gms | German Medical Science

Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2017)

24.10. - 27.10.2017, Berlin

Risks of factor V rs6020 or methylenetetrahydrofolate reductase rs12121543 polymorphism with hyperhomocysteinemia in the development of osteonecrosis of the femoral head

Meeting Abstract

  • presenting/speaker Mel Lee - Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, Kaohsiung, Taiwan
  • Chen-Ta Wu - Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, Kaohsiung, Taiwan
  • Pei-Hsun Sung - Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, Kaohsiung, Taiwan
  • Tsan-Wen Huang - Chia-Yi Chang Gung Memorial Hospital, Putzu, Chiayi, Taiwan
  • Ling-Chun Lin - Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, Kaohsiung, Taiwan
  • Kuo-Ti Peng - Chia-Yi Chang Gung Memorial Hospital, Putzu, Chiayi, Taiwan
  • Hon-Kan Yip - Kaohsiung Chang Gung Memorial Hospital, Chang Gung University, Kaohsiung, Taiwan

Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2017). Berlin, 24.-27.10.2017. Düsseldorf: German Medical Science GMS Publishing House; 2017. DocPO30-32

doi: 10.3205/17dkou890, urn:nbn:de:0183-17dkou8900

Veröffentlicht: 23. Oktober 2017

© 2017 Lee et al.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe http://creativecommons.org/licenses/by/4.0/.


Gliederung

Text

Objectives: 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 a Chinese population.

Methods: 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 subjects was analyzed using SPSS 13.0 for Windows (SPSS Inc. USA). A p-value less than 0.05 was considered statistically significantly different.

Results and Conclusion: The G-to-A polymorphism in rs6020 had a higher risk (odds ratio 6.91; 95% CI 3.68 to 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 to 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 subjects (odds ratio 8.89; 95% CI 4.36 to 18.12). Patients with rs6020 polymorphism and concomitant hyperhomocysteinemia (> 12 µM) had significantly increased the risk of ONFH from 6.36 fold 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.