古巴乳糜泻患者中的HLA DQA10501和DQB102

HLA DQA10501 and DQB102 in Cuban celiac patients.

作者信息

Cintado Alberto, Sorell Luis, Galván José A, Martínez Luis, Castañeda Carlos, Fragoso Trini, Camacho Hamlet, Ferrer Annia, Companioni Osmel, Benitez Jesús, Nazábal Marcelo, Novoa Lidia I, Dueñas Marta

机构信息

Department of Immunotechnology and Genomics, Center for Genetic Engineering and Biotechnology, Havana, Cuba.

出版信息

Hum Immunol. 2006 Aug;67(8):639-42. doi: 10.1016/j.humimm.2006.04.009. Epub 2006 May 22.

DOI:10.1016/j.humimm.2006.04.009

PMID:16916661

Abstract

Celiac disease (CD) susceptibility has been strongly associated with HLA-DQ2 and HLA-DQ8. The main objective of this study was to assess the distribution of HLA DQA10501 and DQB102 alleles (DQ2) for the first time in a group of Cuban celiac patients. We evaluated 22 patients, 54 first-degree relatives, and 60 controls for detection of antitissue transglutaminase (tTG)-specific antibodies in serum. We found that 100% of the probands and 19% of the first-degree relatives were positive for the antibodies in serum. We did not detect any specific response for the healthy control individuals. We observed a significant over-representation of DQ2 heterodimer, both in patients and relatives. In the group of patients, 86.3% were positive for DQA10501, 90.2% were positive for DQB102, and 86.3% were positive for both alleles. The frequencies in relatives and controls were as follows: 70%, 90%, and 70%; and 56.6%, 45%, and 20%, respectively. In conclusion, we found that the proportion of our celiac patients carrying DQ2 was similar to the proportion of CD patients reported in populations with different genetic backgrounds. These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease.

摘要

乳糜泻（CD）易感性与HLA - DQ2和HLA - DQ8密切相关。本研究的主要目的是首次评估一组古巴乳糜泻患者中HLA DQA10501和DQB102等位基因（DQ2）的分布情况。我们评估了22例患者、54名一级亲属和60名对照者血清中抗组织转谷氨酰胺酶（tTG）特异性抗体的检测情况。我们发现先证者血清中抗体阳性率为100%，一级亲属中为19%。健康对照个体未检测到任何特异性反应。我们观察到患者及其亲属中DQ2异二聚体均显著过度表达。在患者组中，DQA10501阳性率为86.3%，DQB102阳性率为90.2%，两个等位基因均阳性率为86.3%。亲属和对照组中的频率分别如下：70%、90%和70%；以及56.6%、45%和20%。总之，我们发现携带DQ2的乳糜泻患者比例与不同遗传背景人群中报道的CD患者比例相似。这些结果强调了HLA - DQ等位基因在乳糜泻易感性中的首要重要性。