Study of the Genetic Susceptibility to Ankylosing Spondylitis by Functional Genomics Approach
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 97
- 试验地点
- 1
- 主要终点
- Comparison of the transcriptome of dendritic cells derived from circulating monocytes between cases and controls
研究概览
简要总结
The main objective is to identify in the candidate regions of differentially expressed genes by comparing the transcriptome of dendritic cells derived from circulating monocytes between cases and controls. Cases and family controls will be matched on the presence of HLA-B27 and depending on haplotype association studies to correlate the differences of gene expression and genetic variations with susceptibility to AS.
详细描述
This is a matched case-control study to identify genetic susceptibility factors to Ankylosing Spondylitis (AS).
Patients and family controls selected from 154 families have been included in genome-wide linkage screening, comprising 440 patients and 904 individuals genotyped using microarrays Affymetrix® 250,000 single-nucleotide polymorphism (SNPs). For each locus,families with a LOD score of 0;15 in predefined region were retained. In these families will be selected a patient and a healthy control of the same sex, if possible, siblings and of comparable age (<10 years apart).
The patients and controls will be contacted by mail and / or telephone to obtain their participation in this study. An updating Questionnaire of AS events will be sent to them, particularly to check that the family controls did not develop AS since their inclusion in the genetic study.
Patient and family controls recruitment and obtaining their dendritic cells (DC) will be made during the first year.
After signing the informed consent, 60ml of whole blood will be taken from each included subject. The cells obtained from blood samples (leukocytes) will be cultured in the laboratory for seven days and used to extract the RNA that will be used to conduct the research. Some of these cells as well as their RNA will be frozen and can be thawed for later use if required.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 —(Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patient >18 and
- •Axial SpA patients fulfilling the ASAS criteria (31) and belonging to families already included in genetic analyses previously made by our Consortium.
- •Family controls without AS and matched to AS cases on age, sex and HLA-B27 positivity.
- •Non-family independent healthy controls
- •Written informed consent
排除标准
- •Person specially Protected
- •Persons living abroad, in the DOM-TOM
结局指标
主要结局
Comparison of the transcriptome of dendritic cells derived from circulating monocytes between cases and controls
时间窗: 18 months
次要结局
- Assessment of manifestations of Ankylosing Spondylitis (AS) according an Updating Questionnaire.(1 day)
