The Journal of Hip Surgery 2017; 01(01): 061-066
DOI: 10.1055/s-0036-1597968
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Risks of Factor V rs6020 or Methylenetetrahydrofolate Reductase rs12121543 Polymorphism with Hyperhomocysteinemia in the Development of Osteonecrosis of the Femoral Head

Meng-Ling Lu
1   Department of Orthopaedic Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
2   Department of Medicine, Chang Gung University, College of Medicine, Taoyuan, Taiwan
,
Pei-Hsun Sung
3   Division of Cardiology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
,
Tsan-Wen Huang
4   Department of Orthopaedic Surgery, Chiayi Chang Gung Memorial Hospital, Puzi City, Taiwan
,
Su-Chin Chen
1   Department of Orthopaedic Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
2   Department of Medicine, Chang Gung University, College of Medicine, Taoyuan, Taiwan
,
Rio Lin
1   Department of Orthopaedic Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
2   Department of Medicine, Chang Gung University, College of Medicine, Taoyuan, Taiwan
,
Hon-Kan Yip
3   Division of Cardiology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
,
Mel S. Lee
1   Department of Orthopaedic Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung City, Taiwan
2   Department of Medicine, Chang Gung University, College of Medicine, Taoyuan, Taiwan
› Author Affiliations
Further Information

Publication History

Publication Date:
31 March 2017 (online)

Abstract

The presence of single nucleotide polymorphisms (SNPs) associated with thrombophilia or hypofibrinolysis in Caucasian patients with osteonecrosis of the femoral head (ONFH) were reported to be irrelevant in the Asian populations. The purpose of this study was to explore the relationship between factor V rs6020 and methylenetetrahydrofolate reductase (MTHFR) rs12121543 by SNP assessment and serum homocysteine levels with the risk of ONFH development in Chinese population. From 2006 to 2013, 136 ONFH patients and 123 healthy controls were recruited. Serum homocysteine levels were measured in patients after a 12-hour fast. Genomic DNA from whole blood was used for genotyping of rs6020 and rs12121543 by MALDI-TOF (Matrix-Assisted Laser Desorption Inoization–Time of Flight Mass Spectrometry) on Brucker SNP Genotyping System (Bruker, Bremen, Germany). The odds ratio of the genotype between the ONFH patients and the control patients was analyzed using SPSS 13.0 for Windows (SPSS Inc.). A p < 0.05 was considered statistically significantly different. The G-to-A polymorphism in rs6020 had a higher risk (odds ratio: 6.91; 95% CI 3.68–12.99) than those without the polymorphism (wild type). The risk of ONFH was increased with MTHFR rs12121543 C-to-A polymorphism (odds ratio: 1.65; 95% CI 0.99–2.75). The presence of SNP in either factor V rs6020 or MTHFR rs12121543 was associated with increased risk of ONFH as compared with wild genotype patients (odds ratio 8.89; 95% CI 4.36–18.12). Patients with rs6020 polymorphism and concomitant hyperhomocysteinemia (> 12 μM) had significantly increased the risk of ONFH from 6.36- to 9.83-fold. The results of the study demonstrated that factor V rs6020 G-to-A polymorphism and MTHFR rs12121543 C-to-A polymorphism were significantly associated with the increased risk of ONFH development. Concomitant hyperhomocysteinemia and factor V rs6020 G-to-A polymorphism significantly increased the risk for the ONFH development in Chinese patients.