Department of Bioinformatics, and Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan.
J Rheumatol. 2011 Nov;38(11):2376-81. doi: 10.3899/jrheum.101310. Epub 2011 Sep 1.
Lumican (LUM) is predominantly localized in areas of pathological fibrosis. To determine whether polymorphisms in LUM gene are associated with development of systemic lupus erythematosus (SLE), we analyzed 2 single-nucleotide polymorphisms (SNP) of LUM in a Taiwan Chinese Han population.
Participants included 168 patients with SLE and 192 age-matched controls in whom examinations had excluded SLE. Genotyping of -628 A/-(rs17018757) and c.1567 T/C polymorphisms in LUM were carried out in each patient and control using the polymerase chain reaction-restriction fragment-length polymorphism method, and validated by Taqman SNP genotyping assay. Data were correlated with the development of SLE and various clinical symptoms by chi-square analysis.
Frequencies of C/C genotype and the C allele at c.1567 T/C were significantly higher in patients than controls. Polymorphism at c.1567 C/T was found to be associated with arthritis and photosensitivity in patients with SLE, which are both connective tissue-related symptoms.
The c.1567 T/C polymorphism of LUM is related to the development and clinical symptoms of SLE.
穹窿蛋白（LUM）主要定位于病理性纤维化区域。为了确定 LUM 基因中的多态性是否与系统性红斑狼疮（SLE）的发生有关，我们分析了台湾汉族人群中 LUM 基因的 2 个单核苷酸多态性（SNP）。
纳入了 168 例 SLE 患者和 192 名年龄匹配的对照者，这些对照者经检查均排除了 SLE。采用聚合酶链反应-限制性片段长度多态性方法对每位患者和对照者的 LUM-628 A/-(rs17018757)和 c.1567 T/C 多态性进行基因分型，并通过 Taqman SNP 基因分型检测进行验证。采用卡方分析将数据与 SLE 的发生及各种临床症状相关联。
c.1567 T/C 多态性的 C/C 基因型和 C 等位基因在患者中的频率明显高于对照者。c.1567 C/T 多态性与 SLE 患者的关节炎和光敏感有关，而关节炎和光敏感均与结缔组织相关症状有关。
LUM 的 c.1567 T/C 多态性与 SLE 的发生和临床症状有关。
