Genetics of ankylosing spondylitis

被引：9

作者：

Castro-Santos, Patricia ^{[1
]}

Gutierrez, Miguel A. ^{[2
]}

Diaz-Pena, Roberto ^{[1
]}

机构：

[1] Univ Autonoma Chile, Fac Ciencias Salud, Talca, Chile

[2] Pontificia Univ Catolica Chile, Fac Med, Dept Inmunol Clin & Reumatol, Santiago, Chile

来源：

REVISTA MEDICA DE CHILE | 2014年 / 142卷 / 09期

关键词：

Genetic predisposition to disease; HLA-B27; antigen; Spondylitis; ankylosing; RETICULUM AMINOPEPTIDASE 1; ENDOPLASMIC-RETICULUM; CHLAMYDIA-TRACHOMATIS; HLA-B27; HOMODIMERS; PRESENTED PEPTIDES; ASSOCIATION; RECEPTOR; SUBTYPES; SUSCEPTIBILITY; IDENTIFICATION;

D O I：

10.4067/S0034-98872014000900011

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Ankylosing spondylitis (AS) is a prototypical inflammatory disease of the.. locomotor system affecting axial skeleton. It is part of the general group of spondyloarthopathies (SpA). Its strong association with histocompatibility antigen HLA-B27 is known since 1973. However, HLA-B27 contribution to AS genetic risk is approximately 16%. Therefore, other genes are necessarily involved in the pathogenesis of the disease. Genomic development and the possibility of making genome wide screening have contributed enormously to the study of the disease. In this paper, we describe the actual knowledge about AS genetic risk, which has contributed to understand the influence of HLA-B27 on the etiology and pathogenesis of the disease. We also intend to foresee how these findings will result in an improvement of patients' quality of life.

引用

页码：1165 / 1173

页数：9

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