The Association Between GALNT2Polymorphisms And Triglyceride Levels In Chinese Han Population

Background and Purpose—Common variants in polypeptide GalNac-transferase genehave recently been identified as determinants of plasma triglyceride level, whose elevationincreases the risk for coronary artery disease (CAD). Less is known about the implicationsof common genetic variation in GALNT2gene regarding the severity of atherosclerosis inCAD subjects as well as the role of rare variants in the pathogenesis ofhypertriglyceridemia (HTG)Methods—Associations between2common variants (rs4846914and rs2144300) andplasma triglyceride concentration as well as Gensini score were explored in2076ChineseHan individuals and1723CAD subjects respectively. Genetic variants in the GALNT2gene and its promoter region were determined by resequencing it in420subjects,(192normal controls,104moderate increase HTG and124severe HTG).Results—Using multiple linear regression analyses, the association between rs4846914and rs2144300in GALNT2and triglyceride concentrations were replicated in Chinese Hanpopulation (β=-0.056, p=0.013for rs4846914and β=-0.055, p=0.023for rs2144300inadditive model, respectively) while they did not associated with gensini score in CADpatients. Sixteen rare nonsynonymous mutations were detected, all of which were presentas heterozygote, accumulating more frequently in HTG subjects than normal controls. Thecarrier odds ratio for mild HTG, severe HTG and combined HTG were6.86(95%CI1.40-33.6),5.68(1.16-27.8),6.21(1.40-27.7), respectively.Conclusion—Common variants in GALNT2were associated with triglyceride levels inChinese Han population, whereas rare mutations in it are more frequent in subjects withelevated triglycerides.