主要组织相容性复合体(MHC),又称人类白细胞抗原(HLA),是人类基因组中遗传多样性最丰富的区域之一。人类MHC包含约400个基因,位于染色体区域6p21.3的短臂上,跨度约7.6 mb。根据NHGRI-EBI在HLA区域发表的全基因组关联研究目录(http://www.ebi.ac.uk/gwas/),已经确定了约200种性状或表型的500多种关联,包括原发性免疫缺陷、自身免疫性疾病、感染易感性、恶性肿瘤和精神疾病(Welter et al., 2014)。例如,多发性硬化与HLA-DRB1 * 1501有关(Handunnetthi et al., 2010);HIV病毒载量的控制与HLA-C附近的变异有关(Kulpa和Collins, 2011)。一些急性药物反应与特定的HLA等位基因有关。卡马西平诱导的Stevens-Johnson综合征和中毒性表皮坏死松解与汉族人群的HLA-B*1502和欧洲人群的HLA-A*3101密切相关(Chung等,2004;McCormack等人,2011)。HLA-B*13:01与麻风病患者氨苯砜过敏综合征的发生有关(Zhang et al., 2013)。
期刊介绍:
Journal of Investigative Dermatology Symposium Proceedings (JIDSP) publishes peer-reviewed, invited papers relevant to all aspects of cutaneous biology and skin disease. Papers in the JIDSP are often initially presented at a scientific meeting. Potential topics include biochemistry, biophysics, carcinogenesis, cellular growth and regulation, clinical research, development, epidemiology and other population-based research, extracellular matrix, genetics, immunology, melanocyte biology, microbiology, molecular and cell biology, pathology, pharmacology and percutaneous absorption, photobiology, physiology, and skin structure.