Association between polymorphisms, haplotypes of peroxisome proliferators activated receptor α gene and the level of lipoprotein (a) / 中华流行病学杂志

ABSTRACT

Objective The aim of this study was to investigate the association between three single-nucleotide polymorphisms (SNP) of in the peroxisome proliferator-activated receptor (PPAR)α gene and the level of lipoprotein (a) [Lp (a)].Methods Participants were recruited under the framework of a cohort populations survey from the PMMJS (Prevention of Multiple Metabolic Disorders and MS in Jiangsu Province) which was conducted in the urban community of Jiangsu province from 1999 to 2007.644 subjects (234 males,410 females) were randomly selected and genotyped for three polymorphisms which were used as genetic marker for PPARα gene (rs 1800206,rs4253778 and rs135539).Data related to individual polymorphism and haplotype were available for analysis.x2 test was used to determine if the whole population was in Hardy-Weinberg genetic equilibrium.Linear regression models were used to analyze the association between SNPs in PPARα gene and the level of Lp(a).Associations between PPARα haplotypes and serum Lp(a) levels were analyzed by the SNPstats software.Results In the dominant model,after factors as sex,age,smoking,alcohol and BMI were adjusted,the presence of the V162 allele of L162V appeared associated with a high level of Lp(a) (mean difference was 57.70 mg/L(95％CI32.03-83.37 mg/L),P＜0.001.Data from the haplotype analysis revealed that A-G-V and C-G-V haplotype (established by 1A＞C,7G＞C L162V) were significantly associated with a higher level of Lp(a) (P=0.012 0 and 0.009 7).Conclusion Results from our study might help to clarify the role ofPPARα gene in regulation of Lp (a) and the evaluation of its polymorphisms and haplotypes which were characterized as genetic factors for Lp (a).