A genetic investigation of equine recurrent uveitis in the Icelandic horse breed
Research output: Contribution to journal › Comment/debate › Research › peer-review
Standard
A genetic investigation of equine recurrent uveitis in the Icelandic horse breed. / Hack, Yael; Henriksen, Michala de Linde; Pihl, Tina Holberg; Nielsen, Rikke Krarup; Dwyer, Ann E.; Bellone, Rebecca R.
In: Animal Genetics, Vol. 53, No. 3, 2022, p. 436-440.Research output: Contribution to journal › Comment/debate › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - A genetic investigation of equine recurrent uveitis in the Icelandic horse breed
AU - Hack, Yael
AU - Henriksen, Michala de Linde
AU - Pihl, Tina Holberg
AU - Nielsen, Rikke Krarup
AU - Dwyer, Ann E.
AU - Bellone, Rebecca R.
N1 - Publisher Copyright: © 2022 Stichting International Foundation for Animal Genetics.
PY - 2022
Y1 - 2022
N2 - Equine recurrent uveitis (ERU) is an autoimmune disease defined by inflammation of the uveal tract of the eye. The cause of ERU is thought to be complex, involving both genetic and environmental factors. The purpose of this study was to investigate potential genetic risk factors for ERU in the Icelandic horse. Fifty-six Icelandic horses (11 affected with ERU and 45 controls) living in Denmark and the USA, eight years or older, were included in the study. A case–control GWAS was performed using the GGP Equine 80K array on the Illumina Infinium HD Beadchip using 40 horses. A mixed linear model analysis identified a single SNP on ECA 11 (BIEC2_141650; NC_009154.3:g.3817009A>G) that reached genome-wide significance (p = 1.79 × 10−7). This variant was within an intron of tissue inhibitor of metalloproteinase 2 (TIMP2), a gene previously implicated in ERU. Sanger sequencing identified a single coding variant in this gene; however it was a synonymous mutation (NC_009154.3:g.3858193C>T) and was not perfectly concordant with ERU phenotype (p = 0.68). Further investigation of TIMP2 is warranted. Additional horses and markers are needed to identify other potential loci worthy of further investigation as contributors to ERU risk in Icelandic horses.
AB - Equine recurrent uveitis (ERU) is an autoimmune disease defined by inflammation of the uveal tract of the eye. The cause of ERU is thought to be complex, involving both genetic and environmental factors. The purpose of this study was to investigate potential genetic risk factors for ERU in the Icelandic horse. Fifty-six Icelandic horses (11 affected with ERU and 45 controls) living in Denmark and the USA, eight years or older, were included in the study. A case–control GWAS was performed using the GGP Equine 80K array on the Illumina Infinium HD Beadchip using 40 horses. A mixed linear model analysis identified a single SNP on ECA 11 (BIEC2_141650; NC_009154.3:g.3817009A>G) that reached genome-wide significance (p = 1.79 × 10−7). This variant was within an intron of tissue inhibitor of metalloproteinase 2 (TIMP2), a gene previously implicated in ERU. Sanger sequencing identified a single coding variant in this gene; however it was a synonymous mutation (NC_009154.3:g.3858193C>T) and was not perfectly concordant with ERU phenotype (p = 0.68). Further investigation of TIMP2 is warranted. Additional horses and markers are needed to identify other potential loci worthy of further investigation as contributors to ERU risk in Icelandic horses.
KW - genome-wide association study
KW - horses
KW - ocular disease
KW - ophthalmology
KW - TIMP2
U2 - 10.1111/age.13200
DO - 10.1111/age.13200
M3 - Comment/debate
C2 - 35451153
AN - SCOPUS:85128503680
VL - 53
SP - 436
EP - 440
JO - Animal Genetics
JF - Animal Genetics
SN - 0268-9146
IS - 3
ER -
ID: 305718523