西班牙乳糜泻患者中HLA - DQA10501和DQB102纯合性与疾病易感性

HLA-DQA10501 and DQB102 homozygosity and disease susceptibility in Spanish coeliac patients.

作者信息

Arranz E, Telleria J J, Sanz A, Martin J F, Alonso M, Calvo C, Blanco-Quirós A

机构信息

University of Valladolid, Department of Paediatrics, Valladolid, Spain.

出版信息

Exp Clin Immunogenet. 1997;14(4):286-90.

PMID:9523165

Abstract

Coeliac disease (CD) susceptibility is strongly associated with HLA-DQA10501 and DQB102 alleles. There are discordant reports on whether homozygosity increases the risk. We genotyped HLA-DQA10501 and DQB102 in 50 CD patients, 100 parents, and 50 controls. Most patients (96%) were positive for DQA10501 (RR = 18.07, p < 0.001), 94% for DQB102 (RR = 17.55, p < 0.001), and 92% for both alleles together (RR = 31.82, p < 0.001). DQA10501 was found in 52% of controls, DQB102 in 44%, and only 24% had both alleles. Patients homozygosity or heterozygosity was estimated by assessing-in each case-whether one or both parents were carriers of the allele of risk. The frequencies of parents both positive for DQA10501 (58%) and for DQB102 (53.1%) were higher than expected by the fact that the proband is a carrier. These findings suggest that the frequency of homozygosity is increased among CD patients, and therefore, homozygosity for either DQA10501 or DQB102 represents a risk factor added to the fact of being a carrier.

摘要

乳糜泻（CD）易感性与HLA - DQA10501和DQB102等位基因密切相关。关于纯合性是否会增加风险，存在不一致的报道。我们对50例CD患者、100名父母和50名对照进行了HLA - DQA10501和DQB102基因分型。大多数患者（96%）DQA10501呈阳性（相对危险度RR = 18.07，p < 0.001），94%的患者DQB102呈阳性（RR = 17.55，p < 0.001），92%的患者两个等位基因均呈阳性（RR = 31.82，p < 0.001）。在52%的对照中发现了DQA10501，44%的对照中发现了DQB102，只有24%的对照同时拥有这两个等位基因。通过评估每种情况下父母一方或双方是否为风险等位基因携带者来估计患者的纯合性或杂合性。父母双方DQA10501均为阳性（58%）和DQB102均为阳性（53.1%）的频率高于先证者为携带者这一事实所预期的频率。这些发现表明，CD患者中纯合性频率增加，因此，DQA10501或DQB102的纯合性是作为携带者这一事实之外的一个风险因素。