title: Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population.
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 200 kb 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.
authors.affiliation: Institute of Urology and Nephrology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China; Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Ming
authors.initials: M
authors.lastname: Liao
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Jianying
authors.initials: J
authors.lastname: Shi
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Lirong
authors.initials: L
authors.lastname: Huang
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Tan
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Urology Department, First Affiliated Hospital of Xinxiang Medical College, Xinxiang, Henan Province, China.
authors.forename: Chunlei
authors.initials: C
authors.lastname: Wu
authors.affiliation: Institute of Urology and Nephrology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China; Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Zheng
authors.initials: Z
authors.lastname: Lu
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; School of Public Health, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Yang
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Department of Pharmacology, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Shijun
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Medical Scientific Research Center, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Yanlin
authors.initials: Y
authors.lastname: Hu
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Xue
authors.initials: X
authors.lastname: Qin
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Institute of Cardiovascular Disease, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Jianling
authors.initials: J
authors.lastname: Li
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; Pathology Department, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Gang
authors.initials: G
authors.lastname: Chen
authors.affiliation: Center for Cancer Genomics, Wake Forest University, School of Medicine, Winston-Salem, North Carolina, United States of America; Center for Genetic Epidemiology, Van Andel Research Institute, Grand Rapids, Michigan, United States of America.
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
authors.affiliation: Institute of Urology and Nephrology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, PR China; Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China.
authors.forename: Zengnan
authors.initials: Z
authors.lastname: Mo
authors.affiliation: Center for Genomic and Personalized Medicine, Guangxi Medical University, Nanning, Guangxi, PR China; School of Public Health, Guangxi Medical University, Nanning, Guangxi, PR China; General Practice School, Guangxi Medical University, Nanning, Guangxi, China.
authors.forename: Haiying
authors.initials: H
authors.lastname: Zhang
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000367:Age Factors; D000368:Aged; D044466:Asian People; D015415:Biomarkers / Q000378:metabolism; D015992:Body Mass Index; D027682:Cation Transport Proteins / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000737:chemistry; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics*; D015870:Gene Expression; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070956:MutL Proteins; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D000098742:Ferroportin
chemical_list: D020121:5' Untranslated Regions; D015415:Biomarkers; D027682:Cation Transport Proteins; D009363:Neoplasm Proteins; C088996:PMS1 protein, human; D000098742:Ferroportin; D005293:Ferritins; D000070956:MutL Proteins