene, respectively. Results: Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)]. Conclusion: The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.


Assuntos
Subunidades alfa de Proteínas de Ligação ao GTP/genética , Predisposição Genética para Doença , Hipoparatireoidismo/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , China , Subunidades alfa de Proteínas de Ligação ao GTP/metabolismo , Frequência do Gene , Genótipo , Humanos , Hipoparatireoidismo/diagnóstico , Polimorfismo de Nucleotídeo Único
4.
Medicine (Baltimore) ; 98(50): e18215, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852079

RESUMO

BACKGROUND: The influence of genetic polymorphisms on the development of gestational hypertension (GH) is unclear. The aim of this study was to examine whether single-nucleotide polymorphisms (SNPs) of the nuclear receptor subfamily 3, group C, member 2 (NR3C2) genes, rs5522, rs2070951, rs5534, s2248038, and s9992256 are associated with GH in Han Chinese women. METHOD: Sanger sequencing was used to analyze the genotypes of rs5522, rs2070951, rs5534, rs2248038, and rs9992256 loci of the NR3C2 gene in 450 patients with GH and 450 healthy controls. RESULTS: The rs5522 dominant model (odds ratio [OR] = 1.30, 95% confidence interval [CI]: 1.13-1.47, P < .001) and the recessive model (OR = 1.64, 95% CI: 1.33-1.86, P < .001) had higher GH risk. The rs2070951 dominant model (OR = 1.18, 95% CI: 1.03-1.35, P = .02) had higher risk of GH, and the recessive model (OR = 1.09, 95% CI: 0.84-1.34, P = .55) was not significant for GH risk. The rs5534 dominant model (OR = 1.25, 95% CI: 1.09-1.43, P = .001) had a higher GH risk. The rs2248038 and rs9992256 sites were not significantly related to GH risk. Gene-gene interactions at the rs5522, rs2070951, and rs5534 loci affected GH risk (OR = 1.34, 95% CI: 1.12-1.64, P < .001). CONCLUSION: The SNPs of the NR3C2 gene rs5522, rs2070951, and rs5534 are associated with GH in Han Chinese women.


Assuntos
DNA/genética , Grupos Étnicos , Predisposição Genética para Doença , Hipertensão Induzida pela Gravidez/genética , Polimorfismo de Nucleotídeo Único , Receptores de Mineralocorticoides/genética , Adulto , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Hipertensão Induzida pela Gravidez/etnologia , Hipertensão Induzida pela Gravidez/metabolismo , Incidência , Gravidez , Receptores de Mineralocorticoides/metabolismo , Estudos Retrospectivos , Adulto Jovem
5.
Chin J Physiol ; 62(5): 196-202, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31670283

RESUMO

The present study aimed to determine the association of adrenergic receptor beta-3 (ADRB3) rs4994 T>C and liver X receptor alpha (LXR-α) rs12221497 G>A polymorphism with metabolic syndrome (Met S) and the related traits in Pakistanis. Patients of Met S were recruited from the Endocrinology and Diabetic Clinic of Sheikh Zayed Hospital Lahore, over the time span of 6 months from July to December 2016. Single-nucleotide polymorphism (SNP) of ADRB3 was determined by restriction fragment length polymorphism and of LXR-α by amplification refractory mutation system polymerase chain reaction. The frequency of TT variant of ADRB3 T>C in Met S was 69 (34.5%) and in controls 89 (44.5%), frequency of TC 103 (51.5%) and 96 (48%), and of CC 28 (14%) and 15 (7.5%), respectively. In the recessive model (CC: TT + TC), CC genotype was found to be associated with the increased risk of Met S (P = 0.027; odds ratio [OR] = 2.09; confidence interval [CI] =1.08-4.03) and the association remained significant after controlling for the confounders such as age and sex. The frequency of GG variant of LXR-α G>A in Met S was 35 (17.5%) and in controls 15 (7.5%), GA 129 (64.5%) and 137 (68.5%), and AA 36 (18%) and 48 (24%), respectively. In the recessive model (GG: GA + AA), GG genotype was found to be associated with the increased risk of Met S (P = 0.004; OR = 2.52; CI = 1.33-4.80) and the association remained significant after controlling for the confounders such as age and sex. It was concluded that SNP of ADRB3 (190 T>C) and LXR-α (-115 G>A) were associated with the risk of Met S and might increase the susceptibility to the obesity-related traits.


Assuntos
Receptores X do Fígado/genética , Síndrome Metabólica , Receptores Adrenérgicos beta 3/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome Metabólica/genética , Paquistão , Polimorfismo de Nucleotídeo Único
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1073-1076, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703128

RESUMO

OBJECTIVE: To assess the association of single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) with refractory epilepsy in children. METHODS: Peripheral blood samples were collected from 200 children with epilepsy and 100 healthy controls. Genomic DNA was extracted and subjected to PCR amplification, agarose gel electrophoresis and target site sequencing. Genotypes of rs1922242, rs2235048, rs10808072, rs868755 and rs1202184 loci of the MDR1 gene were analyzed. RESULTS: No significant difference was found in genotypic distribution and allelic frequencies of the rs1922242, rs2235048, rs10808072 and rs868755 loci between the drug-resistant and drug-sensitive groups. For the rs1202184 locus, a significant difference in genotypic distribution was found (P=0.008). No significant difference was found in the frequencies of various haplotypes between the two groups. CONCLUSION: Genotypes of the rs1202184 locus of the MDR1 gene are associated with refractory epilepsy in children, for which the AA genotype plays a dominant role.


Assuntos
Epilepsia Resistente a Medicamentos/genética , Polimorfismo de Nucleotídeo Único , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Estudos de Casos e Controles , Criança , Frequência do Gene , Genótipo , Haplótipos , Humanos
7.
Georgian Med News ; (294): 37-41, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31687946

RESUMO

Premenstrual syndrome (PMS) is a common problem of women in reproductive age. Genetic aspects of this pathology are not completely clear. The aim of the article is devoted to the study of the frequency of ID polymorphism of angiotensin-converting enzyme gene ACE in patients with premenstrual syndrome. The object of the study were 50 women in reproductive age with the diagnosis of PMS, 25 of them had mild form of the disease, 25 - severe one. 25 persons without PMS were controls. Polymerase chain reaction was used to study ACE gene polymorphism. We determined an equal distribution of ACE gene genotypes between women with PMS and without this pathology (DD genotype was established in 24% of controls and 30% women with PMS, ID genotype - 60% and 46% respectively, II genotype - 16% and 24%). However, DD genotype was found in 2.17 times more often in patients with severe form of the disease (52%) compared to healthy persons. Thus, women with DD genotype of ACE gene have the tendency to the development of severe PMS (χ2=3.06, p=0.08; OR=3.43, 95% CI 1.02-11.47, p=0.045).


Assuntos
Predisposição Genética para Doença , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Síndrome Pré-Menstrual/genética , Adulto , Estudos de Casos e Controles , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Peptidil Dipeptidase A/metabolismo , Reação em Cadeia da Polimerase , Síndrome Pré-Menstrual/fisiopatologia
8.
Wei Sheng Yan Jiu ; 48(4): 577-582, 2019 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-31601338

RESUMO

OBJECTIVE: To investigate the correlation between the polymorphisms of(brain derived neurotrophic factor, BDNF)BDNF gene rs11030104 and rs2030324 and executive function in children with attention deficit hyperactivity disorder(ADHD). METHODS: A total of 206 ADHD children and 212 control children were enrolled in the study. Five mL peripheral venous blood was extracted from each subject and genomic DNA was extracted. The genotypes of rs11030104 and rs2030324 loci were genotyped by PCR/sequencing. The selection was tested by Wisconsin Classification Card Test, Stroop Color-Word Task, Reaction/Nonresponse Task and Stop Signal Task. RESULTS: The distribution of rs2030324 locus gene frequency was different between ADHD group and control group. G allele was the risk factor of ADHD(χ~2=4. 481, P=0. 034; OR=1. 520, 95%CI 1. 031-2. 243); rs11030101 locus gene frequency distribution and genotype distribution had statistical significance between the two groups, and A allele was related to ADHD susceptibility(OR=1. 601, 95%CI 1. 052-2. 436). The error interference score of Stroop test in ADHD group was higher than that in control group(P<0. 05), but there was no significant difference in response time interference score between the two groups(P>0. 05). The SCWT scores of different genotypes of BDNF rs2030324 in ADHD group were different. Compared with AA type and AG type, the SCWT error interference scores of GG type ADHD patients were higher. There was no significant difference among rs11030101 genotypes. The WCST scores of ADHD group were lower than those of control group. The variation of Go/no-go scores in ADHD group was higher than that of control group in missed count, mistaken count and correct reaction time. The variation of SST and correct reaction time in ADHD group were higher than that of control group, but the genotype distribution of rs11030104 and rs2030324 loci had no significant correlation with WCST, Go/no-go and SST scores. CONCLUSION: Children with ADHD have executive dysfunction. ADHD children with BDNF rs2030324 GG genotype showed poor Stroop executive function.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Fator Neurotrófico Derivado do Encéfalo/genética , Criança , Função Executiva , Frequência do Gene , Humanos , Polimorfismo de Nucleotídeo Único
9.
Wei Sheng Yan Jiu ; 48(4): 621-627, 2019 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-31601346

RESUMO

OBJECTIVE: To investigate the effect of the interaction between methylenetetrahydrofolate reductase(MTHFR) genotype and allele and long-term exposure to organophosphorus pesticides on the development of type 2 diabetes mellitus(T2 DM). METHODS: A total of 209 cases of T2 DM(case group) and 216 cases without T2 DM(control group) were selected as subjects. The polymorphism of MTHFR(rs1801133) was detected by TaqMan probe technique. The relationship between genes, long-term exposure to organophosphorus pesticides and T2 DM was analyzed by Logistic regression. The interaction between gene and long-term exposure to organophosphorus pesticides was discussed by crossover analysis and generalized multifactor dimensionality reduction. RESULTS: BMI⇿4, residence in countryside, long-term exposure to organophosphorus pesticides and family history of diabetes mellitus were risk factors for T2 DM. MTHFR genotype distribution conformed to Hardy-Weinberg equilibrium(P>0. 05). There was no significant difference in genotype distribution frequency between case group and control group. The risk of T2 DM in individuals with CT and TT genotypes was 1. 667 times higher than that of CC genotypes after adjusting the covariates at rs1801133 locus in the dominant model(95%CI 1. 057-2. 627, P=0. 028). It suggested that the samples of allele T had a increased risk of T2 DM compared with those without allele T. The above models still had statistical significance(P<0. 05) after adjusting the covariates. Forth, crossover analysis showed that the gene MTHFR(rs1801133) and long-term exposure to organophosphorus pesticides had multiplication interaction. The interaction between gene MTHFR(rs1801133) and long-term exposure to organophosphorus pesticides may play a role in the pathogenesis of T2 DM. Generalized multifactor dimensionality reduction(GMDR)analysis showed that the interaction model of MTHFR(rs1801133) gene and family history of diabetes mellitus was the best model. CONCLUSION: MTHFR(rs1801133) gene CT and TT genotype may be risk factors for T2 DM. The interaction between genetic polymorphism and environmental factors increases the risk of T2 DM.


Assuntos
Diabetes Mellitus Tipo 2/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Compostos Organofosforados/toxicidade , Praguicidas/toxicidade , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único
10.
Anticancer Res ; 39(10): 5375-5380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570432

RESUMO

BACKGROUND/AIM: Matrix metalloproteinases-11 (MMP-11) overexpression has been reported in various types of cancer including lung cancer. We aimed to examine the contribution of MMP-11 genotypes to lung cancer risk. MATERIALS AND METHODS: In this case-control study, the MMP-11 rs738791, rs2267029, rs738792 and rs28382575 genotypes were determined among 358 lung cancer patients and 716 age- and gender-matched healthy control Taiwanese. RESULTS: The percentages of rs738791 CT and TT were 50.6% and 9.2% in the case group, slightly higher than 48.5% and 8.1% in the control group (p for trend=0.5638). The allelic analysis showed that the rs738791 T allele did not confer lung cancer risk compared with the C allele. Similarly, there was no association between rs2267029, rs738792 or rs28382575 and lung cancer risk. There was no joint effect of MMP-11 genotypes among ever smokers or non-smokers. CONCLUSION: The genotypes of MMP-11 play a minor role in determining lung cancer risk in Taiwan.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Pulmonares/genética , Metaloproteinase 11 da Matriz/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Taiwan
11.
Anticancer Res ; 39(10): 5525-5530, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570446

RESUMO

BACKGROUND/AIM: Basal cell carcinoma (BCC) has been genetically associated with an increased expression of angiotensin-converting enzyme (ACE), an important factor of the renin-angiotensin system which produces vasoconstrictor angiotensin II. Other factors of this system include angiotensinogen (AGT) and angiotensin receptors AGTR1, AGTR2. We investigated the possible association of BCC with genetic variability in the AGT, AGTR1 and AGTR2 genes. MATERIALS AND METHODS: DNA samples of 190 Greeks were studied, including 91 patients with BCC and 99 matched healthy controls. Molecular genotyping of patients and controls was performed for the polymorphisms AGT M235T, AGTR1 A1166C and AGTR2 G1675A. RESULTS: The mutant T allele that increases AGT gene expression was detected in two-fold increased frequency in BCC patients in comparison to healthy controls (p <0.001). On the contrary, no significant difference was observed in AGTR1 and AGTR2 variants between patients and controls. CONCLUSION: Increased expression of AGT may be associated with BCC.


Assuntos
Carcinoma Basocelular/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Angiotensinogênio/genética , Estudos de Casos e Controles , Linhagem Celular Tumoral , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Receptor Tipo 1 de Angiotensina/genética , Receptor Tipo 2 de Angiotensina/genética
12.
Brain Nerve ; 71(10): 1071-1079, 2019 Oct.
Artigo em Japonês | MEDLINE | ID: mdl-31588051

RESUMO

Next generation sequencing (NGS) technology has dramatically influenced the field of omics studies, such as genomics and transcriptomics. It is now possible to access a significant number of previously known and novel genomic variants through NGS. Although the effective manipulation and accurate interpretation of the inordinate amount of data may pose a considerable challenge, it enables us to identify specific genes responsible for causing or influencing the susceptibility to a plethora of diseases. Alzheimer's disease (AD) is the most common etiology of dementia in the elderly (approximately 60-70%). The current research trend of AD genetics focuses on the analysis of rare variants (allelic frequency <1%) instead of common variants (allelic frequency >1%) to identify AD-associated genes/variants. A number of genes (such as TREM2, ABCA7, SORL1) that carry rare pathogenic variants have reportedly conferred susceptibility to AD with stronger genetic risk effects (odds ratio >2.0). Here, we are going to introduce a small part of the latest many attractive findings about AD genetic researches.


Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Transportadores de Cassetes de Ligação de ATP/genética , Alelos , Frequência do Gene , Testes Genéticos , Genômica , Humanos , Proteínas Relacionadas a Receptor de LDL/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras/genética , Receptores Imunológicos/genética
13.
Medicine (Baltimore) ; 98(40): e17313, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577725

RESUMO

To investigate the impact of carriage of single nucleotide polymorphisms (SNPs) of the Toll-like receptor-4 (TLR4) and of autophagy-related gene 16-like-1 (ATG16L1) in preterm delivery (PTD).A prospective cohort of 145 pregnant women was studied. Women were prospectively followed-up until delivery. Genotyping for rs4986790 (Asp299Gly transition) and rs4986791 (Thr399Ile transition) of TLR4 and for rs2241880 of ATG16L1 was done by PCR-restriction fragment length polymorphism. The primary study endpoint was the impact of carriage of minor alleles of TLR4 on early PTD before gestational week 32. Associations with human chorionic gonadotrophin (hCG) were also analyzed. Peripheral blood mononuclear cells were isolated from 15 healthy women and stimulated for cytokine production.No difference in clinical characteristics was observed between women delivering full term and preterm. The frequency of early PTD was 25% among women carrying minor alleles of TLR4 and 6.8% among women carrying major alleles (P: .032). Odds ratios for PTD were 3.85 among women carrying the GG genotype of rs2241880 and major alleles of TLR4 and 0.26 among carriers of GG genotype and minor alleles of TLR4 (P: .030). The co-presence of GG genotype of rs2241880 and hCG above 70 U/L was an independent variable for PTD. Stimulated production of interleukin-6 was greater among women with GG genotypes of rs2241880.Minor alleles of SNPs of TLR4 predispose to early PTD. The GG genotype of rs2241880 of ATG16L1 is associated with PTD when hCG is supra-elevated.


Assuntos
Proteínas Relacionadas à Autofagia/genética , Nascimento Prematuro/genética , Receptor 4 Toll-Like/genética , Adulto , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Autofagia/fisiologia , Gonadotropina Coriônica/sangue , Citocinas/biossíntese , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Idade Gestacional , Humanos , Polimorfismo de Nucleotídeo Único , Gravidez , Estudos Prospectivos
14.
Medicine (Baltimore) ; 98(43): e17258, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651836

RESUMO

Increasing studies demonstrated that genetic susceptibility attributes to the development of gestational diabetes mellitus (GDM). The polymorphisms of the ß-3 adrenergic receptor(ß-3AR) gene have been found to be of great importance in bodyweight elevation and dyslipidaemias. We aimed to determine the influence of ß-3AR polymorphisms on the GDM risk. Thus, we performed a case-control study including 136 GDM cases and 138 controls to evaluate the relation between the rs201607471 and susceptibility to GDM. Likelihood ratios X analysis showed the distribution of the genotype frequency (rs201607471 in ß-3AR gene) was accorded with the Hardy-Weinberg genetic equilibrium. Although no significant association between rs201607471 alleles and GDM susceptibility (Chi-square test, P > .05), we observed that ß-3AR gene rs201607471 CT genotype was significantly prevalent in GDM (Chi-square test, P < .05). Moreover, we observed that ß-3AR gene rs201607471 C > T was significantly associated with an increased risk of GDM using the recessive model (CC vs CT/TT: P = .026) and the additive model (CC vs CT vs TT: P = .038). These data indicate that ß-3AR rs201607471 may be a helpful susceptibility marker for GDM in Chinese pregnant women.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Diabetes Gestacional/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores Adrenérgicos beta 3/genética , Adulto , Alelos , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , China , Feminino , Frequência do Gene , Genótipo , Humanos , Gravidez , Estudos Retrospectivos , Fatores de Risco
15.
Medicine (Baltimore) ; 98(43): e17482, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31651850

RESUMO

The aim of this study was to investigate the correlation between cluster of differentiation 86 (CD86) gene rs1129055 and rs2715267 single nucleotide polymorphisms and sepsis susceptibility.One hundred twenty-five sepsis patients and 120 healthy controls were enrolled in this case-control study. CD86 polymorphisms rs1129055 and rs2715267 were genotyped through polymerase chain reaction-restriction fragment length polymorphism approach. Chi-square test was used to analyze differences in genotype and allele frequencies of the 2 polymorphisms between case and control groups. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to present the association strength of the polymorphisms with sepsis susceptibility.AA genotype and A allele frequencies of CD86 rs1129055 were significantly lower in sepsis patients than in healthy controls (P < .05), revealing their significant associations with decreased disease susceptibility (OR = 0.351, 95% CI = 0.169-0.728; OR = 0.593, 95% CI = 0.415-0.847). Nevertheless, rs2715267 had no significant association with sepsis susceptibility (P > .05).AA genotype and A allele of CD86 polymorphism rs1129055 might be correlated with decreased sepsis susceptibility in Chinese Han population, but not rs2715267. Further study should be performed to verify our findings.


Assuntos
Antígenos CD/sangue , Antígeno B7-2/sangue , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Sepse/genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Feminino , Frequência do Gene , Predisposição Genética para Doença/etnologia , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Adulto Jovem
16.
Braz J Med Biol Res ; 52(11): e8549, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31664304

RESUMO

The published data on the association between MCP-1 -2518A>G polymorphism and asthma susceptibility are inconclusive. Therefore, we performed a meta-analysis to estimate the impact of MCP-1 -2518A>G polymorphism on asthma susceptibility. PubMed, Web of Science, Wanfang, and China National Knowledge Infrastructure (CNKI) databases were used to identify eligible studies. The pooled odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to calculate the strength of association. Sensitivity analysis was performed to evaluate the influence of individual studies on the estimates of overall effect, and funnel plots and Egger's test were used to assess publication bias. Eight publications with 1562 asthma patients and 1574 controls were finally identified. Overall, we found no significant association between MCP-1 -2518A>G polymorphism and asthma susceptibility in any of the genetic model comparisons. After stratified analysis by ethnicity, the results showed that a significant association with asthma risk was found in Caucasians in all the genetic models. However, a protective association was found in Africans under the dominant model. The present meta-analysis suggested that the MCP-1 -2518 A>G polymorphism is a risk factor for asthma in the Caucasian population, nevertheless it has a protective effect in the African population.


Assuntos
Asma/genética , Quimiocina CCL2/genética , Estudos de Associação Genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Grupo com Ancestrais do Continente Africano/genética , Grupo com Ancestrais do Continente Europeu/genética , Frequência do Gene/genética , Humanos , Fatores de Proteção , Fatores de Risco
17.
An Bras Dermatol ; 94(4): 429-433, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31644615

RESUMO

BACKGROUND: Behçet disease is a prototypical systemic autoimmune disease, caused by a complex interplay between environmental and genetic factors. The transmembrane immunoglobulin and mucin domain-3 (TIM-3) is a distinct member of the TIM family that is preferentially expressed on Th1 cells and plays a role in Th1-mediated autoimmune or inflammatory diseases, such as Behçet disease. OBJECTIVE: The aim of this study was to test the potential association between TIM-3 gene polymorphisms and Behçet disease. METHODS: Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behçet disease and 200 healthy controls. Typing of the polymorphisms was performed using multiplex PCR amplification. RESULTS: There were no significant differences in allele and genotype frequencies between the Behçet disease patients and controls who were successfully genotyped. Similar results were also found after stratification by gender, age, or clinical features. STUDY LIMITATIONS: Lack of studies on various racial or ethnic groups and small sample size. CONCLUSION: This study failed to demonstrate any association between the tested TIM-3 polymorphisms and Behçet disease.


Assuntos
Síndrome de Behçet/genética , Receptor Celular 2 do Vírus da Hepatite A/genética , Polimorfismo de Nucleotídeo Único , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Irã (Geográfico) , Modelos Logísticos , Masculino , Reação em Cadeia da Polimerase Multiplex , Medição de Risco , Fatores de Risco
18.
DNA Cell Biol ; 38(11): 1249-1256, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31553233

RESUMO

Transmembrane protein 39A (TMEM39A) gene polymorphisms have been related to various autoimmune diseases, but the relationship between TMEM39A polymorphisms and autoimmune thyroid disease (AITD) remains unknown. This study was aimed at investigating whether the polymorphisms of the TMEM39A were associated with AITD in the Chinese Han population. A case-control study was performed in a total of 906 AITD patients and 744 healthy controls. Four single nucleotide polymorphisms, including rs1132200, rs12492609, rs2282175, and rs7629750, in TMEM39A were examined by polymerase chain reaction-ligase detection reaction. We found that the allele T of rs12492609 in TMEM39A was associated with AITD and Hashimoto's thyroiditis (HT) (p = 0.023; p = 0.028 respectively). Compared with controls, the frequency of haplotype CCA in AITD patients was higher than that in controls (p = 0.036), but the frequency of haplotype CTA in AITD and HT patients was lower than that in controls (p = 0.046; p = 0.047 respectively). In addition, the frequency of allele A at rs7629750 in AITD patients with onset age ≤18 years old was higher than that in AITD patients with onset age ≥19 (p = 0.046). Further, there was an obvious difference in the genotype distributions of rs12492609 and rs7629750 between HT patients with hypothyroidism and those without hypothyroidism (p = 0.034 and p = 0.023, respectively). Our study first reveals that the polymorphisms of the TMEM39A gene are associated with the susceptibility to AITD, especially for early-onset AITD and HT with hypothyroidism.


Assuntos
Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Tireoidite Autoimune/genética , Adolescente , Adulto , Idade de Início , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Doença de Hashimoto/epidemiologia , Doença de Hashimoto/genética , Humanos , Hipotireoidismo/epidemiologia , Hipotireoidismo/genética , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Tireoidite Autoimune/epidemiologia , Adulto Jovem
19.
J Assoc Physicians India ; 67(7): 43-48, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31559768

RESUMO

Aim: To delineate the genetic differences in polymorphism of the APOE and D2S439 marker genes for patients with and without rheumatoid arthritis and to study the distribution frequency of the prevalent alleles of these genes in clinically defined sub groups of patients/controls of Indian origin, specifically and their correlation with severity of disease using DAS score. Material and Methods: This is a case control study where peripheral blood samples 160 cases and 150 controls were collected. Results: We evaluated the association of the tetra nucleotide repeat microsatellite marker D2S439 lying at 231.27cM position on the q arm of chromosome-2. The alleles of this marker ranged in size from 163bp-203bp in PCR product length corresponding to 5-15 (CTAT)n tetra repeats. The allele frequencies for this marker in the North Indian population are different from the CEPH populations. The longer alleles, >199bp (=14 or 15 CTAT repeats) were not observed. The genotypes after bimodal distribution differ significantly among cases and controls (p=0.003). Statistically significant difference was seen between cases and controls for ≥(CTAT) 10 longer allele which was more prevalent in the adult RA cases than in controls. Severity of RA was defined by a DAS28 score of >6 on a scale of ten. No significant association was seen with the APOE polymorphism and disease severity. Conclusion: The long allele of D2S439 marker representing an expansion of the CTAT, tetranucleotide repeat doubles an individual's the risk for developing RA.


Assuntos
Apolipoproteínas E/genética , Artrite Reumatoide , Repetições de Microssatélites , Adulto , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença
20.
Eur J Endocrinol ; 181(5): K37-K41, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31491746

RESUMO

Objective: To screen for CLCN2 mutations in apparently sporadic cases of aldosterone-producing adenomas (APAs). Description: Recently, CLCN2, encoding for the voltage-gated chloride channel protein 2 (ClC-2), was identified to be mutated in familial hyperaldosteronism II (FH II). So far, somatic mutations in CLCN2 have not been reported in sporadic cases of APAs. We screened 80 apparently sporadic APAs for mutations in CLCN2. One somatic mutation was identified at p.Gly24Asp in CLCN2. The male patient had a small adenoma in size but high aldosterone levels preoperatively. Postoperatively, the patient had normal aldosterone levels and was clinically cured. Conclusion: In this study, we identified a CLCN2 mutation in a sporadic APA comprising about 1% of all APAs investigated. This mutation was complementary to mutations in other susceptibility genes for sporadic APAs and may thus be a driving mutation in APA formation.


Assuntos
Adenoma/genética , Adenoma/metabolismo , Aldosterona/metabolismo , Canais de Cloreto/genética , Mutação/genética , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/metabolismo , Adenoma/cirurgia , Adulto , Frequência do Gene , Humanos , Masculino , Noruega/epidemiologia , Neoplasias Hipofisárias/cirurgia , Transcriptoma/genética
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