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Association between MEFV polymorphisms and the susceptibility to ankylosing spondylitis in a Chinese Han population:

Jingtao Song1, Lei Zhao2, Jiaxun Jiao3

  • 1Second Department of Orthopedics, General Hospital of North China Petroleum Administration Bureau, Renqiu.

Medicine
|December 19, 2018
PubMed

Insights

The Mediterranean fever (MEFV) gene polymorphism rs3743930 is linked to ankylosing spondylitis (AS) susceptibility in the Chinese Han population. The G allele of rs3743930 may indicate a higher risk for developing AS.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
  • The Mediterranean fever (MEFV) gene is known for its role in autoinflammatory conditions.
  • Genetic factors are implicated in AS pathogenesis, but specific gene associations require further investigation.

Purpose of the Study:

  • To investigate the potential genetic association between MEFV gene polymorphisms (rs3743930 and rs11466023) and the susceptibility to ankylosing spondylitis (AS).
  • To analyze these associations within a Chinese Han population cohort.

Main Methods:

  • Genotyping of MEFV polymorphisms rs3743930 and rs11466023 was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
  • The study included 131 AS patients and 127 healthy controls from the Chinese Han population.
  • Statistical analyses, including Chi-square tests and calculation of odds ratios (OR) with 95% confidence intervals (CI), were used to compare genotype and allele frequencies.

Main Results:

  • A significantly higher frequency of the G allele for MEFV polymorphism rs3743930 was observed in the AS group compared to healthy controls (36.64% vs 28.35%, P < .05).
  • Individuals with the GG genotype of rs3743930 had a 2.896-fold increased risk of developing AS compared to those with the CC genotype (OR = 2.896, 95% CI = 1.115-7.519).
  • No significant differences in genotype or allele distributions were found for MEFV polymorphism rs11466023 between AS patients and controls (P > .05).

Conclusions:

  • The MEFV gene polymorphism rs3743930 is significantly associated with ankylosing spondylitis susceptibility in the Chinese Han population.
  • The G allele of MEFV rs3743930 may serve as a potential genetic marker for predicting high risk of AS.
  • MEFV rs11466023 did not show a significant association with AS susceptibility in this cohort.

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