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      https://www.ias.ac.in/article/fulltext/jgen/100/0026

    • Keywords

       

      ADP ribosylation factor-like protein 15; intronic SNP (rs255758); enzyme linked immune sorbent assay; genotype–phenotype correlation; rheumatoid arthritis.

    • Abstract

       

      ADP ribosylation factor like protein 15 (ARL15) was identified as a novel susceptibility gene for rheumatoid arthritis (RA) based on a genomewide association study in a north Indian cohort. Mechanism of its action and functional relevance in RA biology remain largely unknown. In this study, we aimed to establish (i) ARL15 protein level in sera samples of RA patients; and (ii) its correlation, if any, with the RA associated ARL15 intronic single-nucleotide polymorphism (SNP) rs255758 (A [C). DNA, RNA and sera were isolated fromblood samples of 117 RA patients and 25 age-matched healthy controls recruited at All India Institute of Medical Sciences, New Delhi with institutional ethical committee clearance. SNP rs255758 (A [C) was genotyped by Sanger sequencing; ARL15 RNA and protein levels were estimated by quantitative polymerase chain reaction (qPCR) and enzyme-linked immunosorbent assay (ELISA), respectively; and genotype–phenotype correlation established using Mann–Whitney nonparametric test. Very low level of ARL15 expression in human blood was confirmed at both RNA and protein levels. Genotype-wise distribution showed increased levels (P = 0.05) of ARL15 protein in RA patients with the homozygous variant (CC) as compared to AA ? AC genotypes of rs255758. This first-ever correlation between higher ARL15 protein levels and the intronic susceptibility genotype (CC; rs255758) in RA patients may be of diagnostic and therapeutic relevance encouraging additional investigations.

    • Author Affiliations

       

      ANUJ KUMAR PANDEY1 AISHWARYA SAXENA1 SANJAY KUMAR DEY2 3 MAUMITA KANJILAL4 UMA KUMAR4 B. K. THELMA1

      1. Department of Genetics, University of Delhi South Campus, New Delhi 110 021, India
      2. Department of Biochemistry, University of Delhi South Campus, New Delhi 110 021, India
      3. Dr. B. R. Ambedkar Center for Biomedical Research, University of Delhi, Delhi 110 007, India
      4. Department of Rheumatology, All India Institute of Medical Sciences, New Delhi 110 021, India
    • Dates

       
  • Journal of Genetics | News

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