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However, a great number of genes are located in the HLA<\/jats:styled-content> region, and thus fine mapping is quite necessary.<\/jats:p><\/jats:sec>Methods<\/jats:title>Targeted capture sequencing were performed on the whole HLA<\/jats:styled-content> region in 42 IIM<\/jats:styled-content> patients and 24 healthy controls. A microarray analysis was applied to analyze gene expression profiles in additional 20 newly diagnosed IIM<\/jats:styled-content> and five healthy controls.<\/jats:p><\/jats:sec>Results<\/jats:title>The HLA<\/jats:styled-content> region was confirmed to be associated with IIM<\/jats:styled-content>s in Chinese patients. By gene expression profiling and pathway analysis, several genes were identified as candidates for IIM<\/jats:styled-content> risk factors, including HLA<\/jats:styled-content>\u2010A<\/jats:italic>, HLA<\/jats:styled-content>\u2010B<\/jats:italic>, HLA<\/jats:styled-content>\u2010DRB<\/jats:styled-content>5<\/jats:italic>, HLA<\/jats:styled-content>\u2010DRB<\/jats:styled-content>1<\/jats:italic>, HLA<\/jats:styled-content>\u2010DQA<\/jats:styled-content>1<\/jats:italic>, HLA<\/jats:styled-content>\u2010DQB<\/jats:styled-content>1<\/jats:italic> and HLA<\/jats:styled-content>\u2010DQB<\/jats:styled-content>2<\/jats:italic>. Interestingly, p.Y107V of the HLA<\/jats:styled-content>\u2010DRB<\/jats:styled-content>1<\/jats:italic> was predicted to be a potential causal non\u2010synonymous variation for IIM<\/jats:styled-content>s that may affect the antigen\u2010binding groove of the HLA<\/jats:styled-content>\u2010II<\/jats:styled-content> molecule.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our data have revealed novel genetic variations in the HLA<\/jats:styled-content> region of IIM<\/jats:styled-content> patients and provide new insight into the pathogenesis and diagnosis of IIM<\/jats:styled-content>s.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.13350","type":"journal-article","created":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T23:07:40Z","timestamp":1535584060000},"page":"1619-1626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Targeted capture sequencing identifies novel genetic variations in Chinese patients 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