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SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis.
- Source :
-
Bioscience reports [Biosci Rep] 2020 Mar 27; Vol. 40 (3). - Publication Year :
- 2020
-
Abstract
- Background: Prenatal intake of folic acid is important for prevention of NSCL/P (nonsyndromic cleft lip with or without cleft palate). Associated genes in folate pathway are major enzymes of folic acid metabolism that is crucial for preventing birth defects. The present meta-analysis aims to investigate the association between four SNPs in folate pathway genes and the risk of NSCL/P.<br />Methods: Comprehensive bioinformatics analysis was used to predict the functional pathogenicity of genetic variation. The PubMed, Embase database and Google Scholar were searched by two researchers. Stata 11.0 software was used to analyze the results. Subgroup analysis was carried out to assess the influence of genetic background. Sensitivity analysis, regression analysis and publication analysis were also conducted to enhance the strength of our results.<br />Results: It is estimated that the probability of two missense mutation rs1801133 in MTHFR and rs1801394 in MTRR are more likely to be damaging by bioinformatics analysis. A significant association between rs1801133 and risk of NSCL/P in two genetic models: TT genotype vs CC genotype (OR = 1.333 95%CI = 1.062-1.674, P = 0.013), and recessive model (OR = 1.325 95%CI = 1.075-1.634, P = 0.008). A significant protective association between rs1801394 GG genotype and NSCL/P in Asian (GG vs AA, OR = 0.520 95%CI = 0.321-0.841, P = 0.008) was observed. Meta-regression, sensitivity analysis, and publication bias analysis confirmed that the results of the present study were statistically significant.<br />Conclusions: The present study identified that rs1801133 in MTHFR is associated with the risk of NSCL/P, and rs1801394 GG genotype in MTRR play a protective role in Asian. Further, larger studies should be performed to confirm these findings.<br /> (© 2020 The Author(s).)
- Subjects :
- Asian People genetics
Brain metabolism
Case-Control Studies
China
Cleft Lip metabolism
Cleft Palate metabolism
Ferredoxin-NADP Reductase metabolism
Folic Acid genetics
Folic Acid metabolism
Gene Frequency genetics
Genetic Predisposition to Disease
Homocystinuria genetics
Humans
Methylenetetrahydrofolate Reductase (NADPH2) deficiency
Methylenetetrahydrofolate Reductase (NADPH2) metabolism
Muscle Spasticity genetics
Polymorphism, Single Nucleotide
Psychotic Disorders genetics
Risk Factors
Brain abnormalities
Cleft Lip genetics
Cleft Palate genetics
Ferredoxin-NADP Reductase genetics
Methylenetetrahydrofolate Reductase (NADPH2) genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-4935
- Volume :
- 40
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Bioscience reports
- Publication Type :
- Academic Journal
- Accession number :
- 32124929
- Full Text :
- https://doi.org/10.1042/BSR20194261