Genotype frequency and FST analysis of polymorphisms in immunoregulatory genes in Chinese and Caucasian populations

Qing Lan, Min Shen, Dino Garcia-Rossi, Stephen Chanock, Tongzhang Zheng, Sonja I. Berndt, Vinita Puri, Guilan Li, Xingzhou He, Robert Welch, Shelia H. Zahm, Luoping Zhang, Yawei Zhang, Martyn Smith, Sophia S. Wang, Brian C.H. Chiu, Martha Linet, Richard Hayes, Nathaniel Rothman, Meredith Yeager

Research output: Contribution to journalArticlepeer-review

Abstract

Selection and genetic drift can create genetic differences between populations. Cytokines and chemokines play an important role in both hematopoietic development and the inflammatory response. We compared the genotype frequencies of 45 SNPs in 30 cytokine and chemokine genes in two healthy Chinese populations and one Caucasian population. Several SNPs in IL4 had substantial genetic differentiation between the Chinese and Caucasian populations (FST ∼0.40), and displayed a strikingly different haplotype distribution. To further characterize common genetic variation in worldwide populations at the IL4 locus, we genotyped 9 SNPs at the IL4 gene in the Human Diversity Panel's (N=1056) individuals from 52 world geographic regions. We observed low haplotype diversity, yet strikingly different haplotype frequencies between non-African populations, which may indicate different selective pressures on the IL4 gene in different parts of the world. SNPs in CSF2, IL6, IL10, CTLA4, and CX3CR1 showed moderate genetic differentiation between the Chinese and Caucasian populations (0.15<FST<0.25). These results suggest that there is substantial genetic diversity in immune genes and exploration of SNP associations with immune-related diseases that vary in incidence across these two populations may be warranted.

Original languageEnglish (US)
Pages (from-to)839-852
Number of pages14
JournalImmunogenetics
Volume59
Issue number11
DOIs
StatePublished - Nov 1 2007

Keywords

  • Caucasians
  • Chinese
  • Cytokine genes
  • F
  • Genetic diversity
  • Genotype frequency

ASJC Scopus subject areas

  • Immunology
  • Genetics

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