巴西一级亲属中的乳糜泻：HLA DQ2 纯合子的几率高出五倍。
Celiac Disease in Brazilian First-degree Relatives: The Odds Are Five Times Greater for HLA DQ2 Homozygous.
机构信息
Division of Pediatric Gastroenterology, Pediatric Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
出版信息
J Pediatr Gastroenterol Nutr. 2019 May;68(5):e77-e80. doi: 10.1097/MPG.0000000000002251.
First-degree relatives (FDRs) of 47 outpatients with celiac disease (CD) answered a questionnaire about symptoms related to CD and were investigated for human leukocyte antigen (HLA)-DQ2, DQB102 homozygosis, and DQ8 alleles. Genetically susceptible individuals were tested for antitransglutaminase antibody immunoglobulin A. Seropositive FDR underwent small bowel biopsies.From 114 FDR, 74.5% (n = 85) were positive for DQ2, DQ8, or both haplotypes. Homozygosity of DQB102 was found in 11.4% (n = 13) individuals. Three FDR were previously diagnosed with CD. Among the genetically susceptible individuals, 67.1% had at least 1 symptom related to CD. Seropositivity was 8/82 (9.8%), and 4/8 biopsies were compatible with CD. Therefore, the total number of FDR with CD was 6.1% (7/114), 95% confidence interval (1.71, 10.49). Three out of 7 FDR with CD were HLA DQB102 homozygous. The odds of being CD is 5 times, 95% confidence interval (0.99, 26.23), greater for HLA DQ B102 homozygous in FDR.
47 名乳糜泻患者的一级亲属（FDR）回答了一份与乳糜泻相关症状的问卷，并接受了人类白细胞抗原（HLA）-DQ2、DQB102 纯合子和 DQ8 等位基因的检查。遗传易感个体接受抗转谷氨酰胺酶抗体免疫球蛋白 A 检测。血清阳性的 FDR 进行小肠活检。
在 114 名 FDR 中，74.5%（n=85）为 DQ2、DQ8 或两者的单倍型阳性。11.4%（n=13）个体存在 DQB102 纯合子。3 名 FDR 之前被诊断为 CD。在遗传易感个体中，67.1%至少有 1 种与 CD 相关的症状。血清阳性率为 8/82（9.8%），8 例活检与 CD 相符。因此，FDR 中乳糜泻的总人数为 6.1%（7/114），95%置信区间（1.71，10.49）。7 名 CD FDR 中有 3 名 HLA DQB102 纯合子。HLA DQB102 纯合子的 FDR 患 CD 的几率为 5 倍，95%置信区间（0.99，26.23）。
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