Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.
Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.
复制标题
氨酰基-tRNA合成酶基因多态性与中国汉族人群先天性心脏病风险的关系
DOI：
10.1371/journal.pone.0110072
复制
发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Mo X
中科院分区：
文献类型：
--
作者：
Da M;Feng Y;Xu J;Hu Y;Lin Y;Ni B;Qian B;Hu Z;Mo X
氨酰-tRNA合成酶（ARSs）负责细胞蛋白质合成，并且具有以除翻译之外的多功能方式发挥功能的额外结构域。8个核心ARS（EPRS，MRS，QRS，RRS，IRS，LRS，KRS，DRS）与3个非酶组分组成多合成酶复合物（MSC），我们推测8个核心ARS编码基因的单核苷酸多态性（SNP）可能影响散发性先天性心脏病（CHD）的易感性。因此，我们在中国汉族人群中对984例CHD病例和2953例非CHD对照进行了病例对照研究，以评估8个ARS编码基因中16个潜在功能SNP与CHD风险的关系。我们观察到rs 1061248与冠心病风险显著相关[G/A;比值比（OR）= 0.90，95%可信区间（CI）= 0.81-0.99; P = 3.81×10−2]，rs 2230301 [A/C; OR = 0.73，95%CI = 0.60-0.90，P = 3.81×10 - 2]，rs 1061160 [G/A; OR = 1.18，95%CI = 1.06-1.31; P = 3.53×10−3]和rs 5030754 [G/A; OR = 1.39，95%CI = 1.11-1.75; P = 4.47×10 - 3] EPRS基因。 经过多重比较，rs 1061248没有赋予CHD的易感性。此外，一项综合分析显示，在携带不同数量风险等位基因的个体中，CHD风险存在显著的剂量反应效应（P趋势= 5.00×10−4）。 与携带“0-2”危险等位基因的个体相比，携带“3”、“4”和“5或5以上”危险等位基因的个体患冠心病的危险性分别增加0.97、1.25和1.38倍。这些结果表明，EPRS基因的遗传变异可能会影响中国汉族人群冠心病的个体易感性。
Aminoacyl-tRNA synthetases (ARSs) are in charge of cellular protein synthesis and have additional domains that function in a versatile manner beyond translation. Eight core ARSs (EPRS, MRS, QRS, RRS, IRS, LRS, KRS, DRS) combined with three nonenzymatic components form a complex known as multisynthetase complex (MSC).We hypothesize that the single-nucleotide polymorphisms (SNPs) of the eight core ARS coding genes might influence the susceptibility of sporadic congenital heart disease (CHD). Thus, we conducted a case-control study of 984 CHD cases and 2953 non-CHD controls in the Chinese Han population to evaluate the associations of 16 potentially functional SNPs within the eight ARS coding genes with the risk of CHD. We observed significant associations with the risk of CHD for rs1061248 [G/A; odds ratio (OR) = 0.90, 95% confidence interval (CI) = 0.81–0.99; P = 3.81×10−2], rs2230301 [A/C; OR = 0.73, 95%CI = 0.60–0.90, P = 3.81×10−2], rs1061160 [G/A; OR = 1.18, 95%CI = 1.06–1.31; P = 3.53×10−3] and rs5030754 [G/A; OR = 1.39, 95%CI = 1.11–1.75; P = 4.47×10−3] of EPRS gene. After multiple comparisons, rs1061248 conferred no predisposition to CHD. Additionally, a combined analysis showed a significant dosage-response effect of CHD risk among individuals carrying the different number of risk alleles (P trend = 5.00×10−4). Compared with individuals with “0–2” risk allele, those carrying “3”, “4” or “5 or more” risk alleles had a 0.97-, 1.25- or 1.38-fold increased risk of CHD, respectively. These findings indicate that genetic variants of the EPRS gene may influence the individual susceptibility to CHD in the Chinese Han population.
登录
查看更多内容
影响因子：
14.8
作者：
Guo, Min;Schimmel, Paul
通讯作者：
Schimmel, Paul
影响因子：
8
作者：
Botto, LD;Correa, A;Erickson, JD
通讯作者：
Erickson, JD
影响因子：
9.8
作者：
Ackerman, Christine;Locke, Adam E.;Maslen, Cheryl L.
通讯作者：
Maslen, Cheryl L.
影响因子：
13.8
作者：
Mukhopadhyay, Rupak;Jia, Jie;Arif, Abul;Ray, Partho Sarothi;Fox, Paul L.
通讯作者：
Fox, Paul L.
影响因子：
3
作者：
Huhta, James;Linask, Kersti K.
通讯作者：
Linask, Kersti K.