Haplotype Structure and Evidence for Positive Selection at the Human IL13 Locus

• DOI: 10.1093/molbev/msg231
• Publication Date: 2004-02-12T06:22:28Z
• Authors: G. Zhou
• Keywords: 0301 basic medicine; Likelihood Functions; Interleukin-13; Geography; Models, Genetic; Black People; Genetic Variation; Polymorphism, Single Nucleotide; White People; 03 medical and health sciences; Genetics, Population; Asian People; Gene Frequency; Haplotypes; Cluster Analysis; Humans; Selection, Genetic; Phylogeny

Interleukin-13 (IL13) is believed to play an important role in the pathogenesis of atopy and allergic asthma. To better understand genetic variation at IL13 locus, we resequenced a 5.1-kb genomic region spanning entire locus identified 26 single-nucleotide polymorphisms (SNPs) 74 individuals from three major populations—Chinese, Caucasian, African. Our survey suggests exceptionally high significant geographic structure between African outside Africa populations. This unusual pattern that positive selection acts some local populations may have played on locus. In support this suggestion, found excess frequency–derived SNPs Chinese population Caucasian population, respectively, as expected after recent episode selection. Further, haplotype indicates different scenarios action exist. skewed distribution dominated by one common supports hypothesis simple directional Whereas, two-round hitchhiking explain with dominant ones. These findings provide insight into likely relative roles history establishing present-day and, motivate further studies candidate diseases association studies.