title: MTHFR gene C677T mutation and ACE gene I/D polymorphism in Turkish patients with osteoarthritis.
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.
authors.affiliation: Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Gaziosmanpaşa University, Tokat, Turkey. ainanir@gmail.com
authors.forename: Ahmet
authors.initials: A
authors.lastname: Inanir
authors.forename: Serbulent
authors.initials: S
authors.lastname: Yigit
authors.forename: Sengul
authors.initials: S
authors.lastname: Tural
authors.forename: Osman
authors.initials: O
authors.lastname: Cecen
authors.forename: Eren
authors.initials: E
authors.lastname: Yildirim
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D054458:Amplified Fragment Length Polymorphism Analysis; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D010003:Osteoarthritis / Q000201:enzymology / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A