title: Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese population.
abstract: BACKGROUND
  A recent genome-wide association study in Caucasians revealed that three loci (rs174547 in fatty acid desaturase 1 (FADS1), rs2338104 near mevalonate kinase/methylmalonic aciduria, cobalamin deficiency, cblB type (MVK/MMAB) and rs10468017 near hepatic lipase (LIPC)) influence the plasma concentrations of high-density lipoprotein-cholesterol (HDL-C) and triglycerides (TG). However, there are few reports on the associations between these polymorphisms and plasma lipid concentrations in Chinese individuals. This study aimed to evaluate the associations between these three polymorphisms with HDL-C and TG concentrations, as well as coronary heart disease (CHD) susceptibility in Chinese individuals.
  
  
  METHODS
  We conducted a population-based case-control study in Chinese individuals to evaluate the associations between these three polymorphisms and HDL-C and TG concentrations, and also evaluated their associations with susceptibility to CHD. Genotypes were determined using polymerase chain reaction-restriction fragment length polymorphism assays and TaqMan genotyping assays.
  
  
  RESULTS
  We found significant differences in TG and HDL-C concentrations among the TT, TC and CC genotypes of FADS1 rs174547 (P=0.017 and 0.003, respectively, multiple linear regression). The CC variant of rs174547 was significantly associated with hyperlipidemia compared with the TT variant (adjusted odds ratio (OR)=1.71, 95% confidence intervals (CI): 1.16-2.54). The FADS1 rs174547 CC variant was also associated with significantly increased CHD risk compared with the TT and TC variant (adjusted OR=1.53, 95%CI: 1.01-2.31), and the effect was more evident among nonsmokers and females. The polymorphisms rs2338104 and rs10468017 did not significantly influence HDL-C or TG concentrations in this Chinese population.
  
  
  CONCLUSIONS
  rs174547 in FADS1 may contribute to the susceptibility of CHD by altering HDL-C and TG levels in Chinese individuals.
authors.affiliation: Department of Epidemiology and Biostatistics, Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210029, China.
authors.forename: Si-jun
authors.initials: SJ
authors.lastname: Liu
authors.forename: Hong
authors.initials: H
authors.lastname: Zhi
authors.forename: Pei-zhan
authors.initials: PZ
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Feng
authors.initials: F
authors.lastname: Lu
authors.forename: Gen-shan
authors.initials: GS
authors.lastname: Ma
authors.forename: Jun-cheng
authors.initials: JC
authors.lastname: Dai
authors.forename: Chong
authors.initials: C
authors.lastname: Shen
authors.forename: Nai-feng
authors.initials: NF
authors.lastname: Liu
authors.forename: Zhi-bin
authors.initials: ZB
authors.lastname: Hu
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Hong-bing
authors.initials: HB
authors.lastname: Shen
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D008076:Cholesterol, HDL / Q000097:blood; D003327:Coronary Disease / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D000090943:Delta-5 Fatty Acid Desaturase; D044943:Fatty Acid Desaturases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D000090943:Delta-5 Fatty Acid Desaturase; D014280:Triglycerides; D044943:Fatty Acid Desaturases; C000716847:FADS1 protein, human