4.5 Article

Association of caspase-1 gene polymorphisms with rheumatoid arthritis risk in a Chinese Han population

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Summary: Genome-wide association studies have identified over 100 genetic risk factors for rheumatoid arthritis, but they can only explain less than 40% of its heritability. To address the missing heritability, novel functional SNPs were identified through genotyping HLA SNPs and common SNPs located in miRNA. The study discovered new SNPs significantly associated with rheumatoid arthritis and demonstrated significant epistasis effects between certain SNPs.

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