Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
BMC Musculoskelet Disord. 2013 Jun 17;14:190. doi: 10.1186/1471-2474-14-190.
The human leukocyte antigen (HLA)-B27 gene is considered to be a major gene associated with predisposition to ankylosing spondylitis (AS); however, studies have demonstrated that non-HLA-B27 genes also contribute substantially to the susceptibility to AS. Two single nucleotide polymorphisms (SNPs), rs1004819 and rs10889677, of the interleukin-23 receptor (IL-23R) gene have been shown to be associated with AS susceptibility in European populations. However, ethnicity factors contribute to population splitting and genetic variation, and ethnic-specific genetic association studies are needed to validate these associations in patients from different ethnic backgrounds. This study therefore aimed to replicate the associations between these two SNPs and AS susceptibility in a Chinese Han population.
A total of 195 AS patients and 203 normal controls were recruited in this study. Two IL-23R gene SNPs, rs1004819 and rs10889677 were selected. Genotyping was performed in all subjects using the TaqMan probe method. Genotype and allele frequencies were compared between AS patients and normal controls by χ2 tests.
There were no significant differences in either the genotype frequencies (TT 36.4%, TC 48.7% and CC 14.9% in AS patients; TT 35.0%, TC 50.0% and CC 15.0% in normal controls) or allele frequencies (T 60.8% and C 39.2% in AS patients; T 60.0% and C 40.0% in normal controls) of rs1004819 between AS patients and normal controls (P > 0.05). In addition, both the genotype frequencies (AA 51.3%, AC 43.1% and CC 5.6% in AS patients; AA 57.6%, AC 35.5% and CC 6.9% in normal controls) and allele frequencies (A 72.8% and C 27.2% in AS patients; A 75.4% and C 24.6% in normal controls) of rs10889677 were also comparable between AS patients and normal controls (P > 0.05).
This study found no evidence for an association between either of the two previously identified AS-susceptibility IL-23R SNPs (rs1004819 and rs10889677) and onset of AS, indicating a possible difference in pathogenesis of AS between Chinese and European patients.
人类白细胞抗原（HLA）-B27 基因被认为是与强直性脊柱炎（AS）易感性相关的主要基因；然而，研究表明非 HLA-B27 基因也在很大程度上与 AS 的易感性相关。白细胞介素-23 受体（IL-23R）基因的两个单核苷酸多态性（SNP），rs1004819 和 rs10889677，已被证明与欧洲人群的 AS 易感性相关。然而，种族因素导致人群分裂和遗传变异，需要进行特定种族的遗传关联研究来验证这些关联在不同种族背景的患者中的适用性。因此，本研究旨在在中国汉族人群中复制这两个 SNP 与 AS 易感性之间的关联。
本研究共纳入 195 例 AS 患者和 203 例正常对照。选择两个 IL-23R 基因 SNP，rs1004819 和 rs10889677。使用 TaqMan 探针法对所有受试者进行基因分型。通过 χ2 检验比较 AS 患者和正常对照组的基因型和等位基因频率。
AS 患者的基因型频率（TT 36.4%、TC 48.7%和 CC 14.9%；TT 35.0%、TC 50.0%和 CC 15.0%）或等位基因频率（T 60.8%和 C 39.2%；T 60.0%和 C 40.0%）与正常对照组相比均无显著差异（均 P>0.05）。此外，rs1004819 的基因型频率（AS 患者 AA 51.3%、AC 43.1%和 CC 5.6%；正常对照组 AA 57.6%、AC 35.5%和 CC 6.9%）和等位基因频率（AS 患者 A 72.8%和 C 27.2%；正常对照组 A 75.4%和 C 24.6%）在 AS 患者和正常对照组之间也无显著差异（均 P>0.05）。
本研究未发现先前确定的与 AS 易感性相关的两个 IL-23R SNP（rs1004819 和 rs10889677）与 AS 发病之间存在关联的证据，这表明中国和欧洲患者的 AS 发病机制可能存在差异。
