Genome-wide search for a candidate gene in systemic lupus erythematosus

系统性红斑狼疮(SLE)是一种遗传因素和环境因素共同作用的多因素疾病。全基因组关联研究揭示了许多常见形式的系统性红斑狼疮的易感基因。然而，这些研究未能确定与SLE发病密切相关的基因。我们发现了一个有血缘关系的SLE家系，由3个受影响的兄弟姐妹和1个未受影响的兄弟姐妹组成。为了确定潜在的基因，我们进行了纯合子定位，发现了两个纯合子区域(FSLE-1和FSLE-2)，其跨度分别为0.7Mb和1.1Mb。MLOD评分分别为1.7分和2.5分。FSLE-1不包含任何基因，但FSLE-2区域包含40个已知和预测的基因。我们计划对FSLE-2区域进行捕获-重新测序分析。

Systemic lupus erythematosus (SLE) is a multifactorial disease in which both genetic and environmental factors are involved. Genome wide association studies revealed many predisposing genes to common forms of SLE. However, those studies have failed to identify genes that strongly contribute to the pathogenesis of SLE. We found one consanguineous SLE family, which consists of 3 affected and 1 unaffected sibling. To identify the underlying gene, we performed a homozygosity mapping and revealed two homozygous regions (FSLE-1, FSLE-2) that spanned 0.7 Mb and 1.1 Mb, respectively. MLOD score was 1.7 and 2.5, respectively. The FSLE-1 did not contain any gene, but the FSLE-2 region contained 40 known and predicted genes. We plan to perform the capture-resequencing analysis of the FSLE-2 region.