Research Papers:

Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility

Yuqiang Ji, Yanbin Song, Qingwen Wang, Pengcheng Xu, Zhao Zhao, Xia Li, Nan Wang, Tianbo Jin _ and Chao Chen

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Oncotarget. 2017; 8:59397-59407. https://doi.org/10.18632/oncotarget.19720

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Yuqiang Ji1,2,3,*, Yanbin Song1,2,4,*, Qingwen Wang5, Pengcheng Xu5, Zhao Zhao3, Xia Li3, Nan Wang3, Tianbo Jin1,2 and Chao Chen1,2

1Key Laboratory of Resource Biology and Biotechnology in Western China, Northwest University, Ministry of Education, Xi’an, Shaanxi 710069, China

2School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China

3Department of Cardiovascular Medicine, First Hospital of Xi’an, Xi’an 710002, China

4Department of Cardiovascular Medicine, Affiliated Hospital Yan’an University, Yan’an 716000, China

5Department of Hand Surgery, Hebei Province Cangzhou Hospital of integrated Traditional and Western Medicine, Cangzhou, Hebei 061001, China

*These authors have contributed equally to this work

Correspondence to:

Tianbo Jin, email: [email protected]

Chao Chen, email: [email protected]

Keywords: coronary artery disease, SH2B3, SMARCA4, single nucleotide polymorphism, gene

Received: February 06, 2017    Accepted: June 03, 2017    Published: July 31, 2017


To determine whether sex differences affect the association between genetic polymorphisms and coronary artery disease (CAD) in the Chinese Han population, we conducted a study comparing the frequency of SH2B3 and SMARCA4 variants in 456 CAD patients (291 men, 165 women) and 685 age-matched controls (385 men, 300 women). Ten single nucleotide polymorphisms (SNPs) in SH2B3 and SMARCA4 were genotyped using MassARRAY technology. Allelic and genotypic models and haplotype frequencies were compared between groups. Logistic regression was used to estimate the CAD risk associated with the genotypes. We found that the “A” alleles in both rs11879293 and rs12232780 of SMARCA4 were associated with CAD risk in men (p = 0.036 and p = 0.001, respectively). The genetic model showed that SH2B3 was associated with CAD susceptibility in both women and men, while SMARCA4 was associated with reduced odds of CAD in men. SH2B3 haplotypes were associated with decreased CAD risk in women (p = 0.007) and increased CAD risk in men (p = 0.047).By providing evidence for the sex-related association between SH2B3 and SMARCA4 gene variants and CAD susceptibility in the Chinese Han population, this study may help define useful diagnostic and preventive markers for these patients.

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