Association of methylenetetrahydrofolate reductase gene 677CT polymorphism and Down syndrome
| Autor: | Marcelo Aguiar Costa-Lima, Márcia R. Amorim, Iêda M. Orioli |
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| Rok vydání: | 2012 |
| Předmět: |
Male
medicine.medical_specialty Down syndrome Genotype Mothers Biology Gastroenterology Internal medicine Genetics medicine Odds Ratio Humans Genetic Predisposition to Disease Child Molecular Biology Alleles Methylenetetrahydrofolate Reductase (NADPH2) Polymorphism Genetic Heterozygote advantage General Medicine Fixed effects model medicine.disease Random effects model Meta-analysis Methylenetetrahydrofolate reductase Methylenetetrahydrofolate reductase gene biology.protein Female Down Syndrome |
| Zdroj: | Molecular biology reports. 40(3) |
| ISSN: | 1573-4978 |
| Popis: | The association between Down syndrome (DS) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. A meta-analysis was performed to evaluate the association of maternal MTHFR 677CT polymorphism and the risk of having a child with DS. Case-control studies were screened from major literature databases. Twenty articles from 13 countries worldwide, with a total of 2,101 DS and 2,702 control mothers, attended the inclusion criteria. We found a 50 % increase for the association of maternal homozygous TT genotype and DS in both fixed (OR = 1.51; 95 % CI 1.22-1.87) and random effects models (OR 1.54; 95 % 1.15-2.05). Similarly, a significant pooled OR was found for the heterozygote CT, with an OR 1.26; 95 % CI 1.10-1.43 (fixed effects model) and OR 1.28; 95 % 1.08-1.51 (random effects model). As ultra-violet B solar radiation highly depends on latitude, and can promote, in less pigmented skin, intravascular folate photolysis, we stratified the analysis by latitude region, defining as Tropical (between 23.5(°) S and 23.5(°) N), Sub-Tropical (between 23.5(°) and 40(°) N and S), and Northern (≥ 40(o) N). Significant association was only found for Sub-Tropical area, both using fixed and random effect models. In conclusion, MTHFR 677CT polymorphism is a moderate risk factor for DS for some populations, and populations located in Sub-Tropical region seem to be at greater risk. Latitude, ethnicity, skin pigmentation, and red blood cell folate are important variables to be considered in future studies. |
| Databáze: | OpenAIRE |
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