Genome-wide association study for insect bite hypersensitivity susceptibility in horses revealed novel associated loci on chromosome 1

Merina Shrestha, Marina Solé, Bart J. Ducro, Marie Sundquist, Ruth Thomas, Anouk Schurink, Susanne Eriksson, Gabriella Lindgren*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Abstract

Equine insect bite hypersensitivity (IBH) is a pruritic skin allergy caused primarily by biting midges, Culicoides spp. IBH susceptibility has polygenic inheritance and occurs at high frequencies in several horse breeds worldwide, causing increased costs and reduced welfare of affected horses. The aim of this study was to identify and validate single nucleotide polymorphisms (SNPs) associated with equine IBH susceptibility. After quality control, 33,523 SNPs were included in a Bayesian genome-wide association study on 177 affected and 178 unaffected Icelandic horses. We report associated regions in E. caballus (ECA) 1, 3, 15 and 18, overlapping with known IBH QTLs in horses, and novel regions containing several genes, together explaining 11.46% of the total genetic variance. For validation, three SNPs on ECA 1 and ECA X (explaining the largest percentage of genetic variance) within 1-mb genomic windows for IBH were genotyped in an independent population of 280 Exmoor ponies. The associated genomic region (152–153 mb) on ECA 1 was confirmed in Exmoor ponies and contains the AQR gene involved in splicing processes and a long non-coding RNA. This study confirms the polygenic nature of IBH susceptibility and suggests a role of transcriptional regulatory mechanisms (e.g., alternative splicing) for IBH predisposition in these horse breeds.

Original languageEnglish
Pages (from-to)223-233
JournalJournal of Animal Breeding and Genetics
Volume137
Issue number2
Early online date5 Sep 2019
DOIs
Publication statusPublished - Mar 2020

Keywords

  • Exmoor pony
  • genetic risk factors
  • genome-wide association study
  • Icelandic horse
  • insect bite hypersensitivity

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