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Associations between methylenetetrahydrofolate reductase polymorphisms and hepatocellular carcinoma risk in Chinese population.
Qi, X, Sun, X, Xu, J, Wang, Z, Zhang, J, Peng, Z
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2014;(3):1757-62
Abstract
Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene are considered to have some influence on both folate metabolism and cancer risk. Previous studies on the associations of MTHFR genetic polymorphisms with hepatocellular carcinoma (HCC) risk in Chinese population reported inconsistent results. We performed this meta-analysis to comprehensively assess the associations. Finally, 12 individual case-control studies were included into the meta-analysis. There were seven studies (6,384 subjects) on the MTHFR C677T polymorphism and five studies (4,502 subjects) on the MTHFR A1298C polymorphism. Overall, MTHFR C677T polymorphism was significantly associated with susceptibility to HCC in Chinese population (T versus C, odds ratio (OR) = 1.09, 95 % confidence interval (95% CI) 1.01-1.17; TT versus CC, OR = 1.17, 95% CI 1.00-1.38; TT/CT versus CC, OR = 1.12, 95% CI 1.00-1.26). MTHFR A1298C polymorphism was conversely associated with HCC risk in Chinese population (CC versus AA, OR = 0.65, 95% CI 0.46-0.91; CC versus AA/AC, OR = 0.64, 95% CI 0.46-0.90). The sensitivity analysis confirmed the reliability and stability of the meta-analysis. Thus, the findings from our meta-analysis support the associations of MTHFR C677T and A1298C polymorphisms with HCC risk in Chinese population.
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2.
Mutation screening of the HDC gene in Chinese Han patients with Tourette syndrome.
Lei, J, Deng, X, Zhang, J, Su, L, Xu, H, Liang, H, Huang, X, Song, Z, Deng, H
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2012;(1):72-6
Abstract
Tourette Syndrome (TS) is a complex neuropsychiatric disorder characterized by vocal and motor tics. While environmental causes have been proposed to play a role, genetic factors are believed to be the main determinants of the disorder and its clinical manifestations. Recently, a heterozygous W317X mutation in the histidine decarboxylase gene (HDC) was reported to be responsible for TS in a two-generation pedigree. To investigate whether the HDC gene play a role in TS in Chinese Han population, we performed genetic analysis of the coding region of the HDC gene in 100 Chinese Han patients with TS. Three variants were found including a C > T transition (IVS1 + 52C > T), a novel C > A transition (c.426C > A) in exon 4, and a novel G > A transition (c.1743G > A) in exon 12, both predicted with no amino acid change. Extended analysis was conducted in a total of 120 TS patients and 240 sex, age, and ethnicity matched healthy controls. No significant differences in genotypic and allele distribution between patients and controls for these three variants (P = 0.274, P = 1.000 and P = 0.632 for genotypic distribution, respectively; P = 0.143, P = 1.000 and P = 0.582 for allele distribution, respectively) were observed, suggesting variants in the HDC gene may play little or no role in TS susceptibility in Chinese Han population.
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3.
Polymorphisms in the vitamin D receptor gene and type 1 diabetes mellitus risk: an update by meta-analysis.
Zhang, J, Li, W, Liu, J, Wu, W, Ouyang, H, Zhang, Q, Wang, Y, Liu, L, Yang, R, Liu, X, et al
Molecular and cellular endocrinology. 2012;(1):135-42
Abstract
Four well known polymorphisms (BsmI, FokI, ApaI, TaqI) in the VDR gene have been implicated in susceptibility to type 1 diabetes mellitus (T1DM), but the results to date have been inconclusive. The aim of this study was to investigate the association between polymorphisms in the VDR gene and T1DM risk by meta-analysis. A total of 57 case-control studies in 26 published studies were included. The results indicated that the BsmI polymorphism is associated with increased risk of T1DM (BB+Bb vs. bb: OR=1.30, 95% CI=1.03-1.63), while the FokI, ApaI and TaqI polymorphisms were not. In the subgroup analysis by ethnicity, the increased risk of T1DM remained in the Asian subgroup for the BsmI polymorphism; whereas no significant association was found in other populations for other polymorphisms. Results from the current study suggest that the BsmI polymorphism is associated with increased risk of T1DM, especially in Asians. Further studies are needed to confirm our results.
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4.
The Arg194Trp polymorphism in the XRCC1 gene and cancer risk in Chinese Mainland population: a meta-analysis.
Huang, J, Zhang, J, Zhao, Y, Liao, B, Liu, J, Li, L, Liao, M, Wang, L
Molecular biology reports. 2011;(7):4565-73
Abstract
The Arg194Trp polymorphism in the X-ray repair cross-complementing group 1 (XRCC1) gene has been proved to be in association with cancer risk in Chinese Mainland population, but a large number of studies have reported inconclusive results. A more comprehensive and precise estimation of the relationship is needed to clear the way towards future studies. Thus, we performed a meta-analysis to analysis these associations. A total of 34 case-control studies in 34 articles were included in this meta-analysis. The results showed that the 194Trp/Trp homozygote had a 31% increased risk of cancer than 194Trp/Arg and 194Arg/Arg genotypes, OR was 1.31 and 95%CI was 1.13 to 1.53. In the subgroup analysis by cancer sites, the Arg194Trp polymorphism was associated with increased risks of lung cancer (OR = 1.27 and 95%CI: 1.07-1.50 for Trp/Trp versus Arg/Arg + Arg/Trp) and esophageal cancer (OR = 1.68 and 95%CI: 1.33-2.13 for Trp/Trp versus Arg/Arg + Arg/Trp). This meta-analysis suggested that the Arg194Trp polymorphism of the XRCC1 gene is a cancer susceptible factor among Chinese Mainland population. More intensive and deeper studies are needed to further reveal the mechanism between Arg194Trp polymorphisms of XRCC1 gene and cancer risks in Chinese Mainland population.
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5.
Meta-analysis added power to identify variants in FTO associated with type 2 diabetes and obesity in the Asian population.
Liu, Y, Liu, Z, Song, Y, Zhou, D, Zhang, D, Zhao, T, Chen, Z, Yu, L, Yang, Y, Feng, G, et al
Obesity (Silver Spring, Md.). 2010;(8):1619-24
Abstract
Several common variants in the intron 1 of FTO (fat mass and associated obesity) gene have been reliably associated with BMI and obesity in European populations. We analyzed two variants (rs9939609 and rs8050136) in 4,189 Chinese Han individuals and conducted a meta-analysis of published studies in Asian population to investigate whether these variants are associated with type 2 diabetes (T2D) and obesity in Asian population. In this study, both the minor allele A of rs9939609 and the minor allele A of rs805136 were associated with increased risk of T2D, independent of measures of BMI; the odds ratios (ORs) per copy of the risk allele were 1.19 for rs9939609 (95% confidence interval (CI), 1.04-1.37; P = 0.01) and 1.22 for rs8050136 (95% CI, 1.07-1.40; P = 0.004) after adjusting for age, sex, and BMI. Our results also showed association with risk of obesity (rs9939609: OR = 1.39 (95% CI 1.04-1.85), P = 0.02; rs8050136: OR = 1.45 (95% CI 1.09-1.93), P = 0.01) but no association with overweight. These results were consistent with the pooled results from our meta-analysis study (for diabetes, rs8050136, P = 1.3 x 10(-3); rs9939609, P = 9.8 x 10(-4); for obesity, rs8050136, P = 2.2 x 10(-7); rs9939609, P = 9.0 x 10(-9)). Our findings indicate that the two variants (rs9939609 and rs8050136) in the FTO gene contribute to obesity and T2D in the Asian populations.