Assessment of BMP-6 polymorphism and relationship with disease activity in Ankylosing Spondylitis patients


ÖZTOPUZ R. Ö. , SILAN F. , AKBAL A. , ÇOŞKUN Ö., ÖZDEMİR Ö.

JOURNAL OF BIOTECHNOLOGY, pp.23, 2016 (Journal Indexed in SCI)

  • Publication Type: Article / Abstract
  • Publication Date: 2016
  • Title of Journal : JOURNAL OF BIOTECHNOLOGY
  • Page Numbers: pp.23

Abstract

Ankylosing Spondylitis(AS) is a chronic, systemic inflammatory disease which lead to ossification of sacroiliac joint and other intervertebral joints thereby movement is restricted. BMP6(Bone Morphogenetic Protein 6) is a protein coding gene, induces cartilage and bone formation. BMPs are part of the transforming growth factor-beta (TGFB) superfamily. The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Single nucleotide polymorphisms (SNPs) within BMP6 gene associated with bone formation were selected. The aim of our study is to determine relationship between with BMP-6 polymorphisms (rs267192 and rs267196) and disease activity in AS patients in West Anatolia Turkish population.

Forty-two AS patients and 58 healthy controls were genotyped using real time PCR analysis for BMP-6 (rs267192 and rs267196) polymorphisms.

In this study, rs267196 polymorphism in the patient group is different compared to the control group, however, were observed to nonsignificant statistically. BMP6 rs267196 A allele carrier (versus T ancient allele) has 1.135-fold higher risk and rs267192 T allele carriers (versus C ancient allele) has 1.28-fold higher risk for AS. In terms of BMP6 gene of rs267192 allele, the frequency of the AA homozygote and AT heterozygote genotype (dominant model) of BMP6 gene (rs267196) were significantly higher in AS patients than controls (OR = 1.39).

BMP6 gene rs267196 genotype were more strongly associated with AS according to rs267192 polymorphism in Turkish population.