OK COBRE: GENETIC ASSOCIATION IN PEDIATRIC SLE PATIENTS

OK COBRE：儿童系统性红斑狼疮患者的遗传关联

• 批准号: 7382103
• 负责人: ANDREA L SESTAK
• 金额: $ 31.68万
• 依托单位: OKLAHOMA MEDICAL RESEARCH FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-07-01 至 2007-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7382103
• 关键词: OK; COBRE; GENETIC; ASSOCIATION; PEDIATRIC

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 effects, 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 Affymetrix GeneChip, which allows 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.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中得到体现。列出的机构是中心的机构，不一定是研究者的机构。系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，具有多种临床表现，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。儿童期发病的 SLE 往往更严重，临床病程也更具侵袭性。尽管已经进行了大量研究来描述 SLE 的遗传学特征，但没有一项研究关注儿童发病亚组。我们假设儿童发病人群的遗传效应将会丰富，并且在该人群中发现的遗传危险因素也将给成人发病的 SLE 患者带来风险。 我们之前收集了三组儿科 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 Affymetrix GeneChip 简化对儿科 SLE 患者易感基因的搜索，该芯片允许同时对 500,000 个位点进行基因分型。 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 种效应将在第二组儿科发病的 SLE 病例和对照中进行表征。预计这些效应中只有一部分会得到证实，但那些可以复制的效应很可能代表成人和儿童中真正的 SLE 易感位点。