A team of researchers has discovered new genes, pathways and cell types that are involved in inherited susceptibility to rheumatoid arthritis (RA).
The study was conducted by Dr. Robert M. Plenge from the Harvard Medical School and the Broad Institute in the USA and Dr. Yukinori Okada from the RIKEN Center for Integrative Medical Sciences in Japan in collaboration with colleagues from 70 institutions worldwide.
The international team performed a genome-wide association study meta-analysis on a total of over 100,000 subjects of European and Asian descent - 29,880 rheumatoid arthritis patients and 73,758 controls - by analysing around 10 million genetic variants called single nucleotide polymorphism (SNPs).
They identified 42 new regions in the genome (loci) that are associated with rheumatoid arthritis, bringing the total number of known rheumatoid arthritis loci to 101.
By conducting bioinformatics studies integrating existing datasets with this new information, the researchers were able to pinpoint 98 genes in these 101 loci that could potentially contribute to the onset of rheumatoid arthritis.
"This study sheds light on the fundamental genes, pathways and cell types that contribute to the onset of rheumatoid arthritis and provides evidence that the genetics of rheumatoid arthritis can provide important information for drug discovery," the authors concluded.
"While there are previous anecdotal examples, our study provides a systematic approach by which human genetic data can be efficiently integrated with other biological information to derive biological insights and drug discovery," they added.
The study is published in the journal Nature.
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