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Comparison of ENCODE Region SNPs between Cebu Filipino and Asian HapMap Samples


Marvelle, Amanda F.; Lange, Leslie A.; Qin, Li; Wang, Yunfei; Lange, Ethan M.; Adair, Linda S.; & Mohlke, Karen L. (2007). Comparison of ENCODE Region SNPs between Cebu Filipino and Asian HapMap Samples. Journal of Human Genetics, 52(9), 729-737.


Patterns of linkage disequilibrium (LD) act as the framework for designing efficient association studies; these patterns are being studied and catalogued by The International HapMap Project. The current study assessed the transferability of tag SNPs chosen from HapMap panels to a cohort of 80 individuals from metro Cebu, Philippines, who participated in the Cebu Longitudinal Health and Nutrition Survey (CLHNS). The analyses focused on 627 single nucleotide polymorphisms (SNPs) in the central 40 kb within each of the 10 HapMap ENCODE regions. The similarity between the genetic variants in Cebu Filipino samples and HapMap panels was examined using allele frequency estimates, measures of pairwise linkage disequilibrium (LD), and haplotype frequency estimates. For these measures, strong correlations were observed between the Cebu Filipino samples and the Asian panels from HapMap, with the strongest correlations observed with the Han Chinese from Beijing (CHB) panel. Tag SNPs selected using the HapMap CHB panel were particularly effective at representing the genetic variation in Cebu Filipino samples. These results suggest that the HapMap data will be an effective resource for future studies in Cebu Filipino samples.


Reference Type

Journal Article

Year Published


Journal Title

Journal of Human Genetics


Marvelle, Amanda F.
Lange, Leslie A.
Qin, Li
Wang, Yunfei
Lange, Ethan M.
Adair, Linda S.
Mohlke, Karen L.