Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital, Chang-Gung University College of Medicine, Kaohsiung, Taiwan.
Int J Rheum Dis. 2013 Feb;16(1):81-7. doi: 10.1111/1756-185X.12011. Epub 2012 Oct 20.
Ankylosing spondylitis (AS) is a chronic rheumatic disorder with gender differences. The aim of study was to investigate the association between polymorphisms of the androgen receptor (AR) gene and the susceptibility to AS in Taiwanese men of Han Chinese descent.
We conducted a case-control study with 92 male AS patients and 108 healthy controls. Trinucleotide (CAG and GGC) repeats and seven single nucleotide polymorphisms (SNPs) rs962458, rs6152, rs1204038, rs5918757, rs2361634, rs6624304 and rs1337080 in the AR gene were genotyped.
We found that only one patient had polymorphic SNPs of the AR gene. None of the genotyped SNPs in the AR gene, originally found in Caucasians, was polymorphic in the Taiwanese men. Neither CAG nor GGC repeat lengths in the AR gene had a significant relationship with human leukocyte antigen (HLA)-B27 positivity or disease severity in AS.
There were no differences in CAG and GGC lengths in the AR gene between AS and the controls. None of the genotyped SNPs in AR gene are detected to be polymorphic in male Taiwanese, which indicates that the effect of AR gene on AS may be ethnic-specific and may be conserved in East Asians compared to Caucasian populations. Still, additional studies using large sets of subjects deserve further attention, since our sample size was small with limited statistical power and supporting evidence for association between the AR gene and AS risk in the Japanese population exists.
强直性脊柱炎（AS）是一种具有性别差异的慢性风湿性疾病。本研究旨在探讨雄激素受体（AR）基因多态性与台湾汉族男性易患 AS 的相关性。
我们进行了一项病例对照研究，共纳入 92 例男性 AS 患者和 108 例健康对照者。检测 AR 基因中的三核苷酸（CAG 和 GGC）重复序列和 7 个单核苷酸多态性（SNP）rs962458、rs6152、rs1204038、rs5918757、rs2361634、rs6624304 和 rs1337080。
我们发现只有 1 例患者存在 AR 基因多态性 SNP。在台湾男性中，最初在高加索人群中发现的 AR 基因中的任何 SNP 均未表现出多态性。AR 基因中的 CAG 或 GGC 重复长度与人类白细胞抗原（HLA）-B27 阳性或 AS 疾病严重程度均无显著关系。
AS 患者与对照组之间 AR 基因的 CAG 和 GGC 长度无差异。在台湾男性中，未检测到 AR 基因中任何 SNP 是多态性的，这表明 AR 基因对 AS 的影响可能具有种族特异性，并且与高加索人群相比，在东亚人群中可能是保守的。然而，由于我们的样本量较小，统计效力有限，并且在日本人群中存在 AR 基因与 AS 风险之间关联的支持证据，因此使用大样本量的研究值得进一步关注。
