Research Papers:

Association between EN1 rs4144782 and susceptibility of knee osteoarthritis: A case-control study

Li Haohuan _, Zhang Xiaolong, Cao Yiping, Hu Song, Peng Fei, Zhou Jianlin and Li Jianping

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Oncotarget. 2017; 8:36650-36657. https://doi.org/10.18632/oncotarget.16842

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Haohuan Li1, Xiaolong Zhang1, Yiping Cao2, Song Hu3, Fei Peng1, Jianlin Zhou1 and Jianping Li1

1Department of Orthopedics, Renmin Hospital of Wuhan University, Wuhan, 430060, China

2Key Laboratory of Optoelectronic Chemical Materials and Devices, Ministry of Education, Jianghan University, Wuhan, 430056, China

3Department of Physiology, Jianghan University, Wuhan Medical College, Wuhan, 430056, China

Correspondence to:

Haohuan Li, email: [email protected]

Keywords: osteoarthritis, EN1, polymorphism, BMD, case-control

Received: November 08, 2016     Accepted: March 10, 2017     Published: April 05, 2017


Osteoarthritis (OA) is a complex disease that affects the whole joint, resulting from the combined influence of biomechanical factors and genetic factors. The heritable component for primary OA accounts for about 60% of variation in population liability to the disease. So far, genome-wide association studies (GWAS) and candidate gene studies have established many OA-related loci. However, these findings account for only a rather small fraction of the genetic component. To further reveal the genetic architecture of OA, we conducted this case-control study to explore the association of locus EN1 rs4144782 and knee OA susceptibility in a Chinese population. EN1 rs4144782 was significantly associated with increased risk of knee OA (OR=1.26; 95% CI: 1.05-1.50, P value=0.012). In dominant model, compared with carriers of GG genotype, those with AG or AA genotype have an 1.44-fold increased risk of OA (OR: 1.44; 95% CI: 1.10-1.88; P value=0.008). Subgroup analyses didn’t change the results materially. This should be the first association study of EN1 locus on risk of OA, and our finding suggested that the EN1 rs4144782 might contribute to the susceptibility of knee OA.

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