OK COBRE: GENETIC ASSOCIATION IN PEDIATRIC SLE PATIENTS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者的研究机构。 系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，临床表现多样，影响所有种族、性别和年龄组。 大约10%的SLE患者在18岁时被诊断出来。 在儿童期发病的SLE往往更严重，并且具有更积极的临床过程。 虽然已经进行了大量的研究表征SLE的遗传学，他们都没有集中在儿童发病的亚组。 我们假设，儿童发病队列将富集遗传效应，在这一人群中发现的遗传危险因素也将赋予成人发病SLE患者的风险。 我们以前收集了三组儿童SLE患者和匹配的对照，包括临床数据，血清样本和DNA。 我们计划使用AFFymetix基因芯片来简化我们对儿童期SLE患者易感基因的搜索，该芯片允许在500，000个位点同时进行基因分型。 一旦第一阶段的基因分型完成，结果将与数据库进行比较，并确定第二阶段SNP分型的优先顺序。 前500个效应将在第二队列的儿童发病SLE病例和对照中进行表征。 预计这些效应中只有一部分将得到证实，但那些可重复的效应可能代表成人和儿童中真正的SLE易感位点。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Systemic lupus erythematosus (SLE) is a complex autoimmune disease that presents with a variety of clinical manifestations and affects all races, genders, and age groups. About 10% of SLE patients are diagnosed by age 18. SLE that has onset in childhood tends to be more severe and to have a more aggressive clinical course. Although numerous studies have been performed characterizing the genetics of SLE, none of them have focused on the pediatric-onset subgroup. We hypothesize that pediatric-onset cohorts will be enriched for genetic effect, and that the genetic risk factors found in this population will also confer risk in adult-onset SLE patients. We have previously collected three cohorts of pediatric SLE patients and matched controls, including clinical data, serum samples, and DNA. We plan to streamline our search for susceptibility genes in pediatric-onset SLE patients using the AFFymetix GeneChip, which allow simultaneous genotyping at 500,000 loci. Once the first phase of genotyping is complete, results will be compared with the database and priorities for the second phase of SNP typing will be established. The top 500 effects will be characterized in the second cohort of pediatric-onset SLE cases and controls. It is expected that only a subset of these effects will be confirmed, but those effects that can be replicated are likely to represent true SLE susceptibility loci, both in adults and children.