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Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population

Author

Listed:
  • Ming Liao
  • Jianying Shi
  • Lirong Huang
  • Yong Gao
  • Aihua Tan
  • Chunlei Wu
  • Zheng Lu
  • Xiaobo Yang
  • Shijun Zhang
  • Yanlin Hu
  • Xue Qin
  • Jianling Li
  • Gang Chen
  • Jianfeng Xu
  • Zengnan Mo
  • Haiying Zhang

Abstract

Only a small proportion of genetic variation in serum ferritin has been explained by variant genetic studies, and genome-wide association study (GWAS) for serum ferritin has not been investigated widely in Chinese population. We aimed at exploring the novel genetic susceptibility to serum ferritin, and performed this two stage GWAS in a healthy Chinese population of 3,495 men aged 20–69 y, including 1,999 unrelated subjects in the first stage and 1,496 independent individuals in the second stage. Serum ferritin was measured with electrochemiluminescence immunoassay, and DNA samples were collected for genotyping. A total of 1,940,243 SNPs were tested by using multivariate linear regression analysis. After adjusting for population stratification, age and BMI, the rs5742933 located in the 5′UTR region of PMS1 gene on chromosome 2 was the most significantly associated with ferritin concentrations (P-combined = 2.329×10−10) (β = −0.11, 95% CI: −0.14, −0.07). Moreover, this marker was about 200kb away from the candidate gene SLC40A1 which is responsible for iron export. PMS1 gene was the novel genetic susceptibility to serum ferritin in Chinese males and its relation to SLC40A1 needs further study.

Suggested Citation

  • Ming Liao & Jianying Shi & Lirong Huang & Yong Gao & Aihua Tan & Chunlei Wu & Zheng Lu & Xiaobo Yang & Shijun Zhang & Yanlin Hu & Xue Qin & Jianling Li & Gang Chen & Jianfeng Xu & Zengnan Mo & Haiying, 2014. "Genome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population," PLOS ONE, Public Library of Science, vol. 9(8), pages 1-7, August.
  • Handle: RePEc:plo:pone00:0105844
    DOI: 10.1371/journal.pone.0105844
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    1. Xiaobo Yang & Jielin Sun & Yong Gao & Aihua Tan & Haiying Zhang & Yanling Hu & Junjie Feng & Xue Qin & Sha Tao & Zhuo Chen & Seong-Tae Kim & Tao Peng & Ming Liao & Xiaoling Lin & Zengfeng Zhang & Minz, 2012. "Genome-Wide Association Study for Serum Complement C3 and C4 Levels in Healthy Chinese Subjects," PLOS Genetics, Public Library of Science, vol. 8(9), pages 1-8, September.
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    Cited by:

    1. Abbas Khalili & Farhad Shokoohi & Masoud Asgharian & Shili Lin, 2023. "Sparse estimation in semiparametric finite mixture of varying coefficient regression models," Biometrics, The International Biometric Society, vol. 79(4), pages 3445-3457, December.

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