墨西哥出生的原发性胆汁性肝硬化患者的人类白细胞抗原

Human leukocyte antigens among primary biliary cirrhosis patients born in Mexico.

作者信息

Vázquez-Elizondo Genaro, Ponciano-Rodríguez Guadalupe, Uribe Misael, Méndez-Sánchez Nahum

机构信息

Department of Biomedical Research, Medica Sur Clinic & Foundation, Mexico City, Mexico.

出版信息

Ann Hepatol. 2009 Jan-Mar;8(1):32-7.

PMID:19221531

Abstract

BACKGROUND AND AIM

Primary biliary cirrhosis (PBC) is a chronic cholestatic disease of autoimmune origin and has a genetic component. Although it has been reported that the prevalence of the HLA-DRB1*08 allele is high in various populations, the prevalence of HLA alleles in Mexican PBC patients has not been described. The aim of this study was to quantify the prevalence of HLA-B/-DR alleles in Mexican PBC patients.

MATERIALS AND METHODS

A case-control transversal study was performed during January and July 2008 with adult patients diagnosed with PBC. Cases were defined as subjects with PBC and controls were obtained from healthy subjects evaluated for bone marrow transplantation. Laboratory was performed at the moment of diagnosis. HLA-B/-DR allele frequency was obtained by gene counting and allele presence was determined by PCR-SSP procedure. Descriptive statistics between groups was evaluated by Chi-square with Yates correction.

RESULTS

Nine patients (seven females and two males, mean +/- SD age = 57.5 +/- 10.5 years) were studied. The most prevalent alleles were HLA-DRB101 (n = 4), DRB104 (n = 4), B39 (n = 34), B14 (n = 3), and B51 (n = 2). Linkage disequilibrium was detected for alleles HLA-B39/DRB104 (n = 3), HLA-B14/HLA-DRB101 (n = 2), and B51-DRB1*04 (n = 1).

IN CONCLUSION

Mexican PBC patients express genes of native and Mediterranean origin.

摘要

背景与目的

原发性胆汁性肝硬化（PBC）是一种自身免疫性起源的慢性胆汁淤积性疾病，具有遗传成分。尽管已有报道称HLA - DRB1*08等位基因在不同人群中的患病率较高，但墨西哥PBC患者中HLA等位基因的患病率尚未见描述。本研究的目的是量化墨西哥PBC患者中HLA - B/-DR等位基因的患病率。

材料与方法

2008年1月至7月对诊断为PBC的成年患者进行了一项病例对照横断面研究。病例定义为患有PBC的受试者，对照从接受骨髓移植评估的健康受试者中获取。在诊断时进行实验室检测。通过基因计数获得HLA - B/-DR等位基因频率，并通过PCR - SSP程序确定等位基因的存在。采用Yates校正的卡方检验评估组间描述性统计。

结果

研究了9例患者（7例女性和2例男性，平均±标准差年龄 = 57.5±10.5岁）。最常见的等位基因是HLA - DRB101（n = 4）、DRB104（n = 4）、B39（n = 34）、B14（n = 3）和B51（n = 2）。检测到HLA - B39/DRB104（n = 3）、HLA - B14/HLA - DRB101（n = 2）和B51 - DRB1*04（n = 1）等位基因存在连锁不平衡。