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1.
Biochemistry (Mosc) ; 84(9): 1040-1046, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31693463

RESUMO

Preterm birth is not only medical, but also a social problem. The global goal of medicine is prevention of preterm labor and identification of risk factors leading to preterm birth. The objective of our study was to find the association between polymorphic markers in the cytokine IL-1ß, TNF-α, IL-1Ra, and IL-4 genes and development of preterm labor. The prospective study was conducted in 108 pregnant women with the risk of preterm birth. The main group consisted of 66 women whose pregnancy ended with preterm delivery despite the ongoing therapy. The comparison group included 42 women with the full-term delivery. The dominant T allele of the cytokine IL-1ß gene polymorphism rs1143634 (3953C→T) was 7.6 times more common in women with preterm delivery vs. the comparison group (36.4 and 4.8%, respectively; RR, 1.802; 95% CI, 1.420-2.288; p < 0.05); its homozygous form was detected only in women with preterm delivery at the very early gestation age (less than 26 weeks). The dominant proinflammatory allele 2R of the IL-1 receptor antagonist gene (IL-1Ra) was 1.5 times more common in women with preterm delivery than in the comparison group (63.6 and 42.8%, respectively; RR, 1.400; 95% CI, 1.009-1.943; p < 0.05), which makes the 2R allele the risk factor for preterm birth. The 2R/2R and 2R/4R genotypes led to a very early and early preterm delivery, respectively. The combination of three or four proinflammatory genotypes was detected only in women with a very early preterm delivery, which confirms that the combination of several proinflammatory genotypes is an extremely unfavorable factor for the full-term pregnancy. Identification of genetic polymorphisms in the interleukin genes at the periconceptional stage will help to prevent the risk of preterm delivery, which will reduce the incidence of preterm births, as well as perinatal morbidity and mortality.


Assuntos
Proteína Antagonista do Receptor de Interleucina 1/genética , Interleucina-1beta/genética , Interleucina-4/genética , Polimorfismo Genético/genética , Nascimento Prematuro/genética , Fatores de Necrose Tumoral/genética , Alelos , Feminino , Humanos , Gravidez , Estudos Prospectivos , Fatores de Risco
2.
Niger J Clin Pract ; 22(10): 1319-1323, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31607718

RESUMO

Background: Morphine is a common analgesic often used to manage chronic pain, especially for patients with pain due to malignancies. Since UGT2B7 plays an important role in the metabolism of morphine, UGT2B7 gene mutation may influence the efficacy of morphine in patients with cancer being treated by this medication. Aims: The aim of this study is to investigate the relationship between the polymorphisms of UGT2B7 and the efficacy of morphine treatment on cancer pain among the Chinese Han population. Materials and Methods: A total of 120 patients with cancer pain were enrolled in this study. Morphine was administrated through patient-controlled analgesia infusion pump, and the visual analog score (VAS) was used for pain assessment at 0.5, 4, 6, 12, 24, 48, and 72-h post morphine treatment, respectively. The plasma concentration of morphine and genetic polymorphism of UGT2B7 C802T and G221T was analyzed, respectively. Results: The frequencies of UGT2B7 C802T were CC: 13.33%, CT: 45% and TT: 41.67%, and the frequencies of UGT2B7 G221T were GG: 76.67%, GT: 22.5% and TT: 0.83%. Moreover, the VAS score of patients with either C802T CT or TT was significantly higher than that in patients with C802T CC. However, no difference of VAS scores was observed between patients carrying G221T GG and patients carrying G221T GT. The plasma concentration of morphine for patients with the C802T CC was significantly lower than that in patients carrying C802T CT or TT, while there was no significant difference in the level of morphine between patients with G221T GG and G221T GT. Conclusion: The polymorphism of UGT2B7 C802T, but not UGT2B7 G221T, has been associated with the efficacy of morphine treatment on cancer pain among Chinese Han population.


Assuntos
Analgésicos Opioides/sangue , Grupo com Ancestrais do Continente Asiático/estatística & dados numéricos , Dor do Câncer/tratamento farmacológico , Glucuronosiltransferase/genética , Morfina/sangue , Neoplasias/sangue , Polimorfismo Genético/genética , Adulto , Analgesia Controlada pelo Paciente , Analgésicos Opioides/administração & dosagem , Analgésicos Opioides/uso terapêutico , Grupo com Ancestrais do Continente Asiático/genética , Dor do Câncer/genética , Feminino , Genótipo , Humanos , Bombas de Infusão , Masculino , Pessoa de Meia-Idade , Morfina/administração & dosagem , Morfina/uso terapêutico , Neoplasias/complicações , Neoplasias/tratamento farmacológico , Neoplasias/genética , Medição da Dor , Escala Visual Analógica
3.
Arq Bras Cir Dig ; 32(3): e1448, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31644668

RESUMO

INTRODUCTION: Many published studies have estimated the association of rs2435357 and rs1800858 polymorphisms in the proto-oncogene rearranged during transfection (RET) gene with Hirschsprung disease (HSCR) risk. However, the results remain inconsistent and controversial. AIM: To perform a meta-analysis get a more accurate estimation of the association of rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene with HSCR risk. METHODS: The eligible literatures were searched by PubMed, Google Scholar, EMBASE, and Chinese National Knowledge Infrastructure (CNKI) up to June 30, 2018. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the susceptibility to HSCR. RESULTS: A total of 20 studies, including ten (1,136 cases 2,420 controls) for rs2435357 and ten (917 cases 1,159 controls) for rs1800858 were included. The overall results indicated that the rs2435357 (allele model: OR=0.230, 95% CI 0.178-0.298, p=0.001; homozygote model: OR=0.079, 95% CI 0.048-0.130, p=0.001; heterozygote model: OR=0.149, 95% CI 0.048-0.130, p=0.001; dominant model: OR=0.132, 95% CI 0.098-0.179, p=0.001; and recessive model: OR=0.239, 95% CI 0.161-0.353, p=0.001) and rs1800858 (allele model: OR=5.594, 95% CI 3.653-8.877, p=0.001; homozygote model: OR=8.453, 95% CI 3.783-18.890, p=0.001; dominant model: OR=3.469, 95% CI 1.881-6.396, p=0.001; and recessive model: OR=6.120, 95% CI 3.608-10.381, p=0.001) polymorphisms were associated with the increased risk of HSCR in overall. CONCLUSIONS: The results suggest that the rs2435357 and rs1800858 polymorphisms in the RET proto-oncogene might be associated with HSCR risk.


Assuntos
Doença de Hirschsprung/genética , Polimorfismo Genético/genética , Predisposição Genética para Doença , Doença de Hirschsprung/etnologia , Humanos , Proteínas Proto-Oncogênicas c-ret/genética , Sensibilidade e Especificidade
4.
Arq Bras Cir Dig ; 32(3): e1449, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31644669

RESUMO

INTRODUCTION: The matrix metalloproteinase-7 (MMP-7) gene -181A>G polymorphism has been reported to be associated with colorectal cancer (CRC) and gastric cancer (GC) susceptibility, yet the results of these previous results have been inconsistent or controversial. AIM: To elaborate a meta-analysis to assess the association of -181A>G polymorphism of MMP-7 with CRC and GC risk. METHODS: Published literature evaluating the association from PubMed, Web of Science, Google Scholar and other databases were retrieved up to April 25, 2018. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model. RESULTS: A total of 19 case-control studies, which included eleven studies on CRC (2,169 CRC cases and 2,346 controls) and eight studies on GC (1,545 GC cases and 2,366 controls) were identified. There was a significant association between MMP-7 -181A>G polymorphism and GC risk under the homozygote model (GG vs. AA: OR=1.672, 95% CI 1.161-2.409, p=0.006) and the recessive model (GG vs. GA+AA: OR=1.672, 95% CI 1.319-2.554, p=0.001), but not with CRC. By subgroup analysis based on ethnicity, an increased risk of CRC and GC was found only among Asians. CONCLUSIONS: This meta-analysis suggests that MMP-7 -181A>G polymorphisms is associated with GC risk, but not with CRC. However, our results clearly showed that the MMP-7 -181A>G polymorphism significantly increased the risk of CRC only in Asians.


Assuntos
Neoplasias Colorretais/genética , Predisposição Genética para Doença , Metaloproteinase 7 da Matriz/genética , Polimorfismo Genético/genética , Neoplasias Gástricas/genética , Grupo com Ancestrais do Continente Asiático/genética , Predisposição Genética para Doença/etnologia , Humanos , Razão de Chances , Fatores de Risco
5.
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
6.
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
7.
Rev Soc Bras Med Trop ; 52: e20190133, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31508781

RESUMO

INTRODUCTION: Chagas disease (CD) is an important public health problem in Brazil and worldwide. Aging and obesity are important matters in patients with CD, as is hypovitaminosis D3, which can decrease the quality of life of these patients. Immunomodulation mediated by vitamin D3, especially the production of antimicrobial peptides such as cathelicidin LL-37, might be related to the severity and symptoms of CD. This study aimed to determine the serum levels of vitamin D and LL-37 and VDR gene polymorphisms in patients with chronic CD. METHODS: This study included male patients with cardiac and indeterminate clinical forms of CD. Clinical, anthropometric, and blood parameters were obtained. Serum levels of 25(OH)D3 and LL-37 were determined by chemiluminescence and enzyme-linked immunosorbent assay respectively. Fok (rs731236), Bsm (rs1544410), Apa (rs7975232), and Taq (rs731236) polymorphisms of the VDR gene were investigated by PCR-RFLP. RESULTS: Sixty-four patients were included in the study: 18 of the cardiac form and 46 of the indeterminate form. No differences in age, ethnicity, BMI, arterial hypertension, diabetes mellitus, or dyslipidemias were observed between groups. However, the serum levels of 25(OH)D3, but not of LL-37, were lower in the cardiac form group. The association among polymorphisms, vitamin D, and clinical form was not significant. CONCLUSIONS: Decreased levels of vitamin D suggest an association with the cardiac form of CD. Studies investigating the roles of vitamin D and LL-37 in the immune response and their associations with VDR polymorphisms and disease susceptibility are necessary.


Assuntos
Peptídeos Catiônicos Antimicrobianos/sangue , Doença de Chagas/sangue , Doença de Chagas/genética , Colecalciferol/sangue , Polimorfismo Genético/genética , Receptores de Calcitriol/genética , Biomarcadores/sangue , Humanos , Masculino , Pessoa de Meia-Idade
8.
Arch Endocrinol Metab ; 63(5): 501-508, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31482954

RESUMO

OBJECTIVE: To investigate the association of the genetic variants of the folate metabolism genes (MTHFR C677T; MTHFR A1298C; MTR A2756G; MTRR A66G and RFC-1 A80G) with the development of polycystic ovary syndrome (PCOS). SUBJECTS AND METHODS: This study included 203 women (99 women with PCOS and 104 controls). The genotyping was performed by PCR-RFLP. Chi-squared test and multiple logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the SNPstat program. The results were presented in odds ratio (OR) and confidence interval of 95% (CI-95%), with a significance level of 5% (p ≤ 0.05). RESULTS: The genotypic distribution of the RFC-1 A80G polymorphism showed significant difference between the two groups, showing that the heterozygous genotype (AG genotype) was most frequent in controls. The polymorphic homozygous (GG genotype) of MTRR A66G polymorphism were most frequent in controls. The T-C haplotype MTHFR C677T and A1298C polymorphisms were more frequent in the control group (OR = 0.19; CI 95% - 0.04 to 0.93 e p = 0.042). The multivariate analysis evidenced that family history of PCOS was more frequent in the PCOS group (OR = 3.29; CI 95% - 1.48 to 7.31; p = 0.003). CONCLUSION: In our casuistry, the polymorphic homozygous of MTRR A66G polymorphism gene and heterozygous of RFC-1 A80G polymorphism gene, the haplotype T-C C677T and A1298C polymorphisms of MTHFR gene, can be associated with protective factors for the disease.


Assuntos
Ácido Fólico/genética , Síndrome do Ovário Policístico/genética , Polimorfismo Genético/genética , Adulto , Estudos de Casos e Controles , Feminino , Ácido Fólico/metabolismo , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome do Ovário Policístico/metabolismo , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Adulto Jovem
9.
Arch Endocrinol Metab ; 63(4): 402-410, 2019 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-31365628

RESUMO

OBJECTIVE: The increased prevalence of obesity and associated comorbidities, such as cardiovascular and metabolic diseases, has gained attention worldwide, and the renin-angiotensin system (RAS) has been pointed out as a possible link. Thus, the present study aimed to verify the possible association between angiotensinogen (AGT) or angiotensin-converting enzyme (ACE) polymorphisms with overweight and obesity in adults. SUBJECTS AND METHODS: The present investigation was a population-based cross-sectional study including 1,567 individuals from an urban area in Brazil. Anthropometric, clinical and biochemical parameters were evaluated, and all individuals were genotyped for the ACE I/D and AGT M/T polymorphisms. RESULTS: The prevalence of overweight was higher among men, whereas obesity was more prevalent among women. However, the frequency of ACE or AGT polymorphisms was similar among body mass index (BMI) categories. In addition, the mean age-adjusted BMI averages did not change significantly for ACE or AGT polymorphisms, regardless of sex or BMI category. The age-adjusted BMI average for the combination of ACE and AGT genotypes evidenced no significant differences regardless of sex or BMI categories. Results were similar when BMI was replaced by waist circumference (WC). CONCLUSIONS: We were not able to find any associations between BMI and WC (overweight/obesity) and ACE and AGT polymorphisms, indicating that the RAS system might not be involved in overweight and obesity, at least based on genetic backgrounds. However, further studies must measure RAS components to elucidate this question.


Assuntos
Obesidade/genética , Sobrepeso/genética , Polimorfismo Genético/genética , Sistema Renina-Angiotensina/genética , Adulto , Distribuição por Idade , Angiotensinogênio/genética , Pressão Sanguínea , Índice de Massa Corporal , Brasil , Estudos Transversais , Feminino , Frequência do Gene/genética , Humanos , Masculino , Pessoa de Meia-Idade , Peptidil Dipeptidase A/genética , Distribuição por Sexo , Circunferência da Cintura
10.
Medicine (Baltimore) ; 98(27): e16314, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31277174

RESUMO

The Ladybird Homeobox 1 (LBX1) gene has been implicated in the etiology of adolescent idiopathic scoliosis (AIS). The association between LBX1 gene polymorphisms and AIS has been investigated in several studies. However, these findings have yield contradictory results rather than conclusive evidence.This study is to provide a meta-analysis of the published case-control studies on the association between LBX1 gene polymorphisms and AIS in Asian and Caucasian populations.This meta-analysis conformed to the Meta-Analysis of Observational Studies in Epidemiology (MOOSE) guidelines. We conducted a literature research on PubMed, Embase, Web of Science, and Cochrane Library until February 10, 2018. We included all case-control or cohort studies about association between LBX1 gene polymorphisms and AIS. The Risk Of Bias In Non-randomised Studies-of Interventions and Critical Appraisal Skills Programme were used to evaluate the risk of bias and study quality. We assessed the strength of association by pooled odds ratios (ORs) and 95% confidence intervals (CIs) in all genetic models under a fixed-effect model or random-effect model. We further performed subgroup analysis by ethnicity and sex. Sensitivity analysis and publication bias were also undertaken.A total of 10 studies (11,411 cases and 26,609 controls) were included in this meta-analysis. The pooled results showed a statistically significant association between LBX1 gene polymorphisms and AIS (for rs11190870, T vs C, OR = 1.54, 95% CI = 1.48-1.61, P < .00001; for rs625039, G vs A, OR = 1.50, 95% CI: 1.38-1.62; P < .00001; for rs678741, G vs A, OR = 0.74, 95% CI: 0.63-0.86; P < .0001; for rs11598564, G vs A, OR = 1.41, 95% CI: 1.31-1.51; P < .0001). For stratified analyses by ethnicity and sex, robust significant associations were detected in Asian and Caucasian populations, and in women and men under all genetic models.T allele of rs11190870 and G alleles of rs625039 and rs11598564 represent risk factors for AIS, but G allele of rs678741 may play a protective role in the occurrence of AIS. Further research is needed to confirm this finding and to understand its implications.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Grupo com Ancestrais do Continente Europeu/genética , Proteínas de Homeodomínio/genética , Polimorfismo Genético/genética , Escoliose/genética , Fatores de Transcrição/genética , Adolescente , Feminino , Humanos , Masculino , Estudos Observacionais como Assunto , Razão de Chances , Escoliose/etnologia
11.
PLoS Genet ; 15(6): e1008204, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31181058

RESUMO

We learn about population history and underlying evolutionary biology through patterns of genetic polymorphism. Many approaches to reconstruct evolutionary histories focus on a limited number of informative statistics describing distributions of allele frequencies or patterns of linkage disequilibrium. We show that many commonly used statistics are part of a broad family of two-locus moments whose expectation can be computed jointly and rapidly under a wide range of scenarios, including complex multi-population demographies with continuous migration and admixture events. A full inspection of these statistics reveals that widely used models of human history fail to predict simple patterns of linkage disequilibrium. To jointly capture the information contained in classical and novel statistics, we implemented a tractable likelihood-based inference framework for demographic history. Using this approach, we show that human evolutionary models that include archaic admixture in Africa, Asia, and Europe provide a much better description of patterns of genetic diversity across the human genome. We estimate that an unidentified, deeply diverged population admixed with modern humans within Africa both before and after the split of African and Eurasian populations, contributing 4 - 8% genetic ancestry to individuals in world-wide populations.


Assuntos
Evolução Molecular , Genética Populacional , Genoma Humano/genética , Hominidae/genética , África/epidemiologia , Grupo com Ancestrais do Continente Africano/genética , Animais , Ásia/epidemiologia , Europa (Continente)/epidemiologia , Fluxo Gênico/genética , Frequência do Gene , Humanos , Funções Verossimilhança , Desequilíbrio de Ligação , Modelos Genéticos , Polimorfismo Genético/genética
12.
Mol Immunol ; 112: 182-187, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31174011

RESUMO

Leporid VH genes used in the generation of their primary antibody repertoire exhibit highly divergent lineages. For the European rabbit (Oryctolagus cuniculus) four VHa lineages have been described, the a1, a2, a3 and a4. Hares (Lepus spp.) and cottontail (Sylvilagus floridanus) express one VHa lineage each, the a2L and the a5, respectively, along with a more ancient lineage, the Lepus spp. sL and S. floridanus sS. Both the European rabbit and the Lepus europaeus use a third lineage, VHn, in a low proportion of their VDJ rearrangements. The VHn genes are a conserved ancestral polymorphism that is being maintained in the leporid genome.Their usage in a low proportion of VDJ rearrangements by both European rabbit and L. europaeus but not S. floridanus has been argued to be a remnant of an ancient European leporid immunologic response to pathogens. To address this hypothesis, in this study we sequenced VDJ rearranged genes for another North American leporid, L. americanus. Our results show that L. americanus expressed these genes less frequently and in a highly modified fashion compared to the European Lepus species. Our results suggest that the American leporid species use a different VH repertoire than the European species which may be related with an immune adaptation to different environmental conditions, such as different pathogenic agents.


Assuntos
Lebres/genética , VDJ Recombinases/genética , Alelos , Sequência de Aminoácidos , Animais , Linhagem da Célula/genética , Rearranjo Gênico/genética , Filogenia , Polimorfismo Genético/genética , Coelhos
13.
Cent Eur J Public Health ; 27(2): 165-169, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31241294

RESUMO

OBJECTIVES: The aim of the study is to determine norms of polymorphic variation in the sequence of permanent teeth in Czech children in order to establish first standards applicable to individuals. Setting out such standards, derived from the population to which they will be applied, are essential for diagnoses in paediatric dentistry, orthodontic treatment planning and for anthropological application. METHODS: Dental examinations were performed on a sample of 1,370 children (696 girls and 674 boys) aged 4-15 years. All emerged permanent teeth (other than third molars), when at least some part of crown has penetrated the oral mucosa, and the child's gender were recorded. The frequency of sequence polymorphism was calculated for each gender by counting instances of absent/present and present/absent across all possible intra-arch and inter-arch tooth pairs. RESULTS: Differential frequencies of polymorphic sequences were more common in the inter-arch tooth pairs than in the intra-arch pairs. The most similar frequencies in inter-arch pairs were observed in second mandibular premolar/second maxillary premolar in both genders. However, in the mandible there was a polymorphic sequence in the first molar/central incisor pair in both genders. Furthermore, mandibular polymorphisms were more commonly observed in the sequences of canine/second premolar in girls than in boys. Additionally, canine/second premolar polymorphic sequences were found to be more common in the maxilla in both genders. CONCLUSIONS: The data presented in this article are useful in the prediction of tooth emergence sequence in individual Czech children and are important in paediatric dentistry and in orthodontic treatment.


Assuntos
Dentição Permanente , Polimorfismo Genético/genética , Erupção Dentária/genética , Adolescente , Fatores Etários , Criança , Pré-Escolar , Estudos Transversais , República Tcheca , Feminino , Humanos , Masculino , Fatores Sexuais
14.
J Dairy Sci ; 102(8): 6842-6852, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31178185

RESUMO

In the present study, we aimed to investigate the changes in triacylglycerol (TAG) composition as affected by alterations in the cows' diet due to seasonal variations and genetic factors. For this study, 50 milk fat samples in winter and 50 in summer were used from 25 cows with the DGAT1 KK genotype and 25 cows with the DGAT1 AA genotype. The samples were analyzed for milk fat content (%), fat composition, and TAG composition. We found that the content of TAG species CN54 was higher and that of CN34 and CN36 lower in summer than in winter. This seasonal variation in TAG profile was related to seasonal changes in the fatty acids C14:0, C16:0, C18:0, C18:1 cis-9, total unsaturated fatty acids, and total long-chain fatty acids, most likely resulting from dietary differences between seasons. Furthermore, we quantified the effect of DGAT1 K232A polymorphism on TAG profile and detected a significant effect on TAG species CN36, with higher values for the DGAT1 KK genotype. When adjusting for differences in fat content, we found no significant effects of the DGAT1 K232A polymorphism on TAG profile. We detected a significant interaction between DGAT1 K232A polymorphism and season for TAG species CN42 and CN52; in summer, the KK genotype was associated with higher levels for CN42 than the AA genotype, whereas in winter, the difference between the genotypes was small. For CN52, in summer the AA genotype was associated with higher levels than the KK genotype. In winter, the difference between the genotypes was also small. We show that, regardless of preference for DGAT1 genotype (AA or KK) and depending on the availability of FA according to season, UFA (C18:1 cis-9), short-chain FA (C6:0 and C10:0), and medium-chain FA might be esterified on the glycerol backbone of the TAG, keeping the structure characteristics of each TAG species. To our knowledge, this is the first report on the interaction effect of DGAT1 K232A polymorphism and season on the TAG composition in milk fat.


Assuntos
Bovinos/genética , Diacilglicerol O-Aciltransferase/genética , Dieta/veterinária , Genótipo , Leite/química , Triglicerídeos/análise , Animais , Bovinos/fisiologia , Ácidos Graxos/análise , Ácidos Graxos Insaturados/análise , Feminino , Polimorfismo Genético/genética , Estações do Ano
15.
Diabetes Res Clin Pract ; 153: 76-85, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31152805

RESUMO

AIMS: Serotonin, or 5-hydroxytryptamine (5-HT), and serotonin receptor (HTR) subtypes contribute to controlling energy homeostasis. We investigated the association of polymorphisms of serotonin related genes with type 2 diabetes in Korean adults using a community-based prospective cohort study. METHODS: A total of 8840 participants (4205 Ansung, 4635 Ansan) from the Korean Genome and Epidemiology Study (KoGES)-Ansan and Ansung were included. The mean follow-up duration was 7.6 years, and the Ansan and Ansung cohorts were treated as independent replicates. Individuals with existing and new-onset type 2 diabetes were identified at baseline and follow-up evaluations, respectively. Logistic regression analysis was used to evaluate the association of 3402 single nucleotide polymorphisms (SNPs) in serotonin related genes with type 2 diabetes after adjusting for baseline age, sex, body mass index, drinking status, and smoking status. RESULTS: The baseline case-control comparison revealed significant association of 26 SNPs in HTR3B and HTR2A with type 2 diabetes. Interestingly, HTR3B SNP rs1176744, which is involved in behavioral disorders, was associated with type 2 diabetes (p-value = 0.0002). Furthermore, HTR3B polymorphisms that significantly associated with type 2 diabetes were located in the 3' downstream region. The new-onset type 2 diabetes case-control study revealed significant association of 3 additional SNPs of the HTR4. CONCLUSIONS: We found that rs1176744 in HTR3B was associated with type 2 diabetes. Additionally, our study suggests that polymorphisms in the downstream region of HTR3B may contribute to the development of type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Genômica/métodos , Polimorfismo Genético/genética , Receptores de Serotonina/genética , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Coreia (Geográfico) , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
16.
Medicine (Baltimore) ; 98(23): e15955, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31169721

RESUMO

Many studies have investigated the association between the 3'UTR polymorphism in natural resistance-associated macrophage protein 1 (NRAMP1) and the risk of pulmonary tuberculosis (PTB), Revealing inconclusive results. This study aimed to investigate the correlation between the NRAMP1 3'UTR polymorphism and the risk of PTB.This meta-analysis included 29 case-control studies to better and comprehensively assess this correlation. Pooled odds ratios (ORs) and 95% confidence interval (95% CIs) were calculated to assess the strength of the association.These 29 case-control studies included 4672 cases and 6177 controls. The NRAMP1 3'UTR polymorphism displayed a significant positive correlation with the risk of PTB in 3 models (for del/del vs ins/ins: OR = 1.22, 95% CI = 1.01-1.47; for Ins/del vs ins/ins: OR = 1.19, 95% CI 1.08-1.30; for Ins/del + del/del vs ins/ins: OR = 1.25, 95% CI = 1.08-1.45). A stratified analysis by ethnicity revealed that the NRAMP1 3'UTR polymorphism was associated with an increased risk of PTB in the Asian population, but not in Caucasian, African, and South American populations.The present results indicate that the NRAMP1 3'UTR polymorphism may be considered a risk factor for PTB in the Asian population.


Assuntos
Regiões 3' não Traduzidas/genética , Proteínas de Transporte de Cátions/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético/genética , Tuberculose Pulmonar/genética , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Razão de Chances , Fatores de Risco
17.
Arch Endocrinol Metab ; 63(3): 272-279, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31038597

RESUMO

OBJECTIVE: The aims of this study were to investigate changes in serum paraoxonase 1 (PON1) activity in women at the pre and postmenopausal stages and its association with the PON1 C(-107)T polymorphism and food intake profile. SUBJECTS AND METHODS: A cross-sectional study with female patients aged between 35 and 59 years old was conducted. Women were divided into two groups: premenopausal (n = 40) and postmenopausal (n = 36). Women enrolled in the study had serum PON1, total cholesterol, HDL, LDL, glucose and HbA1c, as well as the BMI measured. Additionally, women were genotyped for the PON1 T(-107)C polymorphism and the food intake profile was obtained through interview. RESULTS: Glucose (p = 0.03), HbA1c (p = 0.002) and total cholesterol (p = 0.002)concentrations were higher in post than premenopausal women, however PON1 activity was not different (p > 0.05). Carriers of the C allele had higher PON1 activity (CC: 88.9 ± 6.5 U/mL and CT: 79.9 ± 4.7 U/mL) than women of the TT genotype (66.6 ± 5.9 U/mL) (p < 0.05). However, the model predicting PON1 activity was slightly better when genotype, total fat and cholesterol content in the diet were all included. CONCLUSION: In sum, we observed that the PON1 C(-107)T genotype was the major regulator of PON1 activity, and menopause had no effect on PON1 activity. The lipid and glycemic profile were altered in postmenopausal women.


Assuntos
Arildialquilfosfatase/sangue , Ingestão de Alimentos , Polimorfismo Genético/genética , Pós-Menopausa/sangue , Pré-Menopausa/sangue , Adulto , Arildialquilfosfatase/genética , Estudos Transversais , Feminino , Genótipo , Humanos , Pós-Menopausa/metabolismo , Pré-Menopausa/metabolismo
18.
Med Sci Monit ; 25: 3390-3396, 2019 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-31064975

RESUMO

BACKGROUND This study aimed to explore the association of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphisms with left ventricular hypertrophy (LVH) in Han and Uighur hypertension-OSAHS (obstructive sleep apnea hypopnea syndrome) patients in China. MATERIAL AND METHODS A total of 162 Han and 72 Uygur patients with hypertension-OSAHS were independently subdivided into an LVH group and a non-LVH (NLVH) group based on the left ventricular mass index. The insertion/deletion polymorphisms of ACE gene were determined by polymerase chain reaction. The association of ACE gene insertion/deletion polymorphisms with LVH was assessed by chi-squared test. Logistic regression analysis was performed to obtain the odds ratios and 95% confidence intervals for the risk of LVH after adjusting for confounding factors. RESULTS In Uighur patients, the distributions of D allele and DD genotype showed significant differences between the LVH group and the NLVH group. The difference of DD genotype remained significant after multivariate adjustment. In contrast, no significant differences were observed in the distributions of D allele and DD genotype between the LVH group and the NLVH group in Han patients. Moreover, moderate-severe OSAHS was an independent risk factor for LVH. CONCLUSIONS D allele and DD genotype of ACE gene are possible genetic markers for the risk of LVH in Uighur but not Han hypertension-OSAHS patients.


Assuntos
Hipertrofia Ventricular Esquerda/genética , Peptidil Dipeptidase A/genética , Apneia Obstrutiva do Sono/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático/genética , China , Grupos Étnicos/genética , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Hipertensão/complicações , Hipertensão/genética , Hipertrofia Ventricular Esquerda/fisiopatologia , Mutação INDEL/genética , Masculino , Pessoa de Meia-Idade , Peptidil Dipeptidase A/fisiologia , Reação em Cadeia da Polimerase , Polimorfismo Genético/genética , Fatores de Risco , Apneia Obstrutiva do Sono/complicações
19.
Medicine (Baltimore) ; 98(18): e15468, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31045826

RESUMO

OBJECTIVE: Previous studies have reported an association between cyclooxygenase-2 (COX-2) polymorphism and gastric cancer (GC) susceptibility, but their results are controversial. This meta-analysis was intended to evaluate the relationship between the COX-2 rs20417 polymorphism and GC susceptibility in different ethnic groups. METHODS: We searched PubMed, EMBASE, Web of Knowledge, and the Chinese Biomedical Database (CBM) for relevant case-control studies published up to October 6, 2018, which reported an association between the COX-2 rs20417 polymorphism and gastric cancer risk. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of this association. RESULTS: 15 papers detailing case-control studies were included in the analysis, which included a total of 2848 GC cases and 4962 healthy controls. The meta-analysis results indicated that the COX-2 rs20417 polymorphism was associated with increased GC susceptibility under allele (G vs C: OR = 1.67, 95%CI = 1.19-2.35, P = .003), heterozygous (GG vs CG: OR = 1.44, 95%CI = 1.03-2.02, P = .034), dominant (GC+CC vs GG: OR = 1.66, 95%CI = 1.18-2.34, P = .004), homozygous (GG vs CC:OR = 2.20, 95%CI = 1.07-4.54, P = .033), and recessive models (CC vs GG+CG:OR = 2.05, 95%CI = 1.09-3.85, P = .025). An analysis of ethnic subgroups revealed that the COX-2 rs20417 polymorphism was significantly associated with GC susceptibility in Asians under all 5 models (G vs C: OR = 2.22, 95%CI = 1.66-2.96, P < .001; GG vs CC: OR = 4.29, 95%CI = 1.94-9.50, P < .001; GG vs CG: OR = 1.86, 95%CI = 1.34-2.58, P < .001; CC vs GG+CG: OR = 3.73, 95%CI = 1.92-7.24, P < .001; GC+CC vs GG: OR = 2.20, 95%CI = 1.65-2.93, P < .001). Helicobacter pylori positive patients suffered a high risk of GC, compared to H pylori negative patients under the dominant model (OR = 3.09, 95%CI = 1.80-5.32, P < .001). CONCLUSION: This meta-analysis of 15 case-control studies provides strong evidence that the COX-2 rs20417 polymorphism increases the risk of GC susceptibility in general populations, especially in Asians. Helicobacter pylori positive patients and those with the COX-2 rs20417 polymorphism had a higher risk of developing GC.


Assuntos
Ciclo-Oxigenase 2/genética , Predisposição Genética para Doença/genética , Infecções por Helicobacter/genética , Polimorfismo Genético/genética , Neoplasias Gástricas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Infecções por Helicobacter/microbiologia , Helicobacter pylori , Humanos , Razão de Chances , Neoplasias Gástricas/microbiologia
20.
J Coll Physicians Surg Pak ; 29(5): 418-421, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31036109

RESUMO

OBJECTIVE: To compare the distribution of HLA-B*27 subtypes in healthy controls and in ankylosing spondylitis (AS) patients of different ethnic groups from Pakistan. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from April 2016 to October 2017. METHODOLOGY: Forty-nine HLA-B*27 positive, unrelated AS patients and 18 HLA-B*27 positive healthy BMT/renal transplant donors were selected for this study. Typing of the HLA-B27 alleles was performed by the polymerase chain reaction-sequence-specific primer (PCR-SSP). RESULTS: There was a wide number of HLA-B*27 subtypes and an elevated frequency of the B*2707 allele in the AS patients. The allele B*2706 seems to have a protective role in the population studied because it was found only in the healthy controls. HLA-B*27:03 and 07 were found predominant subtypes in Punjabis and Pathans, respectively. CONCLUSION: There were no significant differences for the distribution of B*27 subtypes between patients and controls (p >0.05).


Assuntos
Antígeno HLA-B27/genética , Polimorfismo Genético/genética , Espondilite Anquilosante/genética , Alelos , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Paquistão , Reação em Cadeia da Polimerase , Espondilite Anquilosante/etnologia , Espondilite Anquilosante/imunologia
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