SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis

التفاصيل البيبلوغرافية
العنوان: SNPs in folate pathway are associated with the risk of nonsyndromic cleft lip with or without cleft palate, a meta-analysis
المؤلفون: Tahir Zaib, Xueyuan Jia, Lidan Xu, Wenjing Sun, Qiuyan Li, Komal Saleem, Songbin Fu
المصدر: Bioscience Reports
بيانات النشر: Portland Press Ltd., 2020.
سنة النشر: 2020
مصطلحات موضوعية: 0301 basic medicine, Oncology, Folate, MTRR, Biochemistry, 0302 clinical medicine, Gene Frequency, Risk Factors, Genotype, Medicine, Research Articles, biology, Brain, Genomics, Cleft Palate, Ferredoxin-NADP Reductase, Muscle Spasticity, Meta-analysis, Homocystinuria, China, medicine.medical_specialty, Bioinformatics, Cleft Lip, Biophysics, SNP, Single-nucleotide polymorphism, Subgroup analysis, Polymorphism, Single Nucleotide, 03 medical and health sciences, Folic Acid, Asian People, Internal medicine, Genetic model, Humans, Genetic Predisposition to Disease, Molecular Biology, Methylenetetrahydrofolate Reductase (NADPH2), business.industry, 030206 dentistry, Cell Biology, Publication bias, 030104 developmental biology, Psychotic Disorders, Case-Control Studies, Methylenetetrahydrofolate reductase, Mutation, MTHFR, biology.protein, business
الوصف: 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. 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. 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. 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.
تدمد: 1573-4935
0144-8463
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cccd596b7847fb593f6162af243ddfad
https://doi.org/10.1042/bsr20194261
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....cccd596b7847fb593f6162af243ddfad
قاعدة البيانات: OpenAIRE