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DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in patients with transposition of great arteries.

Abstract Complete transposition of the great arteries (TGA) is the most frequent cyanotic heart defect diagnosed in neonates. However, the exact etiology of TGA is unknown. The aim of the present study was to assess the association of TGA pathogenesis with single nucleotide polymorphisms (SNPs) in DNA methyltransferases (DNMTs)-1 and 3a- in Chinese children. We genotyped 5 SNPs (rs16999593, rs16999358, and rs2228611 in DNMT1; and rs2276599 and rs2276598 in DNMT3A) in 206 patients with complete TGA and 252 healthy children. Statistical analysis was performed to explore the association of the 5 SNPs with complete TGA susceptibility. Compared with the T/T and C/C genotypes, the heterozygous genotype C/T of rs16999593 correlated with a decreased risk for complete TGA under codominant (OR=0.46; 95% CI=0.29-0.72), dominant (OR=0.58; 95% CI=0.38-0.88), and overdominant (OR=0.44; 95% CI=0.28-0.68) models. In contrast, the genotype C/C of rs16999593 correlated with a higher risk for TGA under a recessive model (OR=3.15; 95% CI=1.14-8.68) compared with the T/T and C/T genotypes. Furthermore, the TGC, TGT, CGC, and CGT haplotypes of DNMT1 did not differ significantly between the two groups, whereas the frequency of the TAC haplotype was lower in the case group (OR<1; P=0.002). No significant differences in the frequencies of the TC, CC, TT, and CT haplotypes of DNMT3A were found between the two groups. Furthermore, logistic regression showed that sex and the rs16999358 SNP were two independent risk factors for complete TGA. Overall, the C/T genotype of the rs16999593 SNP in DNMT1 might decrease the risk of complete TGA pathogenesis in the Southern Chinese population.
PMID
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Authors

Mayor MeshTerms

Polymorphism, Single Nucleotide

Keywords

Complete transposition of the great arteries

DNA methylation

DNA methyltransferases

Gene polymorphisms

Real-time qPCR

Journal Title gene
Publication Year Start




PMID- 28323001
OWN - NLM
STAT- MEDLINE
DA  - 20170321
DCOM- 20170413
LR  - 20170413
IS  - 1879-0038 (Electronic)
IS  - 0378-1119 (Linking)
VI  - 615
DP  - 2017 Jun 05
TI  - DNA methyltransferase 1 rs16999593 genetic polymorphism decreases risk in
      patients with transposition of great arteries.
PG  - 50-56
LID - S0378-1119(17)30170-1 [pii]
LID - 10.1016/j.gene.2017.03.012 [doi]
AB  - Complete transposition of the great arteries (TGA) is the most frequent cyanotic 
      heart defect diagnosed in neonates. However, the exact etiology of TGA is
      unknown. The aim of the present study was to assess the association of TGA
      pathogenesis with single nucleotide polymorphisms (SNPs) in DNA
      methyltransferases (DNMTs)-1 and 3a- in Chinese children. We genotyped 5 SNPs
      (rs16999593, rs16999358, and rs2228611 in DNMT1; and rs2276599 and rs2276598 in
      DNMT3A) in 206 patients with complete TGA and 252 healthy children. Statistical
      analysis was performed to explore the association of the 5 SNPs with complete TGA
      susceptibility. Compared with the T/T and C/C genotypes, the heterozygous
      genotype C/T of rs16999593 correlated with a decreased risk for complete TGA
      under codominant (OR=0.46; 95% CI=0.29-0.72), dominant (OR=0.58; 95%
      CI=0.38-0.88), and overdominant (OR=0.44; 95% CI=0.28-0.68) models. In contrast, 
      the genotype C/C of rs16999593 correlated with a higher risk for TGA under a
      recessive model (OR=3.15; 95% CI=1.14-8.68) compared with the T/T and C/T
      genotypes. Furthermore, the TGC, TGT, CGC, and CGT haplotypes of DNMT1 did not
      differ significantly between the two groups, whereas the frequency of the TAC
      haplotype was lower in the case group (OR&lt;1; P=0.002). No significant differences
      in the frequencies of the TC, CC, TT, and CT haplotypes of DNMT3A were found
      between the two groups. Furthermore, logistic regression showed that sex and the 
      rs16999358 SNP were two independent risk factors for complete TGA. Overall, the
      C/T genotype of the rs16999593 SNP in DNMT1 might decrease the risk of complete
      TGA pathogenesis in the Southern Chinese population.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Lei, Liming
AU  - Lei L
AD  - Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute,
      Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of 
      South China Structural Heart Disease, Guangzhou 510080, China.
FAU - Lin, Haoming
AU  - Lin H
AD  - Department of Biliary-Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun
      Yat-sen University, Guangzhou 510120, China.
FAU - Zhong, Shilong
AU  - Zhong S
AD  - Medical Research Center of Guangdong General Hospital, Guangdong Academy of
      Medical Sciences, Guangzhou 510080, China.
FAU - Zhang, Zhiwei
AU  - Zhang Z
AD  - Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General
      Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
FAU - Chen, Jimei
AU  - Chen J
AD  - Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute,
      Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of 
      South China Structural Heart Disease, Guangzhou 510080, China.
FAU - Yu, Xiyong
AU  - Yu X
AD  - Department of Biliary-Pancreatic Surgery, Sun Yat-sen Memorial Hospital, Sun
      Yat-sen University, Guangzhou 510120, China.
FAU - Liu, Xiaoqing
AU  - Liu X
AD  - Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute,
      Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of 
      South China Structural Heart Disease, Guangzhou 510080, China.
FAU - Zhang, Cheng
AU  - Zhang C
AD  - Department of Pediatrics of Guangdong Cardiovascular Institute, Guangdong General
      Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
FAU - Nie, Zhiqiang
AU  - Nie Z
AD  - Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute,
      Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of 
      South China Structural Heart Disease, Guangzhou 510080, China.
FAU - Zhuang, Jian
AU  - Zhuang J
AD  - Department of Cardiovascular Surgery of Guangdong Cardiovascular Institute,
      Guangdong General Hospital, Guangdong Academy of Medical Sciences, Laboratory of 
      South China Structural Heart Disease, Guangzhou 510080, China. Electronic
      address: [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170316
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - EC 2.1.1.37 (DNA (Cytosine-5-)-Methyltransferase)
RN  - EC 2.1.1.37 (DNA (cytosine-5-)-methyltransferase 1)
SB  - IM
MH  - Asian Continental Ancestry Group
MH  - Case-Control Studies
MH  - Child
MH  - DNA (Cytosine-5-)-Methyltransferase/*genetics
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Linkage Disequilibrium
MH  - Logistic Models
MH  - Male
MH  - *Polymorphism, Single Nucleotide
MH  - Transposition of Great Vessels/*genetics
OTO - NOTNLM
OT  - Complete transposition of the great arteries
OT  - DNA methylation
OT  - DNA methyltransferases
OT  - Gene polymorphisms
OT  - Real-time qPCR
EDAT- 2017/03/23 06:00
MHDA- 2017/04/14 06:00
CRDT- 2017/03/22 06:00
PHST- 2016/10/21 [received]
PHST- 2017/03/09 [revised]
PHST- 2017/03/15 [accepted]
AID - S0378-1119(17)30170-1 [pii]
AID - 10.1016/j.gene.2017.03.012 [doi]
PST - ppublish
SO  - Gene. 2017 Jun 5;615:50-56. doi: 10.1016/j.gene.2017.03.012. Epub 2017 Mar 16.

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