title: Genotype frequency and F ST analysis of polymorphisms in immunoregulatory genes in Chinese and Caucasian populations.
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 (F ST approximately 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 < F ST < 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.
authors.affiliation: Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA.
authors.forename: Qing
authors.initials: Q
authors.lastname: Lan
authors.forename: Min
authors.initials: M
authors.lastname: Shen
authors.forename: Dino
authors.initials: D
authors.lastname: Garcia-Rossi
authors.forename: Stephen
authors.initials: S
authors.lastname: Chanock
authors.forename: Tongzhang
authors.initials: T
authors.lastname: Zheng
authors.forename: Sonja I
authors.initials: SI
authors.lastname: Berndt
authors.forename: Vinita
authors.initials: V
authors.lastname: Puri
authors.forename: Guilan
authors.initials: G
authors.lastname: Li
authors.forename: Xingzhou
authors.initials: X
authors.lastname: He
authors.forename: Robert
authors.initials: R
authors.lastname: Welch
authors.forename: Shelia H
authors.initials: SH
authors.lastname: Zahm
authors.forename: Luoping
authors.initials: L
authors.lastname: Zhang
authors.forename: Yawei
authors.initials: Y
authors.lastname: Zhang
authors.forename: Martyn
authors.initials: M
authors.lastname: Smith
authors.forename: Sophia S
authors.initials: SS
authors.lastname: Wang
authors.forename: Brian C-H
authors.initials: BC
authors.lastname: Chiu
authors.forename: Martha
authors.initials: M
authors.lastname: Linet
authors.forename: Richard
authors.initials: R
authors.lastname: Hayes
authors.forename: Nathaniel
authors.initials: N
authors.lastname: Rothman
authors.forename: Meredith
authors.initials: M
authors.lastname: Yeager
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D018925:Chemokines / Q000235:genetics*; D002681:China; D003237:Connecticut; D016207:Cytokines / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015847:Interleukin-4 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic; D044465:White People / Q000235:genetics*
chemical_list: D018925:Chemokines; D016207:Cytokines; C508598:IL4 protein, human; D015847:Interleukin-4