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Postgrad Med J. 2019 May;95(1123):251-257. doi: 10.1136/postgradmedj-2018-136036. Epub 2019 Apr 16.

Genetic variation of rs7958311 in P2X7R gene is associated with the susceptibility and disease activity of ankylosing spondylitis.

Pan Z#1, Zhang X#2,3, Ma Y2,3, Xu S4, Shuai Z4, Pan F5,3, Sun G6.

Author information

1
Department of Medical Oncology, First Affiliated Hospital of Anhui Medical University, Hefei, China.
2
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China.
3
School of Public Health, The Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, Hefei, China.
4
Department of Rheumatism and Immunity, First Affiliated Hospital of Anhui Medical University, Hefei, China.
5
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, China famingpan@ahmu.edu.cn sunguoping@ahmu.edu.cn.
6
Department of Medical Oncology, First Affiliated Hospital of Anhui Medical University, Hefei, China famingpan@ahmu.edu.cn sunguoping@ahmu.edu.cn.
#
Contributed equally

Abstract

OBJECTIVES:

To describe association between the genetic variation of inflammation-associated gene, P2X7R, and ankylosing spondylitis (AS) susceptibility.

METHODS:

Four single nucleotide polymorphisms (SNPs) of P2 X 7 R gene were genotyped in 673 patients with AS and 687 healthy controls. Allele and genotype frequencies and different genetic models were performed to calculate ORs and 95% CIs, the demographic and clinical characteristics of patients were recorded. The data analyses were also conducted by sex.

RESULTS:

Compared with controls, genetic variation in rs7958311 but not the other three SNPs was statistically significant in female patients (χ2=6.907, p=0.032). Specifically, the P2 X 7 R gene rs7958311 polymorphism A allele showed a protective effect in AS susceptibility (OR=0.704, p=0.049, pFDR=0.061). In addition, female individuals with GA and/or AA genotypes had a lower risk of having AS compared with those with GG genotype (GA vs GG: OR=0.446, p=0.012, pFDR=0.030; AA vs GG: OR=0.440, p=0.039, pFDR=0.061; GA/AA vs GG: OR=0.445, p=0.009, pFDR=0.030). Furthermore, individuals with A allele (ie, GA/AA vs GG) had a higher disease activity, including Bath Ankylosing Spondylitis Disease Activity Index (overall: Z=- 2.630, p=0.014; male: Z=- 2.243, p=0.025), Schober test (overall: Z=- 3.041, p<0.001; male: Z=- 2.243, p=0.025) and chest expansion (overall: Z=- 3.895, p=0.004; male: Z=- 2.403, p=0.016).

CONCLUSION:

The allelic variation of rs7958311 SNP in P2X7R gene may have a protective effect on AS susceptibility in females and is associated with disease activity in male patients.

KEYWORDS:

AS; P2X7R; SNP; ankylosing spondylitis; gene

Conflict of interest statement

Competing interests: None declared.

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