Evaluation of the MTHFR C677T Polymorphism as a Risk Factor for Colorectal Cancer in Asian Populations

2020

Egypt J Med Hum Genet

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Background: Osteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated VDR gene polymorphisms as osteoporosis risk in different ethnic groups. In present meta-analysis, the aim is to find out the role of VDR gene polymorphisms (FokI, BsmI, ApaI, and TaqI) in osteoporosis risk. Methods: Suitable case-control studies for present meta-analysis were retrieved from four electronic databases. Open Meta-Analyst program was used for statistical analyses. Results: Studies investigated BsmI (65 studies; 6880 cases/8049 controls), ApaI (31 studies; 3763 cases/3934 controls), FokI (18 studies; 1895 cases/1722 controls), and TaqI (26 studies; 2458 cases/2895 controls) polymorphisms that were included in the present meta-analysis. A significant association was found between the dominant model of FokI (OR ff + Ffvs.FF = 1.19, 95% CI = 1.04-1.36, p = 0.01, I 2 = 39.36%) in the overall analysis and recessive model of the Caucasian population of TaqI polymorphism (OR TT + Ttvs.tt = 1.35, 95% CI = 1.11-1.63, p = 0.002, I 2 = 50.07%) with osteoporosis. On the other hand, no such effect is found in any other genetic models and in any other gene polymorphisms of the overall analyses or subgroup analyses. Conclusion: In conclusion, the authors found that the dominant model of FokI in the overall analysis and recessive model of TaqI in the Caucasian population are significantly associated with the development of osteoporosis.

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysis

Yadav

2020

Egypt J Med Hum Genet

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“…Possible explanation for the lack of association between the Val66Met (rs6265) polymorphism and BPD in present metaanalysis may be due to (i) small sample size in included genetic association studies, (ii) different clinical criteria for selecting BPD patients and (iii) BDNF factor level decreases in subtype BPD II but not in BPD I. Meta-analysis is an acceptable powerful statistical tool which is used effectively to combine data from several similar case control studies to obtain reliable results. During past two decades, numerous meta-analysis were published which evaluated genetic polymorphism as risk factor for different diseases and disorders-likeschizophrenia , depression (Rai,2014), autism Rai and Kumar,2018), Glucose 6-phosphate deficiency , hyperuricemia , cleft lip and palate (Rai,2014(Rai, ,2017, male infertility (Rai and Kumar,2017), Down syndrome (Rai,2011;Rai and Kumar,2018), epilepsy , Uterine Leiomyoma , recurrent pregnancy loss , breast cancer (Rai,2014;, digestive tract cancer (Yadav et al,2018), colorectal cancer (Rai, 2015), esophageal cancer (Kumar and Rai,2018), ovary cancer (Rai,2016), and prostate cancer and endometrial cancer (Kumar and Rai,2018) etc. Despite the clear strengths of present meta-analysis, including relatively large sample sizes and lack of publication bias, the interpretation of results should be done in light of few limitations like-(i) crude ORs without adjustment was used as association measure, adjusted analysis could not be done due to lack of sufficient raw data about related risk factors like substance abuse, alcohol intake etc., (ii) significant heterogeneity was observed in overall metaanalysis,(iii) single gene polymorphism was considered, and (iv) gene-environment interactions were not considered.…”

Section: Discussionmentioning

confidence: 99%

Brain derived neurotrophic factor (BDNF) Val66Met polymorphism is not risk factor for bipolar disorder

Jamal

2019

Preprint

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Bipolar disorder (BPD) is a psychiatric disease, characterized by the cycles of mania and depression. Several genetic studies investigated BDNF gene Val66Met polymorphism as risk factor for BPD, but results were inconclusive. Therefore, present meta-analysis was performed to reevaluate the BDNF Val66Met polymorphism and BPD association. Four databases (Pubmed, Springer Link, Science Direct and Google Scholar) were searched for eligible studies up to March 31,2018. Pooled odds ratios (OR) with 95% confidence intervals (CI) were calculated to estimate the strength of the association. All statistical analyses were done by MetaAnalyst and Mix program. Forty studies with a total of 28,787 subjects (10,085 cases and 18,702 controls) were included in this meta-analysis. Overall, pooled analysis indicated that there was no significant association between BDNF Val66Met polymorphism and BPD risk under all five genetic models (OR A vs.G =0.99, 95%CI= 0.94-1.03, p=0.49; OR AG vs. GG = 0.1.02, 95%CI= 0.95-1.07, p= 0.57; OR AA vs. GG = 0.98, 95%CI=0.89-1.08, p=0.75; OR AA+AG vs. GG = 1.0, 95%CI= 0.94-1.06, p= 0.89;OR AA vs. AG+GG = 0.96, 95%CI= 0.89-1.05, p= 0.47). Similarly, no significant association was observed in ethnicity based subgroup analysis in both Asian and Caucasian population. However, significant association was found in subtype analysis between BDNF Val66Met and BPDII (OR AA+AG vs. GG = 1.21, 95%CI= 1.06-1.37, p= 0.003) but not with BPDI. These findings suggested that the BDNF Val66Met polymorphism confer no genetic susceptibility to BPD I but risk for BPDII.

“…During past two decades, a number of meta-analyses were published which assessed the polymorphism of small effect genes as risk factor for different diseases and disorders e.g. Down syndrome [16], neural tube defects [104], Glucose 6phosphate dehydrogenase deficiency [105], depression [106], schizophrenia [107], Alzheimer [108], breast cancer [109], colorectal cancer [110], esophageal cancer [111] and prostate cancer [112] etc. During literature search we identified seven meta-analyses [15,[113][114][115][116][117][118] investigating the relationship VDR gene polymorphism and osteoporosis.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D receptor (VDR) gene FokI, BsmI, ApaI and TaqI polymorphisms and osteoporosis risk: a meta-analysis

Yadav

2019

Preprint

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Osteoporosis is a bone disease characterized by low bone density. The prevalence of osteoporosis varies between different populations and ethnic groups. Numerous studies have investigated the relationship between VDR gene polymorphisms and osteoporosis across ethnic populations. Present meta-analysis aims to comprehensively evaluate the influence of common FokI, BsmI, ApaI and TaqI VDR gene polymorphisms and osteoporosis. PubMed, Google Scholar, Springer Link and Elsevier databases were searched for eligible studies and all statistical calculations were performed by Open Meta-Analyst software. Studies investigated BsmI (65 studies; 6,880 case/ 8,049 control), ApaI (31 studies; 3,763 case/ 3,934 control), FokI (18 studies; 1,895 case/ 1,722 control), and TaqI (26 studies; 2,458 case/ 2,895 control) polymorphisms were included in the present meta-analysis. Results of meta-analysis revealed significant association between dominant model of FokI (OR ff+Ff vs. FF = 1.19, 95% CI= 1.04-1.36, p= 0.01, I 2 = 39.36%) in overall analysis and recessive model of Caucasian population of TaqI polymorphism (OR TT+Tt vs. tt = 1.35, 95% CI= 1.11-1.63, p= 0.002, I 2 = 50.07%). While no such effect is found in any other genetic model in any other gene polymorphisms of the overall analyses or sub-group analyses. In conclusion, we found the FokI polymorphism is associated with osteoporosis in overall analysis, also the TaqI polymorphism is a risk factor for the Caucasian population.