Affiliations: Department of Physical Medicine and Rehabilitation,
Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey | Department of Medical Biology, Faculty of Medicine,
Gaziosmanpaşa University, Tokat, Turkey | Department of Medical Biology, Section of Medical
Genetics, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey
Note: [] Corresponding author: Ahmet Inanir, Department of Physical
Medicine and Rehabilitation, Faculy of Medicine, Gazi Osmanpaşa
University, Tokat, Turkey. Tel.: +90 05383626473; E-mail: [email protected]
Abstract: Osteoarthritis is a degenerative joint disorder resulting in
destruction of articular cartilage, osteophyte formation, and subchondral bone
sclerosis. In recent years, numerous genetic factors have been identified and
implicated in osteoarthritis. The aim of the current study was to examine the
influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation
and angiotensin converting enzyme (ACE) gene insertion/deletion (I/D)
variations on the risk of osteoarthritis. Genomic DNA is obtained from 421 persons (221 patients with
osteoarthritis and 200 healthy controls). ACE gene I/D polymorphism genotypes
were determined using polymerase chain reaction using I and D allele-specific
primers. The MTHFR C677T mutation was analyzed by polymerase chain reaction
(PCR) based restriction fragment length polymorphism (RFLP) methods. We found
significant difference between the groups with respect to both ACE and MTHFR
genotype distributions (p< 0.001, p< 0.001 respectively). Our study
suggests that ACE gene DD genotype and MTHFR gene CC genotype could be used as
genetic markers in osteoarthritis in Turkish study populations.
