Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han Population

Da Min, Feng Yu, Xu Jing, Hu Yuanli, Yuan Lin, Ni Bixian, Qian Bo, Hu Zhibin, Mo Xuming

Research output: Contribution to journalArticle

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Abstract

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 singlenucleotide 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 = 3.81610 22 ], rs2230301 [A/C; OR = 0.73, 95%CI = 0.60-0.90, P = 3.81610 2 2 ], rs1061160 [G/A; OR = 1.18, 95%CI = 1.06-1.31; P = 3.53610 2 3 ] and rs5030754 [G/A; OR = 1.39, 95%CI = 1.11-1.75; P = 4.4761023] 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 (Ptrend = 5.0061024). 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.

Original languageEnglish (US)
Article numbere110072
JournalPLoS ONE
Volume9
Issue number10
DOIs
StatePublished - Oct 13 2014
Externally publishedYes

Fingerprint

aminoacyl tRNA ligases
Amino Acyl-tRNA Synthetases
heart diseases
Polymorphism
Heart Diseases
Genes
genetic polymorphism
Population
odds ratio
genes
confidence interval
Odds Ratio
Confidence Intervals
Alleles
alleles
Disease control
case-control studies

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)

Cite this

Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han Population. / Min, Da; Yu, Feng; Jing, Xu; Yuanli, Hu; Lin, Yuan; Bixian, Ni; Bo, Qian; Zhibin, Hu; Xuming, Mo.

In: PLoS ONE, Vol. 9, No. 10, e110072, 13.10.2014.

Research output: Contribution to journalArticle

Min, Da ; Yu, Feng ; Jing, Xu ; Yuanli, Hu ; Lin, Yuan ; Bixian, Ni ; Bo, Qian ; Zhibin, Hu ; Xuming, Mo. / Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han Population. In: PLoS ONE. 2014 ; Vol. 9, No. 10.
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title = "Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han Population",
abstract = "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 singlenucleotide 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 = 3.81610 22 ], rs2230301 [A/C; OR = 0.73, 95{\%}CI = 0.60-0.90, P = 3.81610 2 2 ], rs1061160 [G/A; OR = 1.18, 95{\%}CI = 1.06-1.31; P = 3.53610 2 3 ] and rs5030754 [G/A; OR = 1.39, 95{\%}CI = 1.11-1.75; P = 4.4761023] 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 (Ptrend = 5.0061024). 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.",
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T1 - Association of aminoacyl-tRNA synthetases gene polymorphisms with the risk of congenital heart disease in the Chinese Han Population

AU - Min, Da

AU - Yu, Feng

AU - Jing, Xu

AU - Yuanli, Hu

AU - Lin, Yuan

AU - Bixian, Ni

AU - Bo, Qian

AU - Zhibin, Hu

AU - Xuming, Mo

PY - 2014/10/13

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N2 - 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 singlenucleotide 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 = 3.81610 22 ], rs2230301 [A/C; OR = 0.73, 95%CI = 0.60-0.90, P = 3.81610 2 2 ], rs1061160 [G/A; OR = 1.18, 95%CI = 1.06-1.31; P = 3.53610 2 3 ] and rs5030754 [G/A; OR = 1.39, 95%CI = 1.11-1.75; P = 4.4761023] 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 (Ptrend = 5.0061024). 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.

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