Linkage disequilibrium sharing and haplotype-tagged SNP portability between populations.
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.
Huang
Wei
W
Chinese National Human Genome Center, Shanghai 201203, China. huangwei@chgc.sh.cn
He
Yungang
Y
Wang
Haifeng
H
Wang
Ying
Y
Liu
Yangfan
Y
Wang
Yi
Y
Chu
Xun
X
Wang
Ying
Y
Xu
Liang
L
Shen
Yayun
Y
Xiong
Xiaoyan
X
Li
Hui
H
Wen
Bo
B
Qian
Ji
J
Yuan
Wentao
W
Zhang
Chenhui
C
Wang
Yi
Y
Jiang
Hongquan
H
Zhao
Guoping
G
Chen
Zhu
Z
Jin
Li
L
D000349:Africa; D000465:Algorithms; D044383:Black People; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D016678:Genome; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D015233:Models, Statistical; D008962:Models, Theoretical; D020641:Polymorphism, Single Nucleotide; D001741:Black or African American