Núñez Concepción, López-Mejías Raquel, Martínez Alfonso, García-Rodríguez M Cruz, Fernández-Arquero Miguel, de la Concha Emilio G, Urcelay Elena
Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain.
BMC Med Genet. 2006 Mar 15;7:25. doi: 10.1186/1471-2350-7-25.
The 1858C/T SNP of the PTPN22 gene has been associated with many autoimmune diseases, suggesting the existence of an inflammatory process common to all of them. We studied the association of that polymorphism with immunoglobulin A deficiency (IgAD) following a double approach: a case-control and a TDT study.
A total of 259 IgAD patients and 455 unrelated matched controls, and 128 families were used for each approach. Comparisons were performed using Chi-Square tests or Fisher's exact test when necessary.
No association between the PTPN22 1858C/T SNP and IgA deficiency was found in any case (allelic frequencies 8% vs. 6% in patients and controls, respectively, OR= 1.14 (0.72-1.79), p= 0.56; TDT p = 0.08).
The result obtained seems to reinforce the consideration of IgA deficiency as a primary immunodeficiency rather than an autoimmune disease.
蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因的1858C/T单核苷酸多态性（SNP）与多种自身免疫性疾病相关，提示这些疾病存在共同的炎症过程。我们采用病例对照研究和传递不平衡检验（TDT）两种方法，研究该多态性与免疫球蛋白A缺乏症（IgAD）的关联。
每种方法分别纳入259例IgAD患者、455例无关的匹配对照以及128个家庭。必要时采用卡方检验或Fisher精确检验进行比较。
在任何情况下，均未发现PTPN22 1858C/T SNP与IgA缺乏之间存在关联（患者和对照的等位基因频率分别为8%和6%，优势比（OR）=1.14（0.72 - 1.79），p = 0.56；TDT p = 0.08）。
所得结果似乎进一步支持将IgA缺乏视为原发性免疫缺陷而非自身免疫性疾病的观点。
