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Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility

Ren Yu Guo, Xiao Feng Li, Song Bai, Jian Guo, Nan Ding, Zhong Zhi Li

Cardiac Center, Beijing Children’s Hospital affiliated to Capital Medical University, Beijing, China (mainland)

Med Sci Monit 2015; 21:3536-3539

DOI: 10.12659/MSM.894830

Available online:

Published: 2015-11-16

BACKGROUND: The objective of this study was aimed to detect the association of Down syndrome critical region 1 (DSCR1) gene polymorphisms (rs149048873 and rs143081213) and congenital heart disease (CHD) susceptibility.
MATERIAL AND METHODS: This case-control study included 102 CHD patients and 113 healthy controls. Cases and controls were matched in age and gender. Genotypes of DSCR1 gene polymorphisms were detected by TaqMan method in cases and controls. Hardy-Weinberg equilibrium (HWE) examination was performed by PLINK 1.0 software. Chi square test was utilized to assess the distribution of the genotypes and the alleles. Relative risk of CHD was presented by odds ratios (ORs) with 95% confidence intervals (CIs). All of the calculations were implemented using SPSS 18.0.
RESULTS: Variant genotype distribution of rs149048873 and rs143081213 mutations were higher in cases than in controls, but the differences were not statistically obvious (P>0.05). Additionally, frequencies of mutant allele of the two polymorphisms were also significantly different in case and control groups (P>0.05).
CONCLUSIONS: No significant associations existed between DSCR1 gene rs149048873 and rs143081213 polymorphisms and CHD susceptibility.

Keywords: Asian Continental Ancestry Group - genetics, Alleles, Case-Control Studies, Child, Child, Preschool, China, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Heart Defects, Congenital - genetics, Infant, Newborn, Intracellular Signaling Peptides and Proteins - genetics, Muscle Proteins - genetics, Mutation, Odds Ratio, Polymorphism, Single Nucleotide