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Article

Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease.

Inflammatory bowel diseases - 1 Jan 2016

Sasaki Mark M, Skol Andrew D, Hungate Eric A, Bao Riyue, Huang Lei, Kahn Stacy A, Allan James M, Brant Steven R, McGovern Dermot P B, Peter Inga, Silverberg Mark S, Cho Judy H, Kirschner Barbara S, Onel Kenan

Abstract excerpt

BACKGROUND: Rare variants (<1%) likely contribute significantly to risk for common diseases such as inflammatory bowel disease (IBD) in specific patient subsets, such as those with high familiality. They are, however, extraordinarily challenging to identify. METHODS: To discover candidate rare variants associated with IBD, we performed whole-exome sequencing on 6 members of a pediatric-onset IBD family with...

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PMID: 26480299
DOI: 10.1097/MIB.0000000000000610
PMCID: PMC4679526

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