Short Reads Phasing to Construct Haplotypes in Genomic Regions That Are Associated with Body Mass Index in Korean Individuals

초록

Genome-wide association (GWA) studies have found many important genetic variants that affect various traits. Since thesestudies are useful to investigate untyped but causal variants using linkage disequilibrium (LD), it would be useful to explorethe haplotypes of single-nucleotide polymorphisms (SNPs) within the same LD block of significant associations based onhigh-density variants from population references. Here, we tried to make a haplotype catalog affecting body mass index(BMI) through an integrative analysis of previously published whole-genome next-generation sequencing (NGS) data of 7representative Korean individuals and previously known Korean GWA signals. We selected 435 SNPs that were significantlyassociated with BMI from the GWA analysis and searched 53 LD ranges nearby those SNPs. With the NGS data, the haplotypeswere phased within the LDs. A total of 44 possible haplotype blocks for Korean BMI were cataloged. Although the currentresult constitutes little data, this study provides new insights that may help to identify important haplotypes for traits andlow variants nearby significant SNPs. Furthermore, we can build a more comprehensive catalog as a larger dataset becomes available.

키워드