4.4 Article

Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis

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What Have We Learned From Family-Based Studies About Spondyloarthritis?

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Summary: Spondyloarthritis (SpA) is a chronic inflammatory disorder with high familial aggregation, showing genetic susceptibility factors. Family-based studies indicate a likely oligogenic transmission model with multiplicative effects, highlighting the complex interplay between different SpA subtypes. Despite the identification of over 40 susceptibility regions through case-control genome-wide association studies, these loci only explain a small portion of disease predisposition, leading to a renewed interest in family-based designs for detecting rare associated variants.

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