Publications

Detailed Information

Identification of shared loci associated with both Crohn's disease and leprosy in East Asians

Cited 5 time in Web of Science Cited 4 time in Scopus
Authors

Jung, Seulgi; Park, Dohoon; Lee, Ho-Su; Kim, Yongjae; Baek, Jiwon; Hwang, Sung Wook; Park, Sang Hyoung; Yang, Suk-Kyun; Ye, Byong Duk; Han, Buhm; Sun, Yonghu; Liu, Hong; Zhang, Furen; Liu, Jianjun; Song, Kyuyoung

Issue Date
2022-11
Publisher
Oxford University Press
Citation
Human Molecular Genetics, Vol.31 No.22, pp.3934-3944
Abstract
Genome-wide association studies (GWAS) of Crohn's disease (CD) in European and leprosy in Chinese population have shown that CD and leprosy share genetic risk loci. As these shared loci were identified through cross-comparisons across different ethnic populations, we hypothesized that meta-analysis of GWAS on CD and leprosy in East Asian populations would increase power to identify additional shared loci. We performed a cross-disease meta-analysis of GWAS data from CD (1621 cases and 4419 controls) and leprosy (2901 cases 3801 controls) followed by replication in additional datasets comprising 738 CD cases and 488 controls and 842 leprosy cases and 925 controls. We identified one novel locus at 7p22.3, rs77992257 in intron 2 of ADAP1, shared between CD and leprosy with genome-wide significance (P = 3.80 x 10(-11)) and confirmed 10 previously established loci in both diseases: IL23R, IL18RAP, IL12B, RIPK2, TNFSF15, ZNF365-EGR2, CCDC88B, LACC1, IL27, NOD2. Phenotype variance explained by the polygenic risk scores derived from Chinese leprosy data explained up to 5.28% of variance of Korean CD, supporting similar genetic structures between the two diseases. Although CD and leprosy shared a substantial number of genetic susceptibility loci in East Asians, the majority of shared susceptibility loci showed allelic effects in the opposite direction. Investigation of the genetic correlation using cross-trait linkage disequilibrium score regression also showed a negative genetic correlation between CD and leprosy (r(g) [SE] = -0.40[0.13], P = 2.6 x 10(-3)). These observations implicate the possibility that CD might be caused by hyper-sensitive reactions toward pathogenic stimuli.
ISSN
0964-6906
URI
https://hdl.handle.net/10371/191457
DOI
https://doi.org/10.1093/hmg/ddac101
Files in This Item:
There are no files associated with this item.
Appears in Collections:

Related Researcher

  • College of Medicine
  • Department of Medicine
Research Area Bioinformatics, Genomics, Statistical Genetics

Altmetrics

Item View & Download Count

  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Share