Maternal methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism and risk of nonsyndromic Cleft lip and/or Palate (NSCL/P) in offspring: A meta-analysis

2017

Ind J Clin Biochem

Self Cite

Methylenetetrahydrofolate reductase (MTHFR) is essential for DNA biosynthesis and the epigentic process of DNA methylation. It has been reported that abnormal DNA methylation contributes to the pathogenesis of congenital anomalies. There were many published case control studies assessing the associations of MTHFR C677T polymorphism with risks of nosyndromic cleft lip with and without palate (nsCL/P), but with inconsistent results. To derive a more precise estimation of the relationship, a meta-analysis was performed. Eligible articles were identified by search of databases including PubMed, Science Direct, Google Scholar and Springer Link up to December, 2015. Finally, a total of 22 studies with 3724 nsCL/P cases and 5275 controls were included in the present meta-analysis. Odds ratios (ORs) with corresponding 95% confidence intervals (95% CIs) were pooled to assess the association. Subgroup analysis based on ethnicity was also performed. All statistical analyses were done by MIX program. Meta-analysis results suggested that MTHFR C677T polymorphism contributed to the increased nsCL/P risk in overall population using four genetic models except homozygote model (for T vs. C: OR = 1.24, 95% CI = 1.1-1.4; for TT + CT vs. CC: OR = 1.29, 95% CI = 1.04-1.59; for CT vs. CC: OR = 1.26, 95% CI = 0.98-1.63; for TT vs. CC: OR = 1.02, 95% CI = 0.74-1.4; for TT vs. CT + CC: OR = 1.36, 95% CI = 1.05-1.74). In conclusion, results of present meta-analysis suggested that MTHFR C677T polymorphism is significantly associated with nonsyndromic orofacial cleft.

Section: Discussionmentioning

confidence: 99%

Strong Association of C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene With Nosyndromic Cleft Lip/Palate (nsCL/P)

2017

Ind J Clin Biochem

Self Cite

“…Meta-analysis is a statistical tool, which overcome deficiencies of small studies /small sample analysis by combining data from several small studies and increasing the statistical power (lower type II error rate) (Ioannidis et., 2003). Several meta-analysis are published, which evaluated effects of polymorphism in susceptibility of diseases/disorders-down syndrome (Rai, 2011; Rai et al, 2017; Rai and Kumar, 2018), cleft lip and palate (Rai, 2014, 2017), Glucose-6-phosphate dehydrogenase deficiency (Kumar et al, 2016), male infertility (Rai and Kumar, 2017), schizophrenia (Yadav et al, 2015; Rai et al, 2017), obsessive compulsive disorder (Kumar and Rai, 2019), depression (Rai, 2014,2017), epilepsy (Rai and Kumar, 2018), Alzheimers disease (Rai, 2016,2017), esophageal cancer (Kumar and Rai, 2018), prostate cancer (Yadav et al, 2016), breast cancer (Rai et al, 2017), digestive tract cancer (Yadav et al, 2018), ovary cancer (Rai, 2016), endometrial cancer (Kumar et al, 2018), uterine leiomyioma (Kumar and Rai, 2018), MTHFR gene frequency (Yadav et al, 2018), and MTRR gene frequency (Yadav et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Catechol-O-methyltransferase (COMT) Val158Met Polymorphism and susceptibility to alcohol dependence

Chaudhary

Kumar

2020

Preprint

Self Cite

Catechol-O-methyl transferase (COMT) enzyme catalyzes the metabolism of dopamine and other catechols in the brain. Several articles investigated catechol-O-methyltransferase (COMT) Val158Met polymorphism as risk factor for alcohol dependence (AD) but the results were inconclusive. The aim of present meta-analysis was to evaluate the association of Val158Met (COMT) polymorphism with AD. Authors performed keyword search of the four electronic databases- Pubmed, Google Scholar, Springer Link and Science Direct databases up to December 31,2019 . Total eighteen studies that investigated the association of Val158Met polymorphism with AD were retrieved. The pooled results from the meta-analysis (2,278 AD cases and 3717 healthy controls) did not show association with AD using all five genetic models (allele contrast model: OR = 1.02, 95% CI= 0.90-1.14, p= 0.03; homozygote model: OR = 1.06, 95% CI= 0.81-1.38, p= 0.69; dominant model: OR = 0.99, 95% CI= 0.85-1.14, p= 0.87; co-dominant model: OR = 0.97, 95% CI= 0.86-1.11, p= 0.71; recessive model: OR = 1.05;95% CI= 0.85-1.29, p=0.61). Results of subgroup analysis showed that Val158Met is not risk for AD in Asian and Caucasian population. In conclusion, COMT Val158Met is not a risk factor for alcohol dependence.

“…Meta-analysis is a statistical tool, which is successfully used for the compilation of contradictory results of small effect/power case-control studies. Several meta-analysis were published which evaluated risk of small effect gene polymorphism for different disease and disorders like-epilepsy [29], Alzheimer's disease [30], G6PD [31], Down syndrome [32][33][34], Uterine Leiomyoma [35], orofacial cleft [36,37], depression [38], schizophrenia [39,40], autism [41, , male infertility [42] digestive tract cancer [43], lung cancer [44], endometrial cancer [45], breast cancer [46,47], prostate cancer [48], colorectal cancer [49], and esophageal cancer [50] etc.…”

Section: Discussionmentioning

confidence: 99%

MTHFR gene A1298C polymorphism and Alzheimer’s disease susceptibility

2019

Preprint

Self Cite

Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme involved in homocysteine/methionone metabolism. It catalyzes the conversion of 5,10methlenetetrahydrofolate in to 5methyltetrahydrofolate. A number of studies have examined the association of MTHFR A1298C polymorphism as risk factor for Alzheimer's disease (AD), but the results were contradictory. To clarify the influence of MTHFR A1298C polymorphism on Alzheimer's disease (AD), a meta-analysis of ten case-control studies was carried out. Four electronic databases were searched up to August, 2019 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. All statistical analyses were performed by MetaAnalyst program. The results of meta-analysis suggested that except allele contrast model, A1298C polymorphism is not risk for Alzheimer's disease using overall comparisons in three genetic models (C vs. A: OR= 1.26, 95%CI= 0.912-1.76, p= 0.04; CC+AC vs. AA: OR= 1.43; 95%CI= 0.85-2.44; p=0.05; CC vs. AA: OR= 1.16, 95%CI= .88-1.55, p= 0.51; AC vs. AA: 1.55; 95%CI= 0.81-2.93,p=0.07). Publication bias was absent in all five genetic models. In conclusion, results of present meta-analysis showed no significant association between MTHFR A1298C polymorphism and AD risk.