Characterization of soluble N-ethylmaleimide-sensitive factor attachment protein receptor gene STX18 variations for possible roles in congenital heart diseases.
Congenital heart disease (CHD) is among the most prevalent and complex congenital anatomic malformations in newborns. Interactions of cardiac progenitor with a broad range of cellular regulatory factors play key roles in the formation of mammalian heart and pathogenesis of CHD. STX18 is a soluble N-ethylmaleimide-sensitive factor attachment protein receptor, which is involved in numeral cellular activities such as organelle assembly and the cell cycle. The aim of this work was to find evidence on whether STX18 variations might be associated with CHD in Chinese Han populations. We evaluated SNPs rs2044, rs33952588, rs61740788, rs12504020 and rs12644497, which are located within the exon or intron sequences of the STX18 gene, for 310 Chinese Han CHD patients and 400 non-CHD controls. Using SPSS software (version 19.0) and the online software OEGE, we conducted statistical analyses and Hardy-Weinberg equilibrium test, respectively. Among the five SNPs identified in the STX18 gene, rs33952588 and rs61740788 had very low genetic heterozygosity. In contrast, the genetic heterozygosity of the remaining three variations rs12504020 and rs12644497 near the 5'UTR and rs2044 within 3'UTR of the STX18 gene was considerably high. Analysis of associations of these genetic variations with the risk of CHD showed that rs12644497 (P value=0.017<0.05) was associated with the risk of CHD, specifically VSD and ASD, whereas rs12504020 (P value=0.560>0.05) and rs2044 (P value=0.972>0.05) were not. The SNP rs12644497 in the STX18 gene was associated with CHD in Chinese Han populations.
Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China; Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China.
Xia
X
Li
Department of Cardiology of the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
Shuai
S
Shi
Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China; Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China. Electronic address: lff-1981@163.com.
Fei-Feng
FF
Li
Department of Cardiology of the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
Rui
R
Cheng
Department of Cardiology of the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
Ying
Y
Han
Department of Cardiology of the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Li-Wei
LW
Diao
Department of Antibiotics, Heilongjiang Province Food and Drug Inspection Testing Institute, Harbin, China.
Qiong
Q
Zhang
Department of Cardiology of the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China. Electronic address: Zhijixin23@163.com.
Ji-Xin
JX
Zhi
Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China; Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China; Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada. Electronic address: slliu@ucalgary.ca.
Shu-Lin
SL
Liu
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050765:Qa-SNARE Proteins / Q000235:genetics*; D052067:Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins / Q000235:genetics*
D050765:Qa-SNARE Proteins; D052067:Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins
Congenital heart disease; Human embryonic stem cells; SNP; STX18; VSD