MTHFR Genetic Polymorphism As a Risk Factor in Egyptian Mothers with Down Syndrome Children
| Autor: | Ahmed A. Dardir, Lamia El Hossieny, Mostafa K. El Awady, Afaf Ezzat, Mohamed Khass, Nagwa A. Meguid |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Adult
medicine.medical_specialty MTHFR 677C/T polymorphism Genotype Offspring Down syndrome Clinical Biochemistry Pilot Projects Reference Daily Intake polymorphism MTHFR 1298A/C polymorphism Folic Acid Methylenetetrahydrofolate reductase (MTHFR) Gene Frequency Polymorphism (computer science) Odds Ratio Genetics medicine Humans Genetic Predisposition to Disease Egyptian Risk factor Molecular Biology Allele frequency Methylenetetrahydrofolate Reductase (NADPH2) lcsh:R5-920 Polymorphism Genetic biology Obstetrics Biochemistry (medical) General Medicine Odds ratio Diet Methylenetetrahydrofolate reductase biology.protein Egypt Female Other lcsh:Medicine (General) Polymorphism Restriction Fragment Length |
| Zdroj: | Disease Markers, Vol 24, Iss 1, Pp 19-26 (2008) Disease markers |
| ISSN: | 0278-0240 |
| DOI: | 10.1155/2008/214027 |
| Popis: | Recent reports linking Down syndrome (DS) to maternal polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) gene locus have generated great interest among investigators in the field. The present study aimed at evaluation ofMTHFR677C/T and 1298A/C polymorphisms in theMTHFRgene as maternal risk factors for DS. Forty two mothers of proven DS outcomes and forty eight control mothers with normal offspring were included. Complete medical and nutritional histories for all mothers were taken with special emphasis on folate intake. Folic acid intake from food or vitamin supplements was significantly low (below the Recommended Daily Allowance) in the group of case mothers compared to control mothers. Frequencies ofMTHFR677T andMTHFR1298C alleles were significantly higher among case mothers (32.1% and 57.1%, respectively) compared to control mothers (18.7% and 32.3%, respectively). Heterozygous and homozygous genotype frequencies ofMTHFRat position 677 (CT and TT) were higher among case mothers than controls (40.5% versus 25% and 11.9% versus 6.2%, respectively) with an odds ratio of 2.34 (95% confidence interval [CI] 0.93–5.89) and 2.75 (95% CI 0.95–12.77), respectively. Interestingly, the homozygous genotype frequency (CC) at position 1298 was significantly higher in case mothers than in controls (33.3% versus 2.1% respectively) with an odds ratio of 31.5 (95% CI 3.51 to 282.33) indicating that this polymorphism may have more genetic impact than 677 polymorphism. Heterozygous genotype (AC) did not show significant difference between the two groups. We here report on the first pilot study of the possible genetic association between DS andMTHFR1298A/C genotypes among Egyptians. Further extended studies are recommended to confirm the present work. |
| Databáze: | OpenAIRE |
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