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

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 o...

Full description

Saved in:
Bibliographic Details
Published in:Scientific reports 2017-06, Vol.7 (1), p.2904-10, Article 2904
Main Authors: Hitomi, Yuki, Kojima, Kaname, Kawashima, Minae, Kawai, Yosuke, Nishida, Nao, Aiba, Yoshihiro, Yasunami, Michio, Nagasaki, Masao, Nakamura, Minoru, Tokunaga, Katsushi
Format: Article
Language:English
Subjects:
13/109
38/77
45/23
45/43
631/208/248/144
692/4020/1503/1607/1606
Alleles
Base Sequence
Binding Sites
Cholangitis
Chromosome 17
Chromosomes, Human, Pair 17
Computational Biology - methods
Databases, Genetic
Forkhead Box Protein O1 - metabolism
Forkhead protein
FOXO1 protein
Gene Expression
Gene mapping
Genes, Reporter
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype
Humanities and Social Sciences
Humans
Liver Cirrhosis, Biliary - genetics
Liver Cirrhosis, Biliary - metabolism
Liver Cirrhosis, Biliary - pathology
Membrane Proteins - genetics
Models, Biological
multidisciplinary
Mutation
Neoplasm Proteins - genetics
Nucleotide Motifs
Nucleotide sequence
Polymorphism, Single Nucleotide
Protein Binding
Quantitative trait loci
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
Spleen
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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 ( ORMDL3 - GSDMB - ZPBP2 - IKZF3 ). High-density association mapping was carried out based on SNP imputation analysis by using the whole-genome sequence data from a reference panel of 1,070 Japanese individuals (1KJPN), together with genotype data from our previous GWAS (PBC patients: n = 1,389; healthy controls: n = 1,508). Among 23 single nucleotide polymorphisms (SNPs) with P  
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-017-03067-3