Investigation of lncRNA PART1 SNP (rs8176070) polymorphism in Turkey knee osteoarthritis patient population by DNA sequence analysis

PİŞKİN İ., Akcan G., Firat A., TUFAN A. Ç.

Human Gene, vol.38, 2023 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 38
  • Publication Date: 2023
  • Doi Number: 10.1016/j.humgen.2023.201224
  • Journal Name: Human Gene
  • Journal Indexes: Scopus
  • Keywords: DNA sequencing, Knee OA, LncRNA PART1, PCR, RFLP, SNP (rs8176070)
  • Ankara Yıldırım Beyazıt University Affiliated: Yes

Abstract

Osteoarthritis (OA) is a chronic disease characterised by cartilage degradation, synovial inflammation, subchondral bone remodelling, and osteophyte formation. The aim of this knee OA-control study was to investigate the association between a single nucleotide polymorphism (SNP) (rs8176070) of the long non-coding RNA gene (lncRNA) PART1 and knee OA in the Turkish population. The study population consisted of 102 knee OA and 81 controls. We isolated genomic DNA from peripheral blood and performed PCR-RFLP reactions for genotyping of lncRNA PART1. Sanger DNA sequencing was used to genotype the groups. The results showed that the mean age and gender of the knee OA group were significantly higher than those of the control group (p < 0.05). Body mass index (BMI) and Western Ontario and McMaster Universities Arthritis Index (WOMAC) scores were also higher in the case group than in the control group (p ≤ 0.001). However, no significant association was found between the lncRNA SNP PART1 (rs8176070) and knee OA for genotypes BB, Bb, and bb (p > 0.05). Further studies with larger populations and more SNPs associated with OA may be needed to demonstrate a positive association.