西班牙乳糜泻儿童和健康受试者的三位点HLA单倍型：连锁不平衡和单倍型频率的估计

Three-loci HLA haplotypes in Spanish celiac children and healthy subjects: estimation of linkage disequilibrium and haplotype frequencies.

作者信息

Ruiz M Y, Olivares J L

机构信息

Department of Paediatrics, University Hospital Lozano Blesa, University of Zaragoza Medical School, Spain.

出版信息

Am J Gastroenterol. 2001 May;96(5):1455-9. doi: 10.1111/j.1572-0241.2001.03798.x.

DOI:10.1111/j.1572-0241.2001.03798.x

PMID:11374682

Abstract

OBJECTIVES

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

目的

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。

方法

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。