Abstract for presentation at 11th International Congress of Human Genetics

Introduction: Polymorphisms in the MTHFR gene predispose to hyperhomocystinaemia in folate deficient states. We studied the haplotype structure of the MTHFR gene in the Sri Lankan population, prior to undertaking genetic association studies of diseases, in which hyperhomocystinaemia is a feature, with polymorphisms in the MTHFR gene.
Methods: 240 (50% male) random Sinhalese (80), Sri Lankan Tamil (80) and Moor (80) volunteers were genotyped at MTHFR 677C>T, 1298A>C, and 1793G>A polymorphic sites using PCR/RFLP methods. Haplotype analysis was performed using the COCAPHASE program of the UNPHASED software suite. This data was compared with data from the HapMap Project (http://www.hapmap.org).
Results: The haplotype structure of Sri Lankan racial groups was similar (p>0.1), but differed from that of the two HapMap populations for which genotyping data was available for the three polymorphisms. There was complete linkage (D’=1) between the 677C>T and 1298A>C; and 677C>T and 1793G>A polymorphic sites in the Sri Lankan populations, but the correlation between them was poor r²<0.01).
Conclusion: It would be useful to confirm the background haplotype structure in populations not represented in the HapMap project prior to selecting tagSNPs for genetic association studies.
Acknowledgement: This project was funded by the National Science Foundation, Sri Lanka.