Genetic risk for squamous cell carcinoma of the nictitating membrane parallels that of the limbus in Haflinger horses

Animal Genetics
Moriel Singer-BerkRebecca R Bellone

Abstract

Squamous cell carcinoma (SCC) is the most common cancer affecting the equine eye, with a higher incidence documented in Haflinger horses. Recently, a missense variant in the gene damage specific DNA binding protein 2 (DDB2, p.Thr338Met) on ECA12 was identified as a risk factor for the development of limbal SCC in Haflinger horses. SCC also occurs on the nictitating membrane; therefore, investigating the role of this missense variant in nictitating membrane SCC is warranted. In this study, a common ancestor was identified among Haflinger horses affected with limbal SCC or with nictitating membrane SCC, thus supporting a recessive risk factor for the development of cancer at both ocular locations. Analysis of genotype data from Haflinger horses with and without nictitating membrane SCC revealed that the same region on ECA12 associated with limbal SCC was also associated with nictitating membrane SCC (P < 2.04 × 10-5 ). Fine mapping of this locus using 25 cases and 49 controls supported the hypothesis that DDB2:c.1013C>T, p.Thr338Met, is a risk factor for nictitating membrane SCC, as 88% of our cases were homozygous for this variant and no other polymorphism was more strongly associated (P = 4.13 × 10-14 ). These data indicate tha...Continue Reading

References

Dec 14, 2012·Journal of the American Veterinary Medical Association·Paula A SchafferColleen G Duncan
Sep 18, 2014·Journal of the American Veterinary Medical Association·Nicole M ScherrerBrianna C McKenna
Oct 15, 2014·Veterinary Ophthalmology·Mary LassalineRebecca R Bellone
Jan 17, 2015·Equine Veterinary Journal·E J KnowlesT S Mair
Apr 21, 2017·International Journal of Cancer. Journal International Du Cancer·Rebecca R BelloneMary Lassaline

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