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PHACTR1 gene polymorphism with the risk of coronary artery disease in Chinese Han population
  1. Lishan Chen1,2,
  2. Hang Qian2,
  3. Zhihuan Luo2,
  4. Dongfeng Li2,
  5. Hao Xu2,
  6. Jishun Chen2,
  7. Peigen He2,
  8. Xintao Zhou2,
  9. Tao Zhang2,
  10. Jun Chen2,
  11. Xinwen Min2
  1. 1 Dongfeng Hospital Graduate Training Base, Jinzhou Medical University, Jinzhou, China
  2. 2 Department of Cardiology, Affiliated Dongfeng Hospital, Hubei University of Medicine, Shiyan, China
  1. Correspondence to Dr Xinwen Min, Department of Cardiology, Affliated Dongfeng Hospital, Hubei University of Medicine, Shiyan 442008, Hubei, China; minxinwen2018{at}


Background Coronary artery disease (CAD) is the most frequent multifactorial disease worldwide and is characterised by endothelial injury, lipid deposition and coronary artery calcification. The purpose of this study was to determine the allelic and genotypic frequencies of two loci (rs2026458 and rs9349379) of phosphatase and actin regulator 1 (PHACTR1) to the risk of developing CAD in the Chinese Han population.

Methods A case–control study was conducted including 332 patients with CAD and 119 controls. Genotype analysis was performed by PCR and Sanger sequencing. Genetic model analysis was performed to evaluate the association between single nucleotide polymorphisms and CAD susceptibility using Pearson’s χ2 test and logistic regression analysis.

Results The GG genotype of rs9349379 represented 50% and 29% of patients with CAD and controls, respectively (p<0.001). The CC genotype of rs2026458 was more prevalent in the controls than in patients with CAD compared with TT genotype (OR=0.548, 95% CI 0.351 to 0.856, p=0.008). Logistic regression analyses revealed that PHACTR1 rs9349379 GG genotype was significantly associated with increased risk of CAD in the recessive model (OR=2.359, 95% CI 1.442 to 3.862, p=0.001), even after adjusting for age gender, hypertension, type 2 diabetes, hyperlipidaemia and smoking habit. Heterogeneity test proved that rs9349379’s risk effects on CAD were more significant among women.

Conclusions Our study indicate that the PHACTR1 rs9349379 polymorphism is associated with the increased risk for CAD in the female Chinese Han population.

  • coronary artery disease
  • polymorphism
  • genotype

Statistics from


  • Contributors LC wrote the manuscript and analysed the data. HQ managed and checked the collected data. ZL created the charts and figures. DL and HX diagnosed the case at the outpatient clinic. JiC and PH performed coronary angiography. XZ and TZ were responsible for managing the patients. JuC performed the experimental work. XM planned the study and edited the manuscript. The final manuscript was read and approved by all authors.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Not required.

  • Ethics approval This study was approved by the institutional ethics committee of Dongfeng Hospital, and written informed consent was obtained from all the subjects before treatment.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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