Association between HRH4 polymorphisms and ankylosing spondylitis susceptibility
Bo Ran1, Yongcheng Wang2, Yonggang Zhang3
1Department of Orthopaedics, Chinese People's Liberation Army General HospitalBeijing 100853, China; Department of Orthopaedics, The Third Affiliated Hospital of Inner Mongolia Medical UniversityBaotou 014010, Inner Mongolia, China.
International Journal of Clinical and Experimental Pathology
|January 30, 2016
Summary
Genetic variations in the histamine H4 receptor (HRH4) rs657132 polymorphism, specifically the AA genotype and A-A haplotype, are associated with an increased susceptibility to ankylosing spondylitis (AS). These findings highlight HRH4
Area of Science:
- Genetics and Immunology
- Rheumatology
- Molecular Biology
Background:
- Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the axial skeleton.
- The role of genetic factors, including specific receptor polymorphisms, in AS pathogenesis requires further investigation.
- The histamine H4 receptor (HRH4) is implicated in immune responses and inflammation.
Purpose of the Study:
- To investigate the association between histamine H4 receptor (HRH4) gene polymorphisms and susceptibility to ankylosing spondylitis (AS).
- To analyze specific HRH4 polymorphisms (rs8088140 and rs657132) and their correlation with AS risk.
- To evaluate the potential role of HRH4 haplotypes in AS development.
Main Methods:
- Genotyping of HRH4 polymorphisms rs8088140 and rs657132 was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.
- Linkage disequilibrium and haplotype analyses were conducted using Haploview software.
- Statistical comparisons of allele, genotype, and haplotype frequencies between AS cases and controls were performed using the chi-squared (χ2) test, with controls matched for age and gender. Hardy-Weinberg equilibrium (HWE) was assessed for genotype distributions in controls.
Main Results:
- Genotype distributions for both rs8088140 and rs657132 polymorphisms in the control group adhered to Hardy-Weinberg equilibrium.
- A significantly higher frequency of the AA genotype for the HRH4 rs657132 polymorphism was observed in AS patients compared to controls (P=0.040).
- The A allele of rs657132 (Odds Ratio [OR]=2.572, 95% Confidence Interval [CI]=1.475-4.486, P=0.022) and the A-A haplotype (rs8088140-rs657132) (OR=2.071, 95% CI=1.172-3.660, P=0.011) were significantly associated with increased AS risk.
Conclusions:
- The AA genotype of the HRH4 rs657132 polymorphism is identified as a potential susceptibility factor for ankylosing spondylitis.
- The rs657132 polymorphism appears to play a role in the pathogenesis of AS.
- The A-A haplotype, encompassing rs8088140 and rs657132, also confers an elevated risk for developing AS.
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