强直性脊柱炎患者中ADA基因G22A多态性的关联性缺失。

Lack of association of the G22A polymorphism of the ADA gene in patients with ankylosing spondylitis.

作者信息

Camargo U, Toledo R A, Cintra J R, Nunes D P T, Acayaba de Toledo R, Brandão de Mattos C C, Mattos L C

机构信息

Pós-Graduação em Ciências da Saúde, Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brasil.

出版信息

Genet Mol Res. 2012 May 7;11(2):1178-84. doi: 10.4238/2012.May.7.3.

DOI:10.4238/2012.May.7.3

PMID:22614344

Abstract

Genes located outside the HLA region (6p21) have been considered as candidates for susceptibility to ankylosing spondylitis. We tested the hypothesis that the G22A polymorphism of the adenosine deaminase gene (ADA; 20q13.11) is associated with ankylosing spondylitis in 166 Brazilian subjects genotyped for the HLA27 gene (47 patients and 119 controls matched for gender, age and geographic origin). The HLA-B27 gene and the G22A ADA polymorphism were identified by PCR with sequence-specific oligonucleotide probes and PCR-RFLP, respectively. There were no significant differences in frequencies of ADA genotypes [odds ratio (OR) = 1.200, 95% confidence interval (CI) = 0.3102-4.643, P > 0.8] and ADA01 and ADA02 alleles (OR = 1.192, 95%CI = 0.3155-4.505, P > 0.8) in patients versus controls. We conclude that the G22A polymorphism is not associated with ankylosing spondylitis.

摘要

位于人类白细胞抗原（HLA）区域（6p21）之外的基因已被视为强直性脊柱炎易感性的候选基因。我们检验了如下假设：在166名针对HLA27基因进行基因分型的巴西受试者（47例患者和119名在性别、年龄和地理来源上匹配的对照）中，腺苷脱氨酶基因（ADA；20q13.11）的G22A多态性与强直性脊柱炎相关。分别通过序列特异性寡核苷酸探针PCR和PCR-RFLP鉴定HLA-B27基因和G22A ADA多态性。患者与对照之间ADA基因型频率[比值比（OR）=1.200，95%置信区间（CI）=0.3102 - 4.643，P>0.8]以及ADA01和ADA02等位基因频率（OR = 1.192，95%CI = 0.3155 - 4.505，P>0.8）均无显著差异。我们得出结论，G22A多态性与强直性脊柱炎无关。