Ruiz M Y, Olivares J L
Department of Paediatrics, University Hospital Lozano Blesa, University of Zaragoza Medical School, Spain.
Am J Gastroenterol. 2001 May;96(5):1455-9. doi: 10.1111/j.1572-0241.2001.03798.x.
The aim of this study was to compare the linkage disequilibrium parameters and the frequencies of the three-loci HLA haplotypes in children with celiac disease and in a control population within the same geographical area.
A total of 38 celiac children were studied. HLA typing was performed by microlymphocytotoxicity assay using T and B cells separated by monoclonal antibody labeled immunomagnetic particles (IMB). Three-loci haplotype frequency (pABC) depend on each gene frequency (pA, pB, and pC), and a correction factor (delta) and takes the form: pABC = pA x pB x pC + delta ABC. The existence of a linkage disequilibrium was assessed by chi2 test using 2 x 2 x 2 contingency tables for gametic association.
There was a higher frequency of A1/B8/Cw7, A1/B8/DR3, A1/B8/DQ2, A19/B12/DQ2, B8/Cw7/DR3, B8/Cw7/DQ2, B8/DR3/DQ2, and B12/DR7/DQ2 in celiac children than in the control population.
From the comparative study of celiac and healthy population within the same area, we conclude that these three-loci haplotypes could determine genetic susceptibility to celiac disease.
本研究旨在比较乳糜泻患儿与同一地理区域内对照人群的连锁不平衡参数及三位点 HLA 单倍型频率。
共研究了 38 例乳糜泻患儿。采用单克隆抗体标记免疫磁珠（IMB）分离 T 细胞和 B 细胞，通过微量淋巴细胞毒性试验进行 HLA 分型。三位点单倍型频率（pABC）取决于各基因频率（pA、pB 和 pC）以及一个校正因子（δ），其形式为：pABC = pA × pB × pC + δABC。通过使用 2×2×2 列联表进行配子关联的卡方检验评估连锁不平衡的存在。
乳糜泻患儿中 A1/B8/Cw7、A1/B8/DR3、A1/B8/DQ2、A19/B12/DQ2、B8/Cw7/DR3、B8/Cw7/DQ2、B8/DR3/DQ2 和 B12/DR7/DQ2 的频率高于对照人群。
通过对同一区域内乳糜泻患者和健康人群的比较研究，我们得出结论，这些三位点单倍型可能决定对乳糜泻的遗传易感性。
