Schizophrenia (SZ), a neurodevelopmental disorder, is one of the most severe and common psychiatric conditions, affecting globally 1% of adult population. Stemming from complex gene-environment interactions, in a significant subset of patients, SZ is characterized by immune dysfunctions that include early inefficient anti-infectious responses as well disease-associated chronic low-grade inflammation and comorbid autoimmune conditions (1). In such intersections between infection, inflammation and autoimmunity, the key genetic platform for both innate and adaptive immune processes is the major histocompatibility complex (MHC) which encompasses the prominent human leukocyte antigen (HLA) region. The HLA system is the most polymorphic region of the human genome and its allelic diversity is essential for antigen presentation to immune effector cells and downstream humoral and cellular immune responses. Hence, characterizing the HLA allelic diversity allows not only to evaluate the potential genetic relationship between the HLA system and a given disease but also to understand its impact on pathophysiological processes (2).

中文翻译：

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精神分裂症中的 HLA 8.1 祖先单倍型：神经突触修剪和自身免疫的双重含义？

精神分裂症 (SZ) 是一种神经发育障碍，是最严重和最常见的精神疾病之一，影响全球 1% 的成年人口。由于复杂的基因-环境相互作用，在相当一部分患者中，SZ 的特点是免疫功能障碍，包括早期无效的抗感染反应以及疾病相关的慢性低度炎症和共病自身免疫病 (1)。在感染、炎症和自身免疫之间的这种交叉中，先天性和适应性免疫过程的关键遗传平台是主要组织相容性复合体 (MHC)，它包含突出的人类白细胞抗原 (HLA) 区域。HLA 系统是人类基因组中多态性最强的区域，其等位基因多样性对于将抗原呈递给免疫效应细胞以及下游的体液和细胞免疫反应至关重要。因此，表征 HLA 等位基因多样性不仅可以评估 HLA 系统与特定疾病之间的潜在遗传关系，还可以了解其对病理生理过程的影响 (2)。