scholarly journals LOXL1 gene polymorphisms are associated with exfoliation syndrome/exfoliation glaucoma risk: An updated meta-analysis

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0250772
Author(s):  
Xiaoyan Li ◽  
Jie He ◽  
Jian Sun

Background Single nucleotide polymorphisms (SNPs) in the gene encoding LOXL1 are risk factors for exfoliation syndrome and exfoliation glaucoma. This meta-analysis comprehensively investigated the association between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and the risk of exfoliation syndrome/exfoliation glaucoma (XFS)/(XFG). Methods All eligible case-control studies, published before August 17, 2020, were searched on Medline (Ovid), PubMed, CNKI, EMBASE, and Wanfang databases. Results In total, 5022 cases and 8962 controls were included in this meta-analysis. Significant associations between LOXL1 gene polymorphisms and XFS/XFG risk was observed in the disease types-based subgroups. In addition, in the subgroup analysis of ethnicity, positive associations between LOXL1 gene polymorphisms (rs1048661, rs3825942, and rs2165241) and XFS/XFG risk were found in Caucasians. Furthermore, rs1048661 and rs3825942 polymorphisms were related to XFS/ XFG risk in Asians; however, no significant association was observed between the LOXL1 gene rs2165241 polymorphism and XFS/XFG risk in Asians. In addition, rs1048661 and rs3825942 correlated with XFS/XFG susceptibility in Africans. Conclusions Our results implicate LOXL1 gene polymorphisms as XFS/XFG risk factors, especially in Caucasians.

2021 ◽  
Author(s):  
Petros C. Dinas ◽  
Eleni Nintou ◽  
Maria Vliora ◽  
Anna E. Pravednikova ◽  
Paraskevi Sakellariou ◽  
...  

The contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested whether UCP1 SNPs A-3826G, A-1766G, Ala64Thr and A-112C are associated with the most common CMP (cardiovascular disease, hypertension, metabolic syndrome, and type-2 diabetes) and CMP risk factors. This case-control study included blood sample collection from 2,283 Caucasians (1,139 healthy; 1,144 CMP) across Armenia, Greece, Poland, Russia and United Kingdom for genotyping of the above-mentioned SNPs. We extended the results via a systematic review and meta-analysis, covering PubMed, Embase, and Cochrane Library databases. In Armenia the GA genotype and A allele of Ala64Thr were associated with ~2-fold higher risk for CMP compared to the GG genotype or G allele, respectively (p<0.05). In Greece, A allele of Ala64Thr SNP decreased the risk of CMP by 39%. Healthy individuals with A-3826G GG genotype and carriers of mutant allele of A-112C and Ala64Thr had higher body mass index compared to those carrying other genotypes. In healthy Polish, higher waist-to-hip ratio (WHR) was observed in heterozygotes A-3826G compared to AA homozygotes. Heterozygosity of the A-112C and Ala64Thr SNPs was related to lower WHR in CMP individuals compared to wild type homozygotes (p<0.05). Meta-analysis in case-control studies showed no statistically significant odds ratios in different alleles across the four studied SNPs (p>0.05). Thus, we conclude that the studied SNPs could be associated with the most common CMP and their risk factors in some populations.


2020 ◽  
Author(s):  
Qin Lei ◽  
Zhao Jiawen ◽  
Zhao Yutong ◽  
Ma Chenjun ◽  
Li Chaobin ◽  
...  

Abstract BACKGROUND: Rs4778889 T>C is one of the single nucleotide polymorphisms (SNPs) in interleukin-16 (IL-16). As a growth factor, IL-16 might play a significant impact on cancer formation. Several studies have investigated the relationship between IL-16 rs4778889 T>C gene polymorphisms and cancer risk, but the results are contradictory. We conducted a meta-analysis on the association between IL-16 rs4778889 T>C gene polymorphism and cancer risk. METHODS: Twelve case–control studies with 3066 cases and 4433 controls from Web of Science, PubMed, and Embase databases were included. The data was analyzed using the STATA software and the combined odds ratio (ORs) and the corresponding 95% confidence interval (CIs) were used to identify the correlation strength. RESULTS: Our results show that no significant associations were observed between the IL-16 rs4778889 T>C gene polymorphisms and cancer risk in all genetic models (C vs. T: OR=1.06, 95% CI: 0.90–1.26, Ph<0.001; CC vs. TT: OR=1.07, 95% CI: 0.71–1.62, Ph<0.001; CT vs. TT: OR=1.07, 95% CI: 0.91–1.26, Ph=0.002; CC+CT vs. TT: OR=1.08, 95% CI: 0.90–1.30, Ph<0.001; CC vs. CT+TT: OR=1.04, 95% CI: 0.73–1.50, Ph=0.001). Subgroup and sensitivity analyses also were performed. CONCLUSIONS: The results of this meta-analysis indicate that there are no significant associations between IL-16 rs4778889 T>C gene polymorphisms and cancer risk. To verify these results, further studies with larger sample size and multiracial populations are needful. Keywords: IL-16, polymorphisms, cancer, meta-analysis


2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Jing Wen ◽  
Zhi Lv ◽  
Hanxi Ding ◽  
Xinxin Fang ◽  
Mingjun Sun

Single nucleotide polymorphisms (SNPs) in miRNA biosynthesis genes DROSHA and DGCR8 were indicated to be correlated with cancer risk. We comprehensively reviewed and analyzed the effect of DROSHA and DGCR8 polymorphisms on cancer risk. Eligible articles were selected according to a series of inclusion and exclusion criteria. Consequently, ten case–control studies (from nine citations) with 4265 cancer cases and 4349 controls were involved in a meta-analysis of seven most prevalent SNPs (rs10719 T/C, rs6877842 G/C, rs2291109 A/T, rs642321 C/T, rs3757 G/A, rs417309 G/A, rs1640299 T/G). Our findings demonstrated that the rs417309 SNP in DGCR8 was significantly associated with an elevated risk of overall cancer in every genetic model. In stratified analysis, correlations of DROSHA rs10719 and rs6877842 SNPs were observed in Asian and laryngeal cancer subgroups, respectively. Moreover, associations of the rs417309 SNP could also be found in numerous subgroups including: Asian and Caucasian population subgroups; laryngeal and breast cancer subgroups; population-based (PB) and hospital-based (HB) subgroups. In conclusion, the DROSHA rs10719, rs6877842 SNPs, and DGCR8 rs417309 SNP play pivotal roles in cancerogenesis and may be potential biomarkers for cancer-forewarning.


Neurosurgery ◽  
2019 ◽  
Vol 66 (Supplement_1) ◽  
Author(s):  
Museung Park ◽  
Yong-Jun Cho ◽  
Jin Sue Jeon

Abstract INTRODUCTION Genome-wide association studies have revealed an association between SRY (Sex Determining Region Y)-box 17 (SOX17) gene and intracranial aneurysm (IA) formation. However, results were mainly derived from European and Japanese populations. We investigated the association between SOX17 gene polymorphisms and IA in a homogeneous Korean population. We performed a meta-analysis to assess these results in East-Asian populations. METHODS This cross-sectional study included 187 age- and sex-matched patients with IA and 372 control subjects. Genetic association analysis was performed in the generalized linear model to identify associations between 4 single nucleotide polymorphisms and IA, including 95 patients with ruptured aneurysms and 92 with unruptured aneurysms. The East-Asian meta-analysis of 5100 IA cases and 7930 control cases was conducted under an inverse variance model. RESULTS Among 4 single nucleotide polymorphisms that passed quality control tests, the minor C allele of rs1072737 was significantly associated with IA (odds ratio 0.69, 95% confidence interval 0.49-0.96, P = .03). None of the 4 single nucleotide polymorphisms showed a significant association between patients with ruptured and unruptured aneurysms. Meta-analysis revealed that G alleles of rs10958409 and rs9298506 were significantly associated with IA in the East-Asian population after removing study heterogeneity (odds ratio 1.11, 95% confidence interval 1.04-1.19, P = .0023 and odds ratio 1.19, 95% confidence interval 1.07-1.32, P = .0016). CONCLUSION Identification of genetic variants located near SOX17 is likely to be clinically significant for IA formation. rs10958409 and rs9298506 may increase risk of IA in East-Asian populations. Our findings may help in the identification of IA pathogenesis.


2018 ◽  
Vol 38 (4) ◽  
Author(s):  
Huanhuan Guo ◽  
Tao Peng ◽  
Ping Luo ◽  
Huabin Li ◽  
Shuo Huang ◽  
...  

Purpose: Accumulating evidence has shown that allergic diseases are caused by a complex interaction of genetic and environmental factors, some single nucleotide polymorphisms (SNPs) existing in high-affinity IgE receptor β chain (FcεRIβ) are potential risk factors for allergic diseases. However, the results have been inconsistent and inconclusive due to the limited statistical power in individual study. Thus, we conducted a meta-analysis to systematically evaluate the association between FcεRIβ SNPs and allergic diseases risk. Methods: Eligible studies were collected from PubMed, Embase, Web of Science, Chinese National Knowledge Infrastructure, and WanFang databases. Pooled odd ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were calculated to assess the strength of the relationships between five polymorphisms (E237G, -109 C/T, RsaI_in2, RsaI_ex7, and I181L) and the risk of allergic diseases by using five genetic models. In addition, the stability of our analysis was evaluated by publication bias, sensitivity, and heterogeneity analysis. Results: Overall, a total of 29 case–control studies were included in this meta-analysis. We found that E237G (B vs. A: OR = 1.28, 95% CI = 1.06–1.53, P<0.001, I2 = 63.1%) and -109 C/T (BB vs. AA + AB: OR = 1.58, 95%CI = 1.26–1.98, P<0.001, I2 = 66.4%) were risk factors for allergic diseases. Conclusion: Our meta-analysis suggests that polymorphisms in FcεRIβ may be associated with the development of allergic diseases.


2017 ◽  
Vol 37 (6) ◽  
Author(s):  
Yanke Li ◽  
Fuqiang Zhang ◽  
Dehua Yang

CTNNB1, encoding β-catenin, is a well-known tumor-related gene in the wnt signaling pathway. It has been reported that CTNNB1 polymorphisms are associated with cancer risk. However, the data were inconsistent. In this article, we conducted a systematic review for the researches related to the association of single nucleotide polymorphisms (SNPs) in CTNNB1 with overall cancer risk. Meanwhile, a series of inclusion and exclusion criteria were set to select articles for quantitative analysis. Consequently, eight case-control studies containing 4388 cases and 4477 controls were included in a meta-analysis of four highly studied CTNNB1 SNPs (rs1798802 A/G, rs4135385 A/G, rs11564475 A/G, and rs2293303 C/T). The association between each SNP and cancer risk was estimated by calculating odds ratios (ORs) and their 95% confidence intervals (95%CIs). The results showed rs1798802 (AA compared with GG: P=0.044, OR=0.72) and rs2293303 (TT compared with CC: P=0.002, OR=2.86; recessive model: P=0.006, OR=2.91; T compared with C: P=0.004, OR=1.19) polymorphisms were associated with overall cancer risk. In stratified analysis, rs4135385 polymorphism was found to elevate the risk in Caucasian or in gastrointestinal cancer subgroup. Additionally, rs2293303 conferred to an increased cancer risk when the source of control groups was hospital-based (HB). In conclusion, the three CTNNB1 SNPs were suggested to have the potential to be novel biomarkers for risk prediction of cancer in overall population or some specific subgroups. Our study could provide research clues for further related investigations.


2021 ◽  
Author(s):  
Yi Zhu ◽  
Ming Qiao

Abstract Background: Glutathione S-transferases (GSTs) genes single-nucleotide polymorphisms (SNPs) have been connected with the susceptibility of nonalcoholic fatty liver disease (NAFLD), but with inconsistent results across the current evidences. The present work was schemed to explore the association between GSTs genes polymorphisms and the NAFLD vulnerability via meta-analysis.Methods: PubMed, Web of Science, Cochrane Library, China National Knowledge Infrastructure (CNKI) and Wanfang were retrieved for eligible literatures previous to March 10, 2021. The odds ratio (OR) of the dichotomic variables and the standardized mean difference of quantitative variables with corresponding 95% confidence intervals (95%CIs) were computed to evaluate the strength of the associations. The quality of included studies were assessed via using Newcastle-Ottawa Scale (NOS).Results: In total, 7 case-control studies encompassing 804 NAFLD patients and 1362 disease-free controls in this meta-analysis. Ultimately, this analysis included six, five and five studies for GSTM1, GSTT1 and GSTP1 polymorphisms respectively. The pooled data revealed that the GSTs genes single-nucleotide polymorphisms had conspicuous associations with NAFLD susceptibility: for GSTM1, null vs. present, OR=1.46, 95%CI 1.20-1.79, P=0.0002; for GSTT1, null vs. present, OR=1.34, 95%CI 1.06-1.68, P=0.01; for GSTP1, Ile/Val or Val/Val vs. Ile/Ile, OR=1.60, 95%CI 1.23-2.09, P=0.0005.Conclusion: This work revealed that the GSTM1 null, GSTT1 null and GSTP1-Val genotypes might be related to increased NAFLD susceptibility.


2020 ◽  
Vol 40 (7) ◽  
Author(s):  
Haijun Yang ◽  
Lan Zheng ◽  
Yanmei Zhang ◽  
Min Yang ◽  
Sha Wei

Abstract Guo et al. (Bioscience Reports (2018) 38, BSR20180177) published a meta-analysis concerning the association between five single nucleotide polymorphisms (SNPs) in the high-affinity IgE receptor β chain (FcεRIβ) gene, namely E237G, -109 C/T, RsaI_in2, RsaI_ex7, and I181L, and risk of asthma and allergic rhinitis based on available 29 case–control studies. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of association of SNPs in FcεRIβ gene with allergic diseases risk. They found that FcεRIβ E237G (237G vs. 237E: OR = 1.28, 95% CI = 1.06–1.53) and −109 C/T (TT vs. CT+CC: OR = 1.58, 95% CI = 1.26–1.98) were risk factors for allergic diseases. Guo et al.’s findings are interesting, but we found that several issues should be clarified after carefully reading the paper. Here, we intended to comment on these data clarifications.


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