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Article

Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis.

Scientific reports - 6 Jun 2017

Hitomi Yuki, Kojima Kaname, Kawashima Minae, Kawai Yosuke, Nishida Nao, Aiba Yoshihiro, Yasunami Michio, Nagasaki Masao, Nakamura Minoru, Tokunaga Katsushi

Abstract excerpt

Numerous genome-wide association studies (GWAS) have been performed to identify susceptibility genes to various human complex diseases. However, in many cases, neither a functional variant nor a disease susceptibility gene have been clarified. Here, we show an efficient approach for identification of a functional variant in a primary biliary cholangitis (PBC)-susceptible region, chromosome 17q12-21...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28588209
DOI: 10.1038/s41598-017-03067-3
PMCID: PMC5460198

Genes

GSDMB
ORMDL3
FOXO1
IKZF3
ZPBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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