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Current understanding of the genetic aetiology of rheumatoid arthritis and likely future developments.

机译:目前对类风湿关节炎的遗传病因学的了解以及未来的发展趋势。

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摘要

Most of the work described herein was performed by the North American Rheumatoid Arthritis Consortium (NARAC). After a brief description of the NARAC and the multiplex family resource that has been developed by this consortium, we will summarize the current status of genome-wide screens using this valuable family collection. Next, we describe work that is under way to further delineate the genes on chromosome 18q that demonstrate linkage to rheumatoid arthritis (RA), including an analysis of candidate genes in the region and results of dense association mapping. We also describe an extensive analysis of functional single-nucleotide polymorphisms (SNPs) that is under way in collaboration with Celera Diagnostics, as well as studies designed to further dissect the phenotypic and genotypic heterogeneity of RA. We conclude by briefly summarizing our future plans to elucidate the genetic aetiology of RA.
机译:本文所述的大部分工作是由北美类风湿关节炎协会(NARAC)进行的。在简要描述了该财团开发的NARAC和多重家族资源之后,我们将使用这个有价值的家族集合来总结全基因组筛选的当前状态。接下来,我们描述了正在进行的工作,以进一步描绘18q号染色体上证明与类风湿性关节炎(RA)连锁的基因,包括对该区域候选基因的分析和密集关联图谱的结果。我们还描述了正在与Celera Diagnostics合作进行的功能性单核苷酸多态性(SNP)的广泛分析,以及旨在进一步剖析RA的表型和基因型异质性的研究。最后,我们简要总结了阐明RA的遗传病因的未来计划。

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