与人类血液中低密度脂蛋白胆固醇、高密度脂蛋白胆固醇或甘油三酯相关的六个新基因座。
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
作者信息
Kathiresan Sekar, Melander Olle, Guiducci Candace, Surti Aarti, Burtt Noël P, Rieder Mark J, Cooper Gregory M, Roos Charlotta, Voight Benjamin F, Havulinna Aki S, Wahlstrand Björn, Hedner Thomas, Corella Dolores, Tai E Shyong, Ordovas Jose M, Berglund Göran, Vartiainen Erkki, Jousilahti Pekka, Hedblad Bo, Taskinen Marja-Riitta, Newton-Cheh Christopher, Salomaa Veikko, Peltonen Leena, Groop Leif, Altshuler David M, Orho-Melander Marju
机构信息
Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
出版信息
Nat Genet. 2008 Feb;40(2):189-97. doi: 10.1038/ng.75. Epub 2008 Jan 13.
Blood concentrations of lipoproteins and lipids are heritable risk factors for cardiovascular disease. Using genome-wide association data from three studies (n = 8,816 that included 2,758 individuals from the Diabetes Genetics Initiative specific to the current paper as well as 1,874 individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated variables reported in a companion paper in this issue) and targeted replication association analyses in up to 18,554 independent participants, we show that common SNPs at 18 loci are reproducibly associated with concentrations of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and/or triglycerides. Six of these loci are new (P < 5 x 10(-8) for each new locus). Of the six newly identified chromosomal regions, two were associated with LDL cholesterol (1p13 near CELSR2, PSRC1 and SORT1 and 19p13 near CILP2 and PBX4), one with HDL cholesterol (1q42 in GALNT2) and five with triglycerides (7q11 near TBL2 and MLXIPL, 8q24 near TRIB1, 1q42 in GALNT2, 19p13 near CILP2 and PBX4 and 1p31 near ANGPTL3). At 1p13, the LDL-associated SNP was also strongly correlated with CELSR2, PSRC1, and SORT1 transcript levels in human liver, and a proxy for this SNP was recently shown to affect risk for coronary artery disease. Understanding the molecular, cellular and clinical consequences of the newly identified loci may inform therapy and clinical care.
脂蛋白和血脂的血液浓度是心血管疾病的遗传性风险因素。利用三项研究的全基因组关联数据(n = 8816,其中包括2758名来自本论文特定的糖尿病遗传计划的个体,以及1874名来自2型糖尿病FUSION研究的个体和4184名来自本期一篇配套论文中报道的衰老相关变量的撒丁岛研究的个体),并在多达18554名独立参与者中进行靶向复制关联分析,我们发现18个位点的常见单核苷酸多态性(SNP)与低密度脂蛋白(LDL)胆固醇、高密度脂蛋白(HDL)胆固醇和/或甘油三酯的浓度可重复相关。其中六个位点是新发现的(每个新位点的P < 5×10⁻⁸)。在六个新确定的染色体区域中,两个与LDL胆固醇相关(1号染色体短臂1区3带靠近CELSR2、PSRC1和SORT1以及19号染色体短臂1区3带靠近CILP2和PBX4),一个与HDL胆固醇相关(1号染色体长臂4区2带在GALNT2中),五个与甘油三酯相关(7号染色体长臂1区1带靠近TBL2和MLXIPL、8号染色体长臂2区4带靠近TRIB1、1号染色体长臂4区2带在GALNT2中、19号染色体短臂1区3带靠近CILP2和PBX4以及1号染色体短臂3区1带靠近ANGPTL3)。在1号染色体短臂1区3带,与LDL相关的SNP也与人肝脏中CELSR2、PSRC1和SORT1的转录水平高度相关,并且最近显示该SNP的一个替代物会影响冠状动脉疾病的风险。了解新确定位点的分子、细胞和临床后果可能会为治疗和临床护理提供信息。