Polymorphism In Asians Research Articles

Correlation of BARD1 gene polymorphisms with risk of neuroblastoma: a meta-analysis

BRCA1-associated RING domain protein 1 (BARD1) gene polymorphisms may be associated with neuroblastoma (NB) susceptibility. However, the results remain controversial. Relevant studies were identified by searching PubMed, Web of Science, Embase, China National Knowledge Infrastructure databases up to March 5, 2023. The strength of the association between BARD1 polymorphisms and susceptibility of NB was assessed by calculating odds ratios (ORs) and 95% confidence intervals (95% CIs) through the fixed- or random-effects model. Eight articles involving 12 studies were finally included. We found that rs6435862 T > G, rs3768716 A > G, rs17487792 C > T and rs7587476 C > T variant increase the risk of NB in allelic, dominant, recessive, homozygous and heterozygous genetic models, while rs7585356 G > A variant appeared protective against NB. When stratified by ethnicity, subgroup analysis indicated that the above association remained significant in Caucasian populations in all genetic models, except for rs7585356G > A polymorphism in Asians. In Asian populations, we found the similar results in the allelic and dominant model of rs6435862 T > G, rs3768716 A > G, rs17487792 C > T and rs7587476 C > T as in Caucasians, while there lacked a significant association in the other three model. In addition, rs7585356 G > A was not associated with an increased risk of NB in the Asian population. After Bonferroni correction, significant associations for rs7585356 G > A disappeared in both Asian and Caucasian populations, with no significant association found for rs7587476 in the allelic and dominant models among Asians. BARD1 polymorphisms might be significantly associated with NB susceptibility. It is crucial that these finding should be further confirmed through extensive and well-planned studies.

Aldehyde dehydrogenase 2 polymorphism is associated with chemotherapy-related cognitive impairment in patients with breast cancer who receive chemotherapy.

Chemotherapy-related cognitive impairment (CRCI) is a common but easily overlooked condition that markedly affects the quality of life (QOL) of patients with breast cancer. The rs671 is a common gene polymorphism of aldehyde dehydrogenase 2 (ALDH2) in Asia that is involved in aldehyde metabolism and may be closely related to CRCI. However, no study has yet summarised the association between ALDH2 and CRCI. This study enrolled one hundred and twenty-four patients diagnosed with breast cancer according to the pathology results, genotyped for ALDH2 single-nucleotide polymorphisms (SNP) to explore these. The mini-mental state exam (MMSE), verbal fluency test (VFT), and digit span test (DST) results were compared in these patients before and after chemotherapy (CT). We found that patients with ALDH2 gene genotypes of rs671_GG, rs886205_GG, rs4648328_CC, and rs4767944_TT polymorphisms were more likely to suffer from cognitive impairment during chemotherapy. A trend toward statistical significance was observed for rs671_GG of DST (z=2.769, p=0.006), VFT (t=4.624, P<0.001); rs886205_GG of DST (z=3.663, P<0.001); rs4648328_CC of DST (z=2.850, p=0.004), VFT (t=3.477, p=0.001); and rs4767944_TT of DST (z=2.967, p=0.003), VFT (t=2.776, p=0.008). The cognitive indicators of these patients significantly decreased after chemotherapy (p < 0.05). The difference in ALDH2 rs671 was most obvious. Our results showed what kinds of ALDH2 genotyped patients that are more likely to develop CRCI. In the future, it may be possible to infer the risk of CRCI by detecting the single-nucleotide locus of ALDH2 that is conducive to strengthening clinical interventions for these patients and improving their QOL. More importantly, this study has important implications for Asian women with breast cancer as ALDH2 rs671 is a common polymorphism in Asians.

Ethnicity Differences in the Association of UCP1-3826A/G, UCP2-866G/A and Ala55Val, and UCP3-55C/T Polymorphisms with Type 2 Diabetes Mellitus Susceptibility: An Updated Meta-Analysis.

Background The relationship between uncoupling protein (UCP) 1-3 polymorphisms and susceptibility to type 2 diabetes mellitus (T2DM) has been extensively studied, while conclusions remain contradictory. Thus, we performed this meta-analysis to elucidate whether the UCP1-3826A/G, UCP2-866G/A, Ala55Val, and UCP3-55C/T polymorphisms are associated with T2DM. Methods Eligible studies were searched from PubMed, Cochrane Library, and Web of Science database before 12 July 2020. Pooled odds ratios (ORs) with corresponding 95% confidence intervals (CIs) were calculated to evaluate the strength of the association. Heterogeneity analysis, subgroup analysis, sensitivity analysis, and publication bias were also performed. Results A total of 38 case-control studies were included in this meta-analysis. The overall results revealed significant association between T2DM and the UCP2 Ala55Val polymorphism (recessive model: OR = 1.25, 95% CI 1.12-1.40, P < 0.01; homozygous model: OR = 1.33, 95% CI 1.03-1.72, P = 0.029, respectively). In subgroup analysis stratified by ethnicity, T2DM risk was increased with the UCP2 Ala55Val polymorphism (allele model: OR = 1.17, 95% CI 1.02-1.34, P = 0.023; recessive model: OR = 1.28, 95% CI 1.13-1.45, P < 0.01; homozygous model: OR = 1.39, 95% CI 1.05-1.86, P = 0.023, respectively), while decreased with the UCP2-866G/A polymorphism in Asians (dominant model: OR = 0.86, 95% CI 0.74-1.00, P = 0.045). Conclusions Our results demonstrate that the UCP2-866G/A polymorphism is protective against T2DM, while the UCP2 Ala55Val polymorphism is susceptible to T2DM in Asians.

Interleukin Polymorphisms and Predisposition of Systemic Lupus Erythematosus: A Meta-Analysis

Background: It is plausible that interleukin polymorphisms may affect predisposition of autoimmune disorders such as systemic lupus erythematosus (SLE), but the results of so far published studies remain controversial. Objectives: The authors conducted this meta-analysis to clarify relationships between interleukin-1 (IL-1)/interleukin-4 (IL-4)/interleukin-6 (IL-6)/interleukin-10 (IL-10) polymorphisms and SLE by pooling the findings of eligible studies. Methods: A comprehensive search of PubMed, EMBASE, Web of Science, and CNKI was endorsed by the authors to identify already published studies. Fifty-seven studies were found to be eligible for meta-analyses. Results: The overall pooled meta-analyses yielded positive findings for IL-1A −889 C/T, IL-1B −31 T/C, IL-6 −174 G/C, IL-4 −590 C/T, and IL-10 −1,082 A/G polymorphisms. In addition, we also detected similar positive findings for IL-1B −511 C/T, IL-4 −590 C/T, IL-10 −592 A/C, IL-10 −819 C/T, and IL-10 −1,082 A/G polymorphisms in Asians, and such positive findings were also observed for IL-1A −889 C/T, IL-6 −174 G/C, and IL-10 −1,082 A/G polymorphisms in Caucasians. Conclusions: The meta-analyses’ results suggest that IL-1A −889 C/T, IL-1B −31 T/C, IL-6 −174 G/C, IL-4 −590 C/T, and IL-10 −1,082 A/G polymorphisms might affect predisposition of SLE.

Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis.

Objective:To explore the relationship between the polymorphism of angiotensinogen gene (AGT) M235T and susceptibility to hypertrophic cardiomyopathy (HCM) in Asian population by meta-analysis.Methods:PubMed, Embase, Web of Science, Cochrane library, CNKI, Wan Fang, and other databases were searched to collect the literature about AGT M235T polymorphism and HCM from the inception to March 1, 2020. The Newcastle-Ottawa Scale (NOS) checklist was uesd to perform independent literature review and study quality assessment. Data was analyzed by Stata 15.0 software.Results:The results showed that, except for the recessive genetic model (TT vs MT+MM: OR = 1.27, 95%CI: 1.05–1.53), in the other four genetic models, the M235T polymorphism had no significant correlation with the risk of HCM (T vs M: OR = 1.17, 95%CI: 0.88–1.57; TT+MT vs MM: OR = 1.13, 95%CI: 0.55–2.33; TT vs MM: OR = 1.25, 95%CI: 0.60–2.59; TM vs MM: OR = 0.95, 95%CI0.5–1.82). The results of subgroup analysis showed that, except for the heterozygous genetic model, in the other four genetic models, M235T polymorphism was significantly associated with sporadic hypertrophic cardiomyopathy (SHCM), but not with familial hypertrophic cardiomyopathy (FHCM) (p > 0.05).Conclusion:M235T polymorphism in Asians is associated with HCM, especially SHCM. Heterozygotes increase the risk of patients with SHCM.

An insertion-deletion polymorphism in angiotensin-converting enzyme is associated with a reduced risk of preeclampsia: an evidence-based meta-analysis from 44 studies

ABSTRACT Objective An updated meta-analysis was performed to evaluate the relationship between an insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme (ACE) and preeclampsia (PE) risk. Methods Pubmed, OVID and China National Knowledge Infrastructure databases were searched. Pooled odds ratios with 95% confidence intervals were calculated using fixed-effects or random-effects model. Results ACE I/D polymorphism decreased the risk of PE in overall analysis. Subgroup analysis revealed a significantly lower risk of PE with ACE I/D polymorphism in Asians, Caucasians. The decreased risk was also found in severe PE and early-onset PE. Conclusion ACE I/D polymorphism may protect against the development of PE.

Investigations of Associations between Seven Gene Polymorphisms and Gestational Diabetes Mellitus: Evidence From a Meta-Analysis

Background: Associations of polymorphisms in transcription factor 7 like 2 (TCF7L2), tumor necrosis factor-α (TNF-α), vitamin D receptor (VDR), and interleukin-10 with gestational diabetes mellitus (GDM) were already reported by several publications. Objectives: The aim of this meta-analysis was to better clarify associations between these polymorphisms and GDM by combing the results of all relevant publications. Methods: Eligible publications were searched from Pubmed, Embase, WOS, and CNKI. We used Review Manager to combine the results of individual studies. Results: Thirty-nine studies were included in this study. Combined results revealed that TCF7L2 rs290487, TCF7L2rs7901695, TCF7L2rs7903146, TCF7L2 rs12255372, TNF-α rs1800629, and VDR FokI rs2228570 polymorphisms were all significantly associated with susceptibility to GDM in the total population. In subgroup analyses, we obtained similar positive findings for rs290487, rs7903146, rs1800629, and rs2228570 polymorphisms in Asians, and positive results were also observed for rs7901695, rs7903146, and rs12255372 polymorphisms in Caucasians. Conclusions: Collectively, this meta-analysis proved that TCF7L2 rs290487, TCF7L2rs7901695, TCF7L2rs7903146, TCF7L2 rs12255372, TNF-α rs1800629, and VDR FokI rs2228570 polymorphisms may confer susceptibility to GDM in certain populations.

Associations between Seven Common Cytokine Gene Polymorphisms and Coronary Artery Disease: Evidence from a Meta-Analysis

Background: Associations of polymorphisms in interferon-gamma (IFNG), interleukin-10 (IL-10), and interleukin-18 (IL-18) with coronary artery disease (CAD) have already been investigated by many studies, yet the findings of these studies have been somewhat inconsistent. Objectives: The aim of this meta-analysis was to better clarify associations between polymorphisms in IFNG/IL-10/IL-18 and CAD by combing the results of all relevant articles. Methods: Eligible articles were searched from PubMed, EMBASE, WOS, and CNKI. We used Review Manager to combine the results of indi­vidual studies. Results: Fifty-one studies were included in this meta-analysis. Combined results revealed that IFNG rs243056, IL-10rs1800871, IL-18rs187238, IL-18rs1946518, and IL-18rs1946519 polymorphisms were all significantly associated with CAD in the general population. We also obtained similar significant results for IFNG rs243056, IL-10rs1800871, IL-10 rs1800896, IL-18rs187238, IL-18rs1946518, and IL-18rs1946519 polymorphisms in Asians in further subgroup analyses. Conclusions: Collectively, this meta-analysis proved that IFNG rs243056, IL-10rs1800871, IL-10 rs1800896, IL-18rs187238, IL-18rs1946518, and IL-18rs1946519 polymorphisms may confer susceptibility to CAD for Asians.

VDR Gene Polymorphisms and Allergic Diseases: Evidence from a Meta-analysis

ABSTRACTAssociations between vitamin D receptor (VDR) gene polymorphisms and allergic diseases were already reported by many publications. The aim of this meta-analysis was to clarify associations between VDR gene polymorphisms and allergic diseases by combing the results of all relevant publications. Eligible publications were searched from Pubmed, Embase, WOS and CNKI. We used Review Manager to combine the results of individual studies. Twenty-one studies were included in this study. Combined results proved that VDR rs1544410 BsmI (over-dominant comparison: p = .04, OR = 1.14, 95% CI 1.01–1.29; allele comparison: p = .03, OR = 1.11, 95% CI 1.01–1.22) and rs731236 TaqI (dominant comparison: p = .01, OR = 1.18, 95% CI 1.04–1.33) polymorphisms were both associated with allergic diseases. In subgroup analyses by type of disease, we confirmed positive results for rs1544410 BsmI polymorphism in both asthma and atopic dermatitis, and for rs731236 TaqI polymorphism in atopic dermatitis. Besides, in subgroup by ethnicity of participants, we observed significant associations with allergic diseases for rs7975232 ApaI polymorphism in Caucasians, for rs1544410 BsmI polymorphism in Asians and Caucasians, and for rs731236 TaqI polymorphism in Asians. We also investigated associations between VDR rs2228570 FokI polymorphism and allergic diseases, yet no any positive results were detected for this polymorphism. If we only focused on asthma, then positive findings were detected for rs1544410 BsmI polymorphism in Caucasians, and for rs731236 TaqI polymorphism in Asians. Collectively, this meta-analysis proved that VDR rs7975232 ApaI, rs1544410 BsmI and rs731236 TaqI gene polymorphisms may confer susceptibility to allergic diseases in certain populations.

LOC643714 Polymorphisms Contribute to an Elevated Susceptibility to Breast Cancer: A Meta-analysis of 231,191 Subjects

BackgroundSeveral recent genome-wide association studies tried to explore associations between LOC643714 polymorphisms and breast cancer (BC). However, the results of these studies were inconsistent. The purpose of this meta-analysis was to better analyze the effects of LOC643714 polymorphisms on individual susceptibility to BC in a larger pooled population. Materials and MethodsPubMed, Web of Science, and Embase were searched for eligible studies. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of associations. ResultsIn total, 42 studies with 231,191 subjects were analyzed. Significant associations with BC were observed for rs3803662 (dominant comparison: OR, 0.89; 95% CI, 0.84-0.95; P = .0008; recessive comparison: OR, 1.17; 95% CI, 1.07-1.28; P = .0004; over-dominant comparison: OR, 1.07; 95% CI, 1.02-1.11; P = .002; allele comparison: OR, 0.90; 95% CI, 0.86-0.95; P = .0002), rs8051542 (dominant comparison: OR, 0.87; 95% CI, 0.83-0.91; P < .0001; recessive comparison: OR, 1.19; 95% CI, 1.11-1.28; P < .0001; over-dominant comparison: OR, 1.07; 95% CI, 1.02-1.11; P = .004; allele comparison: OR, 0.89; 95% CI, 0.86-0.91; P < .0001), and rs12922061 (dominant comparison: OR, 0.83; 95% CI, 0.73-0.93; P = .002; over-dominant comparison: OR, 1.43; 95% CI, 1.27-1.61; P < .0001) polymorphisms in the overall population. Further subgroup analyses yielded similar positive results for rs3803662 and rs8051542 polymorphisms in Asians, Caucasians, and Africans, for rs12443621 polymorphism in Caucasians, and for rs12922061 polymorphism in Asians. ConclusionsOur findings suggested that LOC643714 rs3803662, rs8051542, rs12443621, and rs12922061 polymorphisms were all significantly associated with BC in certain populations.

Association of TFPI polymorphisms rs8176592, rs10931292, and rs10153820 with venous thrombosis: A meta-analysis.

Background:Tissue factor pathway inhibitor (TFPI) polymorphisms are known to be involved in venous thrombosis; however, any correlation between the TFPI polymorphisms rs8176592, rs10931292, and rs10153820 and venous thrombosis remains controversial. This meta-analysis aimed to elucidate the relationship between these TFPI polymorphisms and the susceptibility to venous thrombosis.Methods:A literature search for relevant studies was conducted in PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), and Wanfang Med Online databases. Odds ratios (ORs) and their corresponding 95% confidence intervals (95% CIs) were calculated using fixed-effect/random-effect models by the STATA 12.0 software. Sources of heterogeneity were analyzed by subgroup analysis.Results:Eleven case-control studies involving 3740 subjects (1362 venous thrombosis patients and 2378 healthy controls) were included. The TFPI rs8176592 polymorphism was associated with increased risk of venous thrombosis in the whole population, while no significant association was found between rs10931292/rs10153820 and venous thrombosis. In subgroup analysis based on ethnicity, an increased risk was observed with rs8176592 polymorphism in Asians (Recessive model, OR = 1.48, 95% CI = 1.06–2.07, P = .023). An increased risk associated with rs10931292 was identified in non-Asians (Recessive model, OR = 1.42, 95% CI = 1.03–1.97, P = .033). No significant association was found in either Asians or non-Asians with the rs10153820 polymorphism. In subgroup analysis based on source of controls, increased risks were identified in the hospital-based group with rs8176592 polymorphism and in the population-based group with rs10931292 polymorphism, whereas decreased risk was identified in the hospital-based group with the rs10931292 and rs10153820 polymorphisms.Conclusion:Meta-analysis suggested that different TFPI polymorphisms may have different associations with venous thrombosis. TFPI rs8176592 polymorphism may increase the risk of venous thrombosis, especially in Asians and hospital-based patients. The TFPI rs10931292 polymorphism may increase the venous thrombosis risk for both non-Asians and population-based patients. Moreover, rs10931292 and rs10153820 polymorphisms of TFPI may decrease the risk of venous thrombosis for hospital-based patients.

Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Male Infertility in Asian Population.

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme of folate pathway and required for DNA synthesis and methylation. MTHFE C677T polymorphisms is reported as risk factors for various diseases and disorders like birth defects, metabolic, neurological, psychiatric disorders, and cancers. Several studies have investigated association between the MTHFR C677T polymorphism and male infertility. To assess the risk associated with MTHFR C677T polymorphism in Asian population, a meta-analysis was performed. Included articles were collected from the following electronic databases: PubMed, Google Scholar, and Science direct up to March 2015. Risk was estimated as pooled odds ratios (ORs) with confidence intervals (CIs) for assessment. Seventeen case-control studies involving 4392 breast infertile males and 3667 fertile males were found suitable for the inclusion in the present meta-analysis. Results showed that the C677T polymorphism was significantly associated with male infertility in Asian population using all the five genetic models (ORT vs. C (allele contrast model)=1.86, 95% CI 1.7-2.0; ORTT vs. CC (homozygote model)=1.96, 95% CI 1.67-2.30; ORCT vs. CC (co-dominant model)=1.40, 95% CI 1.18-1.62; ORTT+CT vs. CC (dominant model)=1.53, 95% CI 1.30-1.77; ORTT vs. CT+CC (recessive model)=1.67, 95% CI 1.44-1.92). In conclusion, results of present meta-analysis strongly supported an association between C677T polymorphism and male infertility in Asians.

The cytochrome P4501A1 gene polymorphisms and endometriosis: a meta-analysis.

Cytochrome P450 1A1 (CYP1A1) polymorphisms were implicated in endometriosis risk, but individual published studies showed inconclusive results. Thus, a meta-analysis was performed to clarify the effect of CYP1A1 polymorphisms on endometriosis risk. PubMed, Embase, and CNKI databases were searched to identify the eligible studies focusing on the associations between CYP1A1 MspI and Ile462Val polymorphisms and susceptibility to endometriosis. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) for CYP1A1 polymorphisms and endometriosis were calculated. Pooled analysis of 12 studies involved a total of 1555 cases and 2868 controls showed that in all genetic models, no significant association between CYP1A1 MspI polymorphism and endometriosis risk was observed in the overall, Asians and Caucasians population, respectively. Interestingly, increased endometriosis risk was associated with carrying the C allele of CYP1A1 combined with GSTM1 null genotypes. For CYP1A1 Ile462Val polymorphism, eight studies were available (878 cases and 1991 controls). In the overall analysis, CYP1A1 Ile462Val polymorphism had a statistically significant association with increased endometriosis risk in allele contrast and all genetic models except the model of Val/Ile vs. Ile/Ile. In the subgroup analysis by ethnicity, significant elevated endometriosis risk was associated with CYP1A1 Ile462Val polymorphism in Asians but not in Caucasians under all genetic models. No publication bias was found in the present studies. This meta-analysis suggested that CYP1A1 Ile462Val polymorphism was associated with an increased risk of endometriosis, particularly in Asians. CYP1A1 MspI polymorphism may not be associated with endometriosis risk, but GSTM1 and CYP1A1 MspI polymorphism may have a joint effect on endometriosis risk.

IL-1β + 3953C/T, − 511T/C and IL-6 −174C/G polymorphisms in association with tuberculosis susceptibility: A meta-analysis

BackgroundStudies of the association between the interleukin-1β gene (IL-1β) (+3953C/T, −511T/C) and interleukin-6 gene (IL-6) (−174G/C) polymorphisms and susceptibility to tuberculosis (TB) have yielded inconsistent results. The aim of this study was to investigate the relationship between these polymorphisms and TB risk by this meta-analysis. MethodsWe systematically searched published literatures on IL-1β gene and IL-6 gene polymorphisms and tuberculosis risk by the PubMed, Medline, Embase, Web of Science, Elsevier Science Direct and Cochrane Library databases, and identified outcome data from all articles. Statistical analysis was performed using Stata 12.0. A total of 15 studies comprising 3983TB patients and 3996 controls were included in the present study. ResultsWe found that the IL-6 −174C/G polymorphism might be associated with decreased risk of TB (C vs. G: OR=0.77, 95% CI=0.64–0.91; CG vs. GG: OR=0.72, 95% CI=0.57–0.90; CC+CG vs. GG: OR=0.71, 95% CI=0.57–0.88). In the stratified analysis by ethnicity, significantly decreased risk were observed for IL-1β −511T/C polymorphism in Africans (C allele vs. T allele: OR=0.86, 95% CI=0.74–0.99; CC vs. TT: OR=0.74, 95% CI=0.55–0.99). Moreover, the IL-6 −174 C/G polymorphism was also associated with decreased risk of TB in Asians (C vs. G: OR=0.71, 95% CI=0.54–0.93; CG vs. GG: OR=0.61, 95% CI=0.44–0.85; CC+CG vs. GG: OR=0.63, 95% CI=0.46–0.86). We also performed the analyses by sample types in IL-6 −174 C/G polymorphism, and significant decreased TB risk was observed in pulmonary tuberculosis group (C allele vs. G allele: OR=0.69, 95% CI=0.52–0.93; CG vs. GG: OR=0.69, 95% CI=0.52–0.91; CC+CG vs. GG: OR=0.71, 95% CI=0.55–0.93), and pulmonary tuberculosis plus extra-pulmonary tuberculosis mixed group (CC vs. GG: OR=0.44, 95% CI=0.22–0.88; CC vs. CG+GG: OR=0.48, 95% CI=0.25–0.94). ConclusionsThis meta-analysis indicates that the IL-1β −511T/C polymorphism is associated with TB decreased risk in Africans, and IL-6 −174C/G polymorphism in Asians. Further well-designed, large scale studies are required to confirm this conclusion.

Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies.

Current data regarding association between ERCC1 polymorphisms and the risk of head and neck squamous cell carcinomas (HNSCC) have shown controversial results. The current study aims to achieve a more accurate estimation of the association between two well-characterized ERCC1 polymorphisms (rs3212986 and rs11615) and HNSCC risk by a meta-analysis of all eligible studies. The meta-analysis was performed by reviewing seven studies on the ERCC1 C8092A (rs3212986) polymorphism including 2055 cases and 2635 controls and four studies on the T19007C (rs11615) polymorphism including 910 cases and 1337 controls. For ERCC1 rs3212986 polymorphism, no significant association with HNSCC was found in overall analysis, but subgroup analysis revealed that a significant association of the rs3212986 polymorphism was found among Asians (A vs. C: OR 0.83; 95% CI 0.70-0.99) but not Caucasians. For ERCC1 rs11615 polymorphism, a significant association with HNSCC (TC + CC vs. TT: OR 1.23; 95% CI 1.03-1.47) was found in overall analysis. Consistently, subgroup analysis revealed that significant associations of the rs3212986 polymorphism were found among Asians (C vs. T: OR 1.32; 95% CI 1.04-1.69) and in laryngeal carcinoma (CC vs. TC + TT: OR 1.32; 95% CI 1.02-1.72). The findings of the meta-analysis indicated that a decreased risk for the ERCC1 rs3212986 polymorphism was found among Asians, and an increased risk for the ERCC1 rs11615 polymorphism was found in overall HNSCC, especially in Asian subgroup and laryngeal site, suggesting that ERCC1 rs3212986 polymorphism in Asians may act as a protective factor and rs11615 polymorphism may be a risk factor for HNSCC.

IL-10Polymorphisms and Tuberculosis Susceptibility: An Updated Meta-Analysis

PurposeThe association of interleukin-10 (IL-10) polymorphisms (-1082G/A, -819C/T, -592A/C) and interleukin-6 (IL-6) poly-morphisms (-174G/C) with tuberculosis (TB) risk has been widely reported. However, the results are controversial. To clarify the role of these polymorphisms in TB, we performed a meta-analysis of all available and relevant published studies.Materials and MethodsBased on comprehensive searches of the PubMed, Medline, Embase, Web of Science, Elsevier Science Direct and Cochrane Library database, we identified outcome data from all articles estimating the association between IL-10 and IL-6 polymorphisms and TB risk.ResultsThe results indicated significant association of the allele model, heterozygous model and dominant model of IL-6 -174G/C polymorphism with decreased risk of TB. In the stratified analysis by ethnicity, significantly increased risk was observed for IL-10 -1082G/A polymorphism in Europeans under recessive model, for IL-10 -819C/T polymorphism in Asians under heterozygous model and dominant model and IL-10 -592A/C polymorphism in Asians under Allele model, homozygous model and recessive model. Moreover, significantly decreased risk of TB was associated with Asians for IL-6 -174C/G polymorphism in allele model, heterozygous model and dominant model. We also performed the analyses by sample types in IL-10 -1082G/A polymorphism, and observed significantly increased TB risk in mixed group under homozygous model.ConclusionThe results suggested that the IL-10 -1082G/A polymorphism is associated with increased TB risk in Europeans, while IL-10 -819C/T and IL-10 -592A/C polymorphisms in Asians. However, IL-6 -174G/C polymorphism might be a genetic risk factor that decreases TB susceptibility in Asians.

Association of Genetic Polymorphisms in UDP-Glucuronosyltransferases 2B17 with the Risk of Pancreatic Cancer in Chinese Han Population.

This study is aimed to investigate the association between polymorphisms in UGT2B17 and the risk of developing pancreatic cancer in Chinese Han population. A hospital-based case-control study was conducted, and 1579 healthy controls and 406 pancreatic cancer patients were enrolled. Real-time PCR was applied to identify the genetic polymorphisms in the subjects, and multivariable logistic regression analysis was performed to investigate the association between UGT2B17 polymorphisms and susceptibility to pancreatic cancer. The prevalence of the UGT2B17 del/del, del/ins, and ins/ins in cases were 72.9%, 24.0%, and 3.1%, respectively, and in controls 66.6%, 30.7%, and 2.7%, respectively. Multivariable logistic regression revealed that, compared with the del/del genotype, the del/ins genotype in UGT2B17 is related to a significant reduction in pancreatic cancer risk (OR = 0.77, 95% CI = 0.60 - 0.99; P = 0.04). In the female subjects, compared with the del/del genotype, the del/ins genotype was related to a substantial reduction in pancreatic cancer risk (OR = 0.59, 95% CI = 0.39 - 0.90, P = 0.01). All these results indicate a higher ratio of UGT2B17 deletion polymorphisms in Asians. UGT2B17 deletion polymorphisms are associated with the risk of developing pancreatic cancer in Chinese Han population, especially in the female population.

Association between CYP1A2 and CYP1B1 polymorphisms and colorectal cancer risk: a meta-analysis.

BackgroundThe previous published data on the association between CYP1A2*F (rs762551), CYP1B1 Leu432Val (rs1056836), Asn453Ser (rs180040), and Arg48Gly (rs10012) polymorphisms and colorectal cancer risk remained controversial.Methodology/Principal FindingsThe purpose of this study is to evaluate the role of CYP1A2*F, CYP1B1 Leu432Val, Asn453Ser, and Arg48Gly genotypes in colorectal cancer susceptibility. We performed a meta-analysis on all the eligible studies that provided 5,817 cases and 6,544 controls for CYP1A2*F (from 13 studies), 9219 cases and 10406 controls for CYP1B1 Leu432Val (from 12 studies), 6840 cases and 7761 controls for CYP1B1 Asn453Ser (from 8 studies), and 4302 cases and 4791 controls for CYP1B1Arg48Gly (from 6 studies). Overall, no significant association was found between CYP1A2*F, CYP1B1 Leu432Val, Asn453Ser, and Arg48Gly and colorectal cancer risk when all the eligible studies were pooled into the meta-analysis. And in the subgroup by ethnicity and source of controls, no evidence of significant association was observed in any subgroup analysis.Conclusions/SignificanceIn summary, this meta-analysis indicates that CYP1A2*F, CYP1B1 Leu432Val, Asn453Ser, and Arg48Gly polymorphisms do not support an association with colorectal cancer, and further studies are needed to investigate the association. In addition, our work also points out the importance of new studies for CYP1A2*F polymorphism in Asians, because high heterogeneity was found (dominant model: I 2 = 81.3%; heterozygote model: I 2 = 79.0).

Associations between TNF-α-308A/G polymorphism and susceptibility with dermatomyositis: a meta-analysis.

BackgroundSome surveys had inspected the effects of the tumor necrosis factor-α (TNF-α)-308A/G polymorphism on susceptibility to dermatomyositis (DM), and showed mixed results. To briefly review these consequences, a comprehensive meta-analysis was carried out to estimate the relationship between them much more accurately.MethodsRelevant documents dated to February 2014 were acquired from the PUBMED, MEDLINE, and EMBASE databases. The number of the genotypes and/or alleles for the TNF-α-308A/G in the DM and control subjects was extracted and statistical analysis was conducted using STATA 11.2 software. Summary odds ratios (ORs) with their 95% confidence intervals (95% CIs) were used to calculate the risk of DM with TNF-α-308A/G. Stratified analysis based on ethnicity and control population source was also performed.Results555 patients with DM and 1005 controls from eight published investigations were finally involved in this meta-analysis. Combined analysis revealed that the overall ORs for the TNF-α-308A allele were 2.041 (95% CIs 1.528–2.725, P<0.0001) in DM. Stratification by ethnicity indicated the TNF-α-308A allele polymorphism was found to be significantly associated with DM in Europeans (OR = 1.977, 95% CI 1.413–2.765, P<0.0001). The only study conducted on TNF-α-308A/G polymorphism in Asians could not be used in ethnicity-stratified meta-analysis. Meta-analysis of the AA+AG vs. GG (dominant model) and AA vs. GG (additive model) of this polymorphism revealed a significant association with DM in overall populations and Europeans.ConclusionsOur meta-analysis demonstrated that the TNF-α-308A/G polymorphism in the TNF gene might contribute to DM susceptibility, especially in European population. However, further studies with large sample sizes and among different ethnicity populations should be required to verify the association.

Meta-analysis of genetic polymorphisms in programmed cell death 1. Associations with rheumatoid arthritis, ankylosing spondylitis, and type 1 diabetes susceptibility.

The aim of this study was to determine whether genetic polymorphisms in programmed cell death1 (PDCD1 or PD1) are associated with susceptibility to rheumatoid arthritis (RA), ankylosing spondylitis (AS), and type1 diabetes (T1D). We conducted a meta-analysis to investigate the association between PDCD1 polymorphisms and RA, AS, and T1D in the overall population and in specific ethnic populations. Sixteen studies, comprising 13,210patients and 17,073controls, were conducted for the meta-analysis including 4studies on RA, 4 on AS, and 8 on T1D. The meta-analysis showed an association between RA and the 2alleles of the PD1.3 polymorphism in the overall population [odds ratio (OR) 1.183, 95 % confidence interval (95 % CI) 1.005-1.392, p = 0.043]. However, meta-analysis showed no association between RA and the 2alleles of the PD1.1 and PD1.5 polymorphisms in the overall population. Meta-analysis identified an association between AS and the 2alleles of the PD1.5 and PD1.9 polymorphisms in the Asian population (OR 1.251, 95 %CI 1.019-1.535, p = 0.033; OR 1.975, 95 %CI 1.286-3.034, p = 0.002, respectively). The meta-analysis revealed a significant association between T1D and the 2alleles of the PD1.3 polymorphism in the European population (OR 1.098, 95 %CI 1.029-1.171, p = 0.005). The meta-analysis showed an association between the PD1.5 polymorphism and T1D in Asians (OR 1.332, 95 %CI 1.067-1.663, p = 0.011) and between the PD1.9 polymorphism and T1D in the Asian population (OR 1.363, 95 % CI 1.107-1.679, p = 0.004). The meta-analysis suggests an association between the PD1.3 polymorphism and RA in the overall population and an association between the PD1.5 and PD1.9 polymorphisms, and AS in the Asian population. Furthermore, the PD1.3 , 5, and 9 polymorphisms were associated with T1D susceptibility in Europeans, or Asians.