Frequencies of the LILRA3 6.7-kb deletion are highly differentiated among Han Chinese subpopulations, and involved in ankylosing spondylitis predisposition

Leukocyte immunoglobulin-like receptor A3 (<i>LILRA3</i>) belongs to the multigene LILR family with unique feature of a presence or absence of 6.7-kb variation among individuals. The frequencies of the 6.7-kb<i> </i>deletion vary widely across populations, but so far it has not been carefully investigated among Han Chinese subpopulations. Furthermore, we previously identified the non-deleted (functional) <i>LILRA3</i> as a novel genetic risk for multiple autoimmune diseases. We undertook current study to investigate i) the frequencies of 6.7-kb deletion among Han Chinese subpopulations. ii) whether the functional <i>LILRA3 </i>is a novel susceptibility factor for ankylosing spondylitis (AS), and iii) whether <i>LILRA3</i> influences the disease activity in AS.

白细胞免疫球蛋白样受体A3（Leukocyte immunoglobulin-like receptor A3，LILRA3）属于多基因LILR家族，其独特特征为个体间存在6.7kb片段的存在/缺失多态性。该6.7kb片段缺失的频率在不同人群中差异显著，但迄今为止，尚未针对汉族亚群开展相关的深入研究。此外，本团队前期已证实非缺失型（功能性）LILRA3是多种自身免疫性疾病的新型遗传风险因子。本研究旨在探究三个核心问题：其一，汉族亚群中6.7kb片段缺失的频率；其二，功能性LILRA3是否为强直性脊柱炎（ankylosing spondylitis，AS）的新型易感因素；其三，LILRA3是否会影响强直性脊柱炎的疾病活动度。