Association of Polymorphisms in the Promoter Region of NOS2A Gene with Primary Knee Osteoarthritis in the Greek Population

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3189249 12 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Association of Polymorphisms in the Promoter Region of NOS2A Gene with
Primary Knee Osteoarthritis in the Greek Population
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Introduction
A new emerging role of nitric oxide (NO) in the aetiology of
osteoarthritis (OA) has been reported. Inducible NO synthase (iNOS),
produced by chondrocytes, is the major source of NO in the
osteoarthritic cartilage. The aim of this study is to evaluate the
potential association between the -1173C/T (rs9282799), -1026 C/A (rs
2779249) and -954G/C (rs1800482) single nucleotide polymorphisms (SNPs)
in the promoter of the iNOS gene (NOS2A) and the incidence of knee OA in
Greek population.
Methods
Ninety-six patients with primary knee OA were included in the study
along with 44 controls. Genotypes were identified using polymerase chain
reaction (PCR) and DNA sequencing techniques. Allelic and genotypic
frequencies were compared between patients and controls.
Results
None of the -1173C/T, -1026 C/A and -954G/C SNPs were detected in the
studied population, either in patients or controls. However, another SNP
was identified at the site -1056 at the promoter region, where the
initial G allele was substituted by the T allele. Interestingly, the TT
genotype was completely absent in controls, but was detected in six
patients with a 6.2% observed frequency. The difference between
patients and controls was not statistically significant (p-value =
0.18). In male OA patients, the observed frequency of the TT genotype
was higher (28.6%) in comparison to the 0% of the male controls
(p-value = 0.1). The frequency of the G allele was 0.82 in controls and
0.78 in OA patients (p-value = 0.53).
Conclusions
The present study demonstrates that the 954G/C, -1026C/A, -1056G/T and -
1173C/T SNPs of the NOS2A gene are not a risk factor for primary knee OA
in Greek population. Moreover, 954G/C, -1026C/A and -1173C/T are rare,
if not completely absent, in the Greek population. Additional research
is mandatory in order to investigate the association of these SNPs with
OA in different ethnic populations.
Έτος δημοσίευσης:
2020
Συγγραφείς:
Leonidou, Andreas
Lepetsos, Panagiotis
Kenanidis, Eustathios and
Macheras, George
Tzetis, Maria
Potoupnis, Michael
Tsiridis,
Eleftherios
Περιοδικό:
CUREUS
Εκδότης:
CUREUS INC
Τόμος:
12
Αριθμός / τεύχος:
1
Λέξεις-κλειδιά:
osteoarthritis; nitric oxide; single nucleotide polymorphism
Επίσημο URL (Εκδότης):
DOI:
10.7759/cureus.6780
Το ψηφιακό υλικό του τεκμηρίου δεν είναι διαθέσιμο.