Eller Elise, Vardi Pnina, Babu Sunanda R, Bugawan Teodorica L, Erlich Henry A, Yu Liping, Fain Pamela R
Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Aurora, Colorado 80045, USA.
Hum Immunol. 2006 Nov;67(11):940-50. doi: 10.1016/j.humimm.2006.08.293. Epub 2006 Sep 18.
We report the prevalence of celiac disease (CD) and its relationship with other autoimmune diseases and HLA haplotypes in a Bedouin kindred. Of 175 individuals sampled and typed for autoantibodies and HLA class II genotypes, six (3.4%) members had CD, and an additional 10 (5.7%) members tested positive for autoantibodies to transglutaminase (TgAA+). Several CD/TgAA+ relatives also had islet cell antigen or adrenal autoimmunity. Affected relatives are more closely related than expected from the pedigree relationships of all family members and were more often the offspring of consanguineous marriages. Individuals with CD or TgAA+ were enriched for DRB10301-DQA10501-DQB10201, a haplotype previously reported as high risk for CD. There was also an increased frequency of DQB10201/DQB10201 homozygotes among affected relatives. We found no evidence that DRB10701-DQA10201-DQB10201/DRB111-DQA10501-DQB1*0301 is a high-risk genotype, consistent with other studies of Arab communities. In addition, a nonparametric linkage analysis of 376 autosomal markers revealed suggestive evidence for linkage on chromosome 12p13 at marker D12S364 (NPL = 2.009, p = 0.0098). There were no other significant results, including the HLA region or any other previously reported regions. This could reflect the reduced power of family-based linkage and association analyses in isolated inbred populations.
我们报告了一个贝都因家族中乳糜泻（CD）的患病率及其与其他自身免疫性疾病和HLA单倍型的关系。在175名接受自身抗体检测和HLA II类基因型分型的个体中，有6名（3.4%）成员患有CD，另有10名（5.7%）成员抗转谷氨酰胺酶自身抗体检测呈阳性（TgAA+）。几位患有CD/TgAA+的亲属也存在胰岛细胞抗原或肾上腺自身免疫。患病亲属之间的亲缘关系比根据所有家庭成员的谱系关系预期的更为密切，并且他们更多是近亲结婚的后代。患有CD或TgAA+的个体中，DRB10301 - DQA10501 - DQB10201单倍型富集，该单倍型先前被报道为CD的高风险单倍型。在患病亲属中，DQB10201/DQB10201纯合子的频率也有所增加。我们没有发现证据表明DRB10701 - DQA10201 - DQB10201/DRB111 - DQA10501 - DQB1*0301是高风险基因型，这与对阿拉伯社区的其他研究结果一致。此外，对376个常染色体标记进行的非参数连锁分析显示，在12号染色体p13区域的标记D12S364处有连锁的提示性证据（NPL = 2.009，p = 0.0098）。没有其他显著结果，包括HLA区域或任何其他先前报道的区域。这可能反映了在隔离的近亲繁殖人群中基于家族的连锁和关联分析的效能降低。
