Abstract
The Pediatric Genetics laboratory at LSU School of Medicine in Shreveport, LA, began offering prenatal service in NTD and chromosomal defect screening through triple screening program since 1995. The laboratory also began epidemiological research studies on the newborn population of Northwest Louisiana for several genetic disease mutations for the past 4 years as part of March of Dimes birth defects foundation and LSU foundation grants. We have recently reported the gene frequencies for MCAD deficiency, Factor V Leiden in our population and as part of thrombophilia markers we also started investigating the frequencies of MTHFR C677T and prothrombin G20210A polymorphism. Our local population composed of 76% African-Americans, 20% Caucasians, 2% Hispanics, and the rest other ethnic groups. Following English multi-center multivitamin studies on NTD in 1970 and '72 revealing possible risk reduction in recurrences of NTD with periconceptional supplementation of folic acid, folate-activating enzyme, MTHFR, has become the subject of intense study in various diseases. MTHFR was also linked to cardiovascular diseases through hyperhomocystinemia and recently to other complex genetic traits such as Orofacial clefts.
In our polymorphism studies, the carrier and homozygous C677T frequencies were found to be 24% and 3.5%, respectively, in the total population. However, on stratification by ethnicity, we found that the hetrozygote and homozygote frequencies were 18%, 46%, 45%, and 0.9%, 21%, 11%, respectively, in African-Americans, Hispanics and Caucasians. Our data found higher C677T homozygotes in our Hispanic newborn population than other ethnic groups and may explain the higher frequency of NTDs and Orofacial Clefts found in this population.
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Yanamandra, K., Napper, D., Jalanivich, D. et al. Prevalence of Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Northwest Louisiana newborn population. Genet Med 2, 113 (2000). https://doi.org/10.1097/00125817-200001000-00228
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DOI: https://doi.org/10.1097/00125817-200001000-00228