title: A single nucleotide polymorphism in the FADS1/FADS2 gene is associated with plasma lipid profiles in two genetically similar Asian ethnic groups with distinctive differences in lifestyle.
abstract: Recent genome-wide association studies (GWASs) showed that single nucleotide polymorphisms (SNPs) in FADS1/FADS2 were associated with plasma lipid concentrations in populations with European ancestry. We investigated the associations between the SNPs in FADS1/FADS2 and plasma concentrations of triglycerides, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) in two Asian groups, i.e., Japanese and Mongolians. The genotype of rs174547 (T/C), found to be associated with triglyceride and HDL-C concentrations in the GWAS, was determined in 21,004 Japanese and 1,203 Mongolian individuals. Genotype-phenotype association was assessed by using multiple linear regression models, assuming an additive model of inheritance. The copy number of the rs174547 C allele was significantly associated with increased triglyceride levels (P = 1.5 x 10(-6)) and decreased HDL-C levels (P = 0.03) in the Japanese population. On the other hand, in the Mongolian population, the rs174547 C allele copy number was strongly associated with decreased LDL-C levels (P = 2.6 x 10(-6)), but was not associated with triglyceride and HDL-C levels. The linkage disequilibrium pattern and haplotype structures of SNPs around the FADS1/FADS2 locus showed no marked dissimilarity between Japanese and Mongolian individuals. The present data indicate that the FADS1/FADS2 locus can be added to the growing list of loci involved in polygenic dyslipidemia in Asians. Furthermore, the variable effects of FADS1/FADS2 on plasma lipid profiles in Asians may result from differences in the dietary intake of polyunsaturated fatty acids, which serve as substrates for enzymes encoded by FADS1/FADS2.
authors.affiliation: Division of Human Genetics, Center for Community Medicine, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi 329-0498, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Nakayama
authors.forename: Tumenbayer
authors.initials: T
authors.lastname: Bayasgalan
authors.forename: Fumiko
authors.initials: F
authors.lastname: Tazoe
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Yanagisawa
authors.forename: Takaya
authors.initials: T
authors.lastname: Gotoh
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamanaka
authors.forename: Ayumi
authors.initials: A
authors.lastname: Ogawa
authors.forename: Lkhagvasuren
authors.initials: L
authors.lastname: Munkhtulga
authors.forename: Ulziiburen
authors.initials: U
authors.lastname: Chimedregze
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Kagawa
authors.forename: Shun
authors.initials: S
authors.lastname: Ishibashi
authors.forename: Sadahiko
authors.initials: S
authors.lastname: Iwamoto
mesh_terms: D044466:Asian People / Q000235:genetics; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D000090943:Delta-5 Fatty Acid Desaturase; D005006:Ethnicity / Q000235:genetics*; D044943:Fatty Acid Desaturases / Q000235:genetics*; D056726:Genetic Association Studies; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008019:Life Style; D015810:Linkage Disequilibrium; D008055:Lipids / Q000097:blood*; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D000090943:Delta-5 Fatty Acid Desaturase; D008055:Lipids; D014280:Triglycerides; D044943:Fatty Acid Desaturases; C000716847:FADS1 protein, human; C533241:FADS2 protein, human