Abstract
Background Osteoarthritis (OA) is a complex degenerative articular disease that has an ambiguous pathogeny
because variant risk factors participate in the process of cartilage deterioration. Genetic factors
may have a role in the onset and progression of OA.
Objective To investigate potential association between severity of knee OA (KOA) and Double von Willebrand
factor A domains DVWA rs11718863 gene polymorphism.
Methods One hundred and twenty Iraqi patients diagnosed with KOA, aged (45 years and above) and sixty
healthy people (control) at the same age range, with no family history of OA were evaluated at Al-
Imamein Al-Kadhimein Medical City (Rheumatology Department). The degree of severity of KOA
was assessed by clinical and radiographic assessment. DVWA rs11718863 genotyping was
performed using DNA sequencing (Sanger’s method).
Results Two different genotypes wild homozygote (TT) genotype and heterozygote (AT) appeared by
genotyping of DVWArs:11718863. Highly significant difference (p<0.001) was found in distribution
of the two genotypes in the three study groupsl the genotype (TT) was more frequent in control
group (95.0%). Also, high significant difference (p<0.001) was noted in the two alleles (A, T)
frequencies between control group and KOA patients group giving odd ratio 6.437 with 95%
confidence intervals of (1.93-21.42).
Conclusion Iraqi subjects carrying AT genotype of DVWA rs11718863 gene are mostly susceptible for
developing of KOA and the allele A of Tyr169Asn polymorphism are more frequent in those patients
indicating that allele A may be a risk factor of onset of this disease. Age and body mass index are
considered risk factors of onset and progression of KOA.
Keywords Double von Willebrand factor A domains (DVWA), single nucleotide polymorphism (SNP), body
mass index, Knee osteoarthritis, KOA
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2022
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