title: The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population.
abstract: A recent case-control study reported that a functional single nucleotide polymorphism (SNP) in the proteasome subunit alpha type 6 gene (PSMA6) (rs1048990, C/G) was associated with susceptibility to myocardial infarction (MI) in the Japanese population. Replication studies have been performed in European and other Japanese study samples, but the results were not conclusive. The purpose of the present study was to determine whether this locus confers significant susceptibility to MI in a Chinese population. We conducted a case-control association study on a cohort of 1884 MI patients and 2643 unrelated controls from the Chinese population. Genotyping of the rs1048990 SNP was performed by the Allele-specific Real Time PCR method. We found that rs1048990 was significantly associated with MI (adjusted for age and sex, odds ratio 1.22, p=0.000005, allele frequency model; odds ratio 1.44, p=0.0000025; recessive model; odds ratio 1.56, p=0.00000048, additive model). A meta-analysis yielded a combined OR for MI of 1.15 (95% CI: 1.11-1.21) with an allele frequency model, 1.37 (95% CI: 1.23-1.51) with a recessive model and 1.44 (95% CI: 1.29-1.60) with an additive model. There was no relationship between rs1048990 and age, sex or other conventional cardiovascular risk factors. Our results indicate that the PSMA6 variant rs1048990 is a risk factor of myocardial infarction in the Chinese population.
authors.affiliation: The First Affiliated Hospital, Medical College of Shantou University, Shantou, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Liu
authors.forename: Xingyu
authors.initials: X
authors.lastname: Wang
authors.forename: Yue
authors.initials: Y
authors.lastname: Shen
authors.forename: Lijun
authors.initials: L
authors.lastname: Wu
authors.forename: Xiaoyang
authors.initials: X
authors.lastname: Ruan
authors.forename: Klaus
authors.initials: K
authors.lastname: Lindpaintner
authors.forename: Salim
authors.initials: S
authors.lastname: Yusuf
authors.forename: James C
authors.initials: JC
authors.lastname: Engert
authors.forename: Sonia
authors.initials: S
authors.lastname: Anand
authors.forename: Xuerui
authors.initials: X
authors.lastname: Tan
authors.forename: Lisheng
authors.initials: L
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D046988:Proteasome Endopeptidase Complex / Q000235:genetics*; D012307:Risk Factors
chemical_list: C465641:PSMA6 protein, human; D046988:Proteasome Endopeptidase Complex