Dissecting the contribution of single nucleotide polymorphisms in CCR9 and CCL25 genomic regions to the celiac disease phenotype

Show full item record



Permalink

http://hdl.handle.net/10138/338767

Citation

Airaksinen , L , Cerqueira , J X M , Huhtala , H , Saavalainen , P , Yohannes , D A , Mäki , M , Kurppa , K , Kilpeläinen , E , Shcherban , A , Palotie , A , Kaukinen , K & Lindfors , K 2021 , ' Dissecting the contribution of single nucleotide polymorphisms in CCR9 and CCL25 genomic regions to the celiac disease phenotype ' , Journal of translational autoimmunity , vol. 4 , 100128 . https://doi.org/10.1016/j.jtauto.2021.100128

Title: Dissecting the contribution of single nucleotide polymorphisms in CCR9 and CCL25 genomic regions to the celiac disease phenotype
Author: Airaksinen, Laura; Cerqueira, Juliana X. M.; Huhtala, Heini; Saavalainen, Päivi; Yohannes, Dawit A.; Mäki, Markku; Kurppa, Kalle; Kilpeläinen, Elina; Shcherban, Anastasia; Palotie, Aarno; Kaukinen, Katri; Lindfors, Katri
Contributor organization: Immunomics
TRIMM - Translational Immunology Research Program
Department of Medical and Clinical Genetics
Genomics of Neurological and Neuropsychiatric Disorders
Institute for Molecular Medicine Finland
Centre of Excellence in Complex Disease Genetics
Aarno Palotie / Principal Investigator
Date: 2021
Language: eng
Number of pages: 7
Belongs to series: Journal of translational autoimmunity
ISSN: 2589-9090
DOI: https://doi.org/10.1016/j.jtauto.2021.100128
URI: http://hdl.handle.net/10138/338767
Abstract: Purpose and objectives: Given their role in homing immune cells to the intestine, CC motif chemokine receptor 9 (CCR9) and its specific ligand CC motif chemokine ligand 25 (CCL25) are interesting candidate genes for celiac disease. These genes are located in regions previously shown to be associated with or linked to celiac disease, but no investigations on their association with various celiac disease phenotypes have so far been conducted. Here we studied such associations of both genotyped and imputed single nucleotide polymorphisms (SNPs) with either regulatory function or exonic location of the CCR9 and CCL25 loci. Results: Exploiting a carefully phenotyped cohort of 625 celiac disease patients and 1817 non-celiac controls, we identified that multiple SNPs with predicted regulatory function (RegulomeDB score 0.05). Conclusions: We conclude that SNPs in the region of CCR9 and CCL25 with predicted functional effect or exonic localization likely contribute only modestly to various celiac disease phenotypes.
Subject: Celiac disease
Clinical picture
Chemokine receptor
Genetic variation
Genetic association
MULTIPLE COMMON
ASSOCIATION
LYMPHOCYTES
CHEMOKINE
3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: publishedVersion


Files in this item

Total number of downloads: Loading...

Files Size Format View
1_s2.0_S2589909021000484_main.pdf 2.256Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record