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MUTYH and ORAI1 polymorphisms are associated with susceptibility to osteoarthritis in the Chinese Han population

Shifeng Zhang1, Haohui Guo1, Da Chen1

  • 1Department of Orthopaedics, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.

The Journal of International Medical Research
|March 29, 2018
PubMed

Insights

Genetic variations in the mutY homolog (MUTYH) and calcium release-activated calcium channel (ORAI1) genes are linked to osteoarthritis risk in the Chinese Han population. Specific single nucleotide polymorphisms (SNPs) in MUTYH and ORAI1 increase susceptibility to this joint condition.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Osteoarthritis (OA) is a prevalent degenerative joint disease with complex etiology.
  • Genetic factors play a significant role in OA susceptibility.
  • The mutY homolog (MUTYH) and calcium release-activated calcium channel (ORAI1) genes are potential candidates influencing OA pathogenesis.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the MUTYH and ORAI1 genes and the risk of developing osteoarthritis.
  • To compare serum MUTYH levels between osteoarthritis patients and healthy controls.

Main Methods:

  • Case-control study involving 350 osteoarthritis patients and 350 healthy controls from the Chinese Han population.
  • Sanger sequencing was used to analyze specific SNPs in MUTYH (rs3219463) and ORAI1 (rs712853, rs12313273, rs6486795, rs12320939, rs7135617).
  • Serum MUTYH levels were quantified using enzyme-linked immunosorbent assay (ELISA).

Main Results:

  • Carriers of the MUTYH rs3219463 G allele (GG or GA genotypes) and ORAI1 rs7135617 T allele showed an increased risk of osteoarthritis.
  • Serum MUTYH levels were significantly elevated in the osteoarthritis group compared to the control group (22.05 ± 19.14 ng/mL vs. 14.15 ± 13.54 ng/mL).

Conclusions:

  • Specific SNPs in the MUTYH and ORAI1 genes are associated with an increased susceptibility to osteoarthritis in the Chinese Han population.
  • Elevated serum MUTYH levels may be a biomarker for osteoarthritis.
  • These findings contribute to understanding the genetic basis of osteoarthritis.

Keywords:
Chinese HanMUTYHORAI1OsteoarthritisSanger sequencingsingle nucleotide polymorphisms

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