Mahjoub S, Mehri S, Ghazouani E, Ouarda F, Boussada R, Zaroui A, Mechmeche R, Hammami M, Ben Arab S
Unité d'Epidémiologie Génétique et Moléculaire, Faculté de Médecine de Tunis, Tunis, Tunisia.
Tissue Antigens. 2010 Jun;75(6):679-83. doi: 10.1111/j.1399-0039.2009.01432.x. Epub 2010 Jan 28.
Cardiomyopathies (CMs) are primary disorders of cardiac muscle. They are a major cause of morbidity and mortality for all ages and, like acquired forms of cardiovascular disease, often result in heart failure. Molecular genetic studies have made remarkable progress in defining the pathogenesis of CM. The present study was the first report to evaluate the relationship between class II major histocompatibility complex (MHC) genes (HLA-DRB1 and HLA-DQB1) and the genetic susceptibility to primary dilated cardiomyopathy (DCM) in Tunisian patients. The human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed in 76 patients with primary DCM and 111 ethnically matched healthy controls using polymerase chain reaction-sequence specific primers technique. An increased frequencies of HLA-DRB10401 (OR = 2.67, P < 0.001), HLA-DQB10302 (OR = 3.28, P = 0.001) and HLA-DQB10401 (OR = 6.26, P = 0.005) alleles were found in the patients with primary DCM compared with healthy controls. Individuals with HLA-DRB11301 (OR = 0.24, P < 0.001) and HLA-DQB10201 (OR = 0.49, P = 0.002) alleles have a protective effect against primary DCM. Two haplotypes were associated with increased risk of primary DCM: DRB10401/DQB10302 (OR = 4.53, P = 0.002) and DRB10401/DQB1*0401 (OR = 9.42, P = 0.004). In conclusion, our data suggest that the variation in class II HLA alleles could be a genetic factor involved in the susceptibility to primary DCM in the Tunisian population.
心肌病（CMs）是心肌的原发性疾病。它们是各年龄段发病和死亡的主要原因，并且如同获得性心血管疾病一样，常常导致心力衰竭。分子遗传学研究在明确CM的发病机制方面取得了显著进展。本研究是评估II类主要组织相容性复合体（MHC）基因（HLA - DRB1和HLA - DQB1）与突尼斯患者原发性扩张型心肌病（DCM）遗传易感性之间关系的首份报告。采用聚合酶链反应 - 序列特异性引物技术，对76例原发性DCM患者和111例种族匹配的健康对照者的人类白细胞抗原（HLA） - DRB1和 - DQB1等位基因进行了分析。与健康对照相比，原发性DCM患者中HLA - DRB10401（比值比[OR]=2.67，P<0.001）、HLA - DQB10302（OR = 3.28，P = 0.001）和HLA - DQB10401（OR = 6.26，P = 0.005）等位基因频率增加。携带HLA - DRB11301（OR = 0.24，P<0.001）和HLA - DQB10201（OR = 0.49，P = 0.002）等位基因的个体对原发性DCM具有保护作用。两种单倍型与原发性DCM风险增加相关：DRB10401/DQB10302（OR = 4.53，P = 0.002）和DRB10401/DQB1*0401（OR = 9.42，P = 0.004）。总之，我们的数据表明II类HLA等位基因的变异可能是突尼斯人群原发性DCM易感性的一个遗传因素。
