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1.
Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.
Atmoko, W, Raharja, PAR, Birowo, P, Hamid, ARAH, Taher, A, Rasyid, N
PloS one. 2021;(5):e0251235
Abstract
Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.
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2.
Are the FTO Gene Polymorphisms Associated with Colorectal Cancer? A Meta-analysis.
Gholamalizadeh, M, Tabrizi, R, Bourbour, F, Rezaei, S, Pourtaheri, A, Badeli, M, Jarrahi, SAM, Akbari, ME, Kalantari, N, Doaei, S
Journal of gastrointestinal cancer. 2021;(3):846-853
Abstract
BACKGROUND Colorectal cancer (CRC) is reported to be associated with some gene polymorphisms. However, the effect of the fat mass and obesity associated (FTO) gene on colorectal cancer is not yet clear. This meta-analysis aimed to investigate the association of the FTO gene polymorphism and colorectal cancer. METHODS PubMed, Web of science, Scopus, and Embase were explored to identify the studies investigating the relationship between rs9939609 and rs17817449 polymorphisms of FTO gene and colorectal cancer, and the published papers from 2000 to 2019 were collected. This meta-analysis was conducted by using a random-effects model for the best estimation of the desired outcomes. RESULTS In this study, 1528 studies were initially included and five eligible case-control studies including 13,460 cases and 22,578 controls were eligible for further analyses. No significant association was found between risk allele of FTO rs9939609 (OR = 0.98, 0.87-1.1) and rs17817449 (OR = 0.9, 0.79-1.03) polymorphisms and colorectal cancer risk. The subgroup analyses considering the source of the control group and race found no significant association between FTO polymorphisms and the risk of colon cancer. CONCLUSIONS This study indicated that rs9939609 and rs17817449 FTO gene polymorphisms are not associated with colorectal cancer risk. Individual studies involving different FTO polymorphisms are needed to further evaluation of the associations between the FTO gene and colon cancer.
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ATP2B1 gene polymorphisms rs2681472 and rs17249754 are associated with susceptibility to hypertension and blood pressure levels: A systematic review and meta-analysis.
Xie, M, Yuan, S, Zeng, Y, Zheng, C, Yang, Y, Dong, Y, He, Q
Medicine. 2021;(15):e25530
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Abstract
OBJECTIVE The present study aimed to conduct a systematic review and meta-analysis to evaluate the relationships between ATP2B1 gene polymorphisms with blood pressure (BP) level and susceptibility to hypertension. METHODS PubMed, Web of Science, Embase and China National Knowledge Infrastructure (CNKI) Databases were systematically searched by 2 independent researchers to screen studies on ATP2B1 gene polymorphisms and BP related phenotypes. The records retrieval period was limited from the formation of the database to March 4, 2021. Pooled odds rations (ORs) or β and their 95% confidence intervals (95%CI) were calculated to assess the association between ATP2B1 gene polymorphisms and the risk of hypertension or BP levels. Publication bias and sensitivity analysis were conducted to find potential bias. All the statistical analysis were conducted with Stata version 11.0 software. RESULTS A total of 15 articles were ultimately included in the present study, including 15 polymorphisms of ATP2B1 gene. Nine articles (N = 65,362) reported the polymorphism rs17249754, and 7 articles(N = 91,997) reported rs2681472 (both loci were reported in 1 article). Meta-analysis showed that rs17249754 (G/A) and rs2681472 (A/G) were associated with the susceptibility to hypertension (rs17249754: OR = 1.19, 95%CI: 1.10-1.28; rs2681472: OR = 1.15, 95%CI: 1.12-1.17), and were positively associated with systolic BP (SBP) and diastolic blood pressure (DBP) (rs17249754: SBP, β=1.01, 95%CI: 0.86-1.16, DBP, β=0.48, 95%CI: 0.30-0.66; rs2681472: SBP, β=0.92, 95%CI: 0.77-1.07, DBP, β=0.50, 95%CI: 0.42-0.58) in the additive genetic model. Subgroup analysis stratified by race, population, sample size, and BP measurement method revealed that the association between A allele in rs2681472 polymorphism and risk of hypertension was slightly stronger in European (EUR) populations (OR = 1.16, 95%CI: 1.13-1.20) than in East Asians (OR = 1.14, 95%CI: 1.10-1.17). While in East Asians, relation between rs17249754 with risk of hypertension (OR = 1.19, 95%CI: 1.10-1.28) is stronger than rs2681472 (OR = 1.14, 95%CI: 1.10-1.17). CONCLUSIONS Our study demonstrated that ATP2B1 gene polymorphism rs2681472 and rs17249754 were associated with BP levels and the susceptibility to hypertension.
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Associations between vitamin D receptor gene polymorphisms and spinal degenerative disease: evidence from a meta-analysis based on 35 case-control studies.
Gao, S, Xun, C, Xu, T, Cao, R, Zhang, J, Liang, W, Sheng, W
Clinical neurology and neurosurgery. 2021;:106325
Abstract
OBJECTIVE Dozens of reports on the associations of vitamin D receptor (VDR) gene polymorphisms and susceptibility to spinal degenerative disease (SDD) were conducted with inconsistent findings. This study aimed to elucidate the associations through a meta-analysis approach. METHODS Databases of PubMed, EMBASE, Web of Science, CNKI, and Wanfang were searched until July 10, 2020. Study quality was evaluated by using Newcastle-Ottawa Scale (NOS). Odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated to evaluate the associations under allelic model (1 vs. 2), homozygous model (11 vs. 22), heterozygous model (12 vs. 22), dominant model (11 + 12 vs. 22), and recessive model (11 vs. 12 + 22). RESULTS A total of 5021 cases and 5746 controls from 35 studies were eligible to this meta-analysis. According to NOS, the included studies were in excellent quality. In the overall population, the pooled data indicated that ApaI was associated with a reduced SDD susceptibility (AA vs. Aa + aa, OR = 0.83, 95%CI 0.71 - 0.96, P = 0.010). But the association was not observed in FokI, TaqI, and BsmI polymorphisms. Subgroup analysis suggested that TaqI polymorphism was correlated to an elevated SDD risk in Asians (TT + Tt vs. tt, OR = 2.55, 95%CI 1.90 - 3.44, P < 0.001). CONCLUSION The present study indicates that ApaI polymorphism may contribute to a reduced risk to SDD in the overall population, and TaqI polymorphism confers an elevated susceptibility to SDD in Asians. While, BsmI and FokI polymorphisms appear to have no significant association with SDD.
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5.
Investigations of Associations between Seven Gene Polymorphisms and Gestational Diabetes Mellitus: Evidence From a Meta-Analysis.
Wang, B, Xue, X
Gynecologic and obstetric investigation. 2020;(3):229-236
Abstract
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.
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Vitamin D receptor genetic polymorphisms and the risk of multiple sclerosis: A systematic review and meta-analysis.
Mohammadi, A, Azarnezhad, A, Khanbabaei, H, Izadpanah, E, Abdollahzadeh, R, Barreto, GE, Sahebkar, A
Steroids. 2020;:108615
Abstract
There are conflicting results regarding the exact effect of the vitamin D receptor (VDR) gene polymorphisms on the susceptibility to multiple sclerosis (MS). Therefore, we aimed to investigate the impact of four major studied VDR gene polymorphisms consisting of ApaI, BsmI, FokI, and TaqI on the risk of MS in the Iranian population. A literature search was performed in various databases to find case-control studies evaluating the association between VDR gene polymorphisms and MS risk in Iran. Data were extracted and odds ratios (OR) with 95% confidence intervals (CI) were calculated. Subgroup analyze was performed to detect potential sources of heterogeneity. A total of 1206 cases and 1402 controls in nine case-control studies were included. ApaI was the only variant which showed statistically significant relation in allelic (OR = 0.54 (95% CI: 0.37-0.79); P = 0.00), homozygote (OR = 3.48 (95% CI: 1.7-6.9); P = 0.00), dominant (OR = 0.56 (95% CI: 0.3-0.79); P = 0.01), and recessive (OR = 0.35 (95% CI: 0.18-0.66); P = 0.00) models. The TaqI polymorphism showed a significant negative association with MS only in the homozygote model (OR = 0.28 (95% CI: 0.08-0.9); P = 0.04). The BsmI polymorphism also showed significant relation in allelic (OR = 0.69 (95% CI: 0.51-0.94); P = 0.01), homozygote (OR = 0.46 (95% CI: 0.25-0.86); P = 0.01), and recessive OR = 0.56 (95% CI: 0.39-0.8); P = 0.00) models after performing sensitivity analysis. FokI polymorphism showed no significant association with MS risk. ApaI and TaqI TT genotype were found contributing to MS susceptibility and BsmI and FokI showed no relation with MS susceptibility in the Iranian population.
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Association of Vitamin D Receptor Gene Polymorphisms With Melanoma Risk: A Meta-analysis and Systematic Review.
Birke, M, Schöpe, J, Wagenpfeil, S, Vogt, T, Reichrath, J
Anticancer research. 2020;(2):583-595
Abstract
BACKGROUND/AIM: Increasing evidence indicates a relevance of the vitamin D endocrine system for pathogenesis of malignant melanoma. We performed a systematic review and meta-analysis to update previous reports that investigated the association between vitamin D receptor (VDR) gene polymorphisms and melanoma risk. MATERIALS AND METHODS A comprehensive literature search (PubMed, ISI Web of Science) identified a total of 14 studies that were eligible for inclusion in our meta-analysis. In the statistical analysis, the ORs and the 95% CIs were calculated for the dominant and recessive models for seven VDR gene polymorphisms, namely rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI), rs4516035 (A-1012G), rs11568820 (Cdx2), rs7975232 (ApaI) and rs739837 (BglI). Results were illustrated in Forest Plots. Publication bias was tested using Funnel Plots and the Egger's test. RESULTS Our meta-analysis showed in the dominant model (Bb + BB vs. bb) a significant association of a 15% risk reduction in malignant melanoma incidence for carriers of the rarer allele B of rs1544410 (Bsml). Notably, the dominant model (Ff + ff vs. FF) of rs2228570 (FokI) demonstrates that carriers of the rarer allele f are 22% more likely to develop malignant melanoma. For rs7975232 (ApaI), there is a 20% higher risk of melanoma for carriers of the rarer a allele (Aa + aa vs. AA). The results of the meta-analysis revealed no significant association between melanoma risk and the other investigated VDR polymorphisms. CONCLUSION The VDR variants FokI, ApaI and BsmI may influence the susceptibility to developing melanoma. These findings support the concept, that the vitamin D endocrine system is of importance for pathogenesis of malignant melanoma.
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Genetic polymorphisms associated with type 2 diabetes in the Arab world: A systematic review and meta-analysis.
Abuhendi, N, Qush, A, Naji, F, Abunada, H, Al Buainain, R, Shi, Z, Zayed, H
Diabetes research and clinical practice. 2019;:198-208
Abstract
AIMS: T2DM reach epidemic levels in the Arab countries. In this study, we aimed to perform a systematic review and meta-analysis to underline the susceptibility genetic profile of Arab patients with T2DM that result from SNPs. METHODS We searched four literature databases (PubMed, Scopus, Science Direct and Web of Science) through January 2019. We included all SNPs in candidate genes with an OR > 1 that were associated with T2DM among Arab patients with T2DM. Statistical programs such as software Review Manager (Version 5.02) and STATA (Version 15.1) were used. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated with a random effects model or a fixed effect model depending on the heterogeneity among studies. I2 statistics and Egger's tests were performed to assess heterogeneity and publication bias. RESULTS Out of 2245 studies, 47 were used for meta-analysis. We captured 31,307 cases and 26,464 controls in which we collected 71 SNPs in 32 genes. A pooled meta-analysis demonstrated 24-69% increase in T2DM risk. Among the 57 SNPs (in 32 genes) that were not included in the meta-analysis, the OR for diabetes ranged from 1.02 to 5.10, with a median of 1.38 (interquartile range 1.33-2.09). Ten studies examined the association between the TCF7L2 polymorphism rs7903146 and T2DM, leading to an aggregated OR of 1.34 (95%CI 1.27-1.41). CONCLUSION The genetic profile that confer susceptibility to T2DM in Arab patients is diverse. This study may serve as a platform for designing a gene panel for testing the susceptibility to T2DM.
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Klotho gene polymorphisms are associated with healthy aging and longevity: Evidence from a meta-analysis.
Zhu, Z, Xia, W, Cui, Y, Zeng, F, Li, Y, Yang, Z, Hequn, C
Mechanisms of ageing and development. 2019;:33-40
Abstract
Klotho gene polymorphisms have been implicated in healthy aging, but inconsistences in findings from previous case-control studies have raised concerns regarding the associations between KLOTHO gene polymorphisms and susceptibility to aging-related diseases and longevity. Hence, this meta-analysis was performed. We assessed the associations between two polymorphisms (G-395 A/rs1207568 and F352 V/rs9536314) and five parameters (urolithiasis, cognitive impairment, cardiovascular disease, cancer, and longevity) by calculating pooled odds ratios with 95% confidence intervals. According to the pooled results, the G allele of the G-395 A polymorphism conferred a significantly higher risk of urolithiasis; G-395 A was related to the susceptibility to cardiovascular disease under allele, dominant, and recessive models. There was no significant association between the G-395 A polymorphism and cognitive impairment among the elderly. The F allele of the F352 V polymorphism protected against breast and ovarian cancer susceptibility. Interestingly, based on the results of the subgroup analysis, the F352 V polymorphism was associated with the overall risk of neoplasms in BRCA1 mutation carriers but not in BRCA2 mutation carriers. Moreover, the F allele played a protective role in determining human longevity. In conclusion, Klotho G-395 A polymorphisms were associated with urolithiasis and cardiovascular disease but not with cognitive impairment. Additionally, Klotho F352 V polymorphisms were associated with cancers and longevity.
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Association between "solute carrier family 30 member 8" (SLC30A8) gene polymorphism and susceptibility to type 2 diabetes mellitus in Chinese Han and minority populations: an updated meta-analysis.
Wang, Y, Duan, L, Yu, S, Liu, X, Han, H, Wang, J, Li, W
Asia Pacific journal of clinical nutrition. 2018;(6):1374-1390
Abstract
BACKGROUND AND OBJECTIVES In China, some studies have been reported that solute carrier family 30 member 8 (SLC30A8) gene polymorphism might increase the risk of T2DM, but some are not. The aim of this meta-analysis was to systematically investigate the association between the rs13266634 polymorphism of the SLC30A8 gene and T2DM in Chinese Han and ethnic minority populations. METHODS AND STUDY DESIGN All published electronic articles were retrieved from Pubmed, Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI), Wanfang database, VIP database and Google scholar. Pooled OR and 95% CI were calculated using random- or fixed-effects models. RESULTS Twenty-five articles involving 62,285 subjects were included in this metaanalysis. Considering the total population, significant associations between the rs13266634 polymorphism and T2DM were observed under the allele model (C vs T: OR=1.23, 95% CI=1.18-1.29), the additive models ( CC vs TT: OR=1.44, 95% CI=1.32-1.56; CC vs CT: OR=1.08, 95% CI=1.02-1.15; CT vs TT: OR=1.25, 95% CI=1.15- 1.37), the dominant model (CC vs CT+TT: OR=1.24, 95% CI=1.17-1.32) and the recessive model (CC+CT vs TT: OR=1.26, 95% CI=1.16-1.35). Based on subgroup analysis, besides the CC vs CT model, these associations were stronger in the ethnic minority groups than in the Han population. Moreover, no association was observed under the CC vs CT model (OR=1.26, 95% CI=0.95-1.66, p=0.105) in ethnic minority groups. CONCLUSIONS Chinese C allele carriers could have an increased risk of T2DM. Well-designed future studies should be conducted with a larger sample size to better understand this association in ethnic minority groups.