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

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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 ~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.

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Authors and Affiliations

  1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA

    Qing Lan, Min Shen, Dino Garcia-Rossi, Stephen Chanock, Sonja I. Berndt, Vinita Puri, Robert Welch, Shelia H. Zahm, Sophia S. Wang, Martha Linet, Richard Hayes, Nathaniel Rothman & Meredith Yeager

  2. Department of Epidemiology and Public Health, Yale School of Medicine, New Haven, CT, USA

    Tongzhang Zheng & Yawei Zhang

  3. School of Public Health, University of California, Berkeley, CA, USA

    Luoping Zhang & Martyn Smith

  4. Institute of Occupational Health and Poison Control, China Center of Disease Control and Prevention, Beijing, China

    Guilan Li

  5. Institute of Environmental Health and Engineering, Chinese Center for Disease Control and Prevention, Beijing, China

    Xingzhou He

  6. Department of Preventive Medicine, Northwestern University Medical School, Chicago, IL, USA

    Brian C.-H. Chiu

  7. Core Genotyping Facility, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 8717 Grovemont Circle, Gaithersburg, MD, China

    Meredith Yeager

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  1. Qing Lan
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  2. Min Shen
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Correspondence to Meredith Yeager.

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Lan, Q., Shen, M., Garcia-Rossi, D. et al. Genotype frequency and F ST analysis of polymorphisms in immunoregulatory genes in Chinese and Caucasian populations. Immunogenetics 59, 839–852 (2007). https://doi.org/10.1007/s00251-007-0253-3

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