Open AccessGenome-Wide Association Study Identifies Variants in PMS1 Associated with Serum Ferritin in a Chinese Population
Author(s) -
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
Publication year - 2014
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0105844
Subject(s) - genome wide association study , ferritin , genotyping , single nucleotide polymorphism , genetics , biology , population , population stratification , genetic association , gene , genotype , medicine , biochemistry , environmental health
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.