Clinical Epidemiology Research Unit, Section of Musculoskeletal Diseases and Autoimmunity, Hospital de Especialidades Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Belisario Domínguez No. 1000, Col. Independencia, Guadalajara, Mexico.
Rheumatol Int. 2012 Aug;32(8):2565-8. doi: 10.1007/s00296-011-1997-5. Epub 2011 Jul 26.
The objective of this study was to evaluate the differences in allele and genotype frequencies of -383 tumor necrosis factor receptor 1 (TNFR1) polymorphism between ankylosing spondylitis (AS) and controls. Mexican Mestizos with AS were matched by gender, age, and ethnicity with healthy controls and compared in allele and genotype frequencies of the -383 TNFR1 polymorphism. Polymorphisms were genotyped using PCR-RFLP. The AA genotype occurred at a higher frequency in the AS group (92%) compared with controls (79%, P = 0.03). A allele was increased in AS (96% vs. 88%, P = 0.015) and was associated with genetic susceptibility for AS (odds ratio = 3.48, 95% CI = 1.23-10.61). This preliminary study is the first assessing the association of the -383 A/C TNFR1 polymorphism with AS, although it has the limitation of a small sample size. These data are of interest for the genetic epidemiology of AS in the Mexican population, requiring further investigation in other countries.
本研究旨在评估肿瘤坏死因子受体 1(TNFR1)-383 位多态性在强直性脊柱炎(AS)患者和对照组之间等位基因和基因型频率的差异。将 AS 患者与性别、年龄和种族相匹配的健康对照组进行比较,并比较 -383 TNFR1 多态性的等位基因和基因型频率。采用 PCR-RFLP 法进行多态性分型。与对照组(79%)相比,AS 组的 AA 基因型频率更高(92%,P=0.03)。AS 患者 A 等位基因增加(96% vs. 88%,P=0.015),与 AS 的遗传易感性相关(比值比=3.48,95%CI=1.23-10.61)。这项初步研究是首次评估 -383A/C TNFR1 多态性与 AS 的相关性,尽管其样本量较小存在局限性。这些数据对于墨西哥人群中 AS 的遗传流行病学具有重要意义,需要在其他国家进一步研究。