A functional <it>PTPN22 </it>polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population

• Main Authors: Fernández-Arquero Miguel (Author), García-Rodríguez M Cruz (Author), Martínez Alfonso (Author), López-Mejías Raquel (Author), Núñez Concepción (Author), de la Concha Emilio G (Author), Urcelay Elena (Author)
• Format: Book
• Published: BMC, 2006-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1471-2350-7-25; 1471-2350
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genetics, Vol 7, Iss 1, p 25 (2006)

<p>Abstract</p> <p>Background</p> <p>The 1858C/T SNP of the <it>PTPN22 </it>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>No association between the <it>PTPN22 </it>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).</p> <p>Conclusion</p> <p>The result obtained seems to reinforce the consideration of IgA deficiency as a primary immunodeficiency rather than an autoimmune disease.</p>