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Updated: Aug 13, 2026

Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Linkage disequilibrium sharing and haplotype-tagged SNP portability between populations
Wei Huang1, Yungang He, Haifeng Wang
1Chinese National Human Genome Center, Shanghai 201203, China. huangwei@chgc.sh.cn
Abstract:
The discovery of the block-like structure of linkage disequilibrium (LD) in human populations holds the promise of delineating the etiology of common diseases. However, understanding the magnitude, mechanism, and utility of between-population LD sharing is critical for future genome-wide association studies. In this study, substantial LD sharing between six non-African populations was observed, although much less between African-American and non-African, based on 20,000 SNPs of chromosome 21. We also demonstrated the respective roles of recombination and demographic events in shaping LD sharing. Furthermore, we showed that the haplotype-tagged SNPs chosen from one population are portable to the others in East Asia. Therefore, we concluded that the magnitude of LD sharing between human populations justifies the use of representative populations for selecting haplotype-tagged SNPs in genome-wide association studies of complex diseases.
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