Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent

European Journal of Human Genetics : EJHG
Lubica DudakovaPetra Liskova

Abstract

Corneal ectasias, among which keratoconus (KC) is the single most common entity, are one of the most frequent reasons for corneal grafting in developed countries and a threatening complication of laser in situ keratomileusis. Genome-wide association studies have previously found lysyl oxidase (LOX) and hepatocyte growth factor (HGF) associated with susceptibility to KC development. The aim of our study was to validate the effects of seven single-nucleotide polymorphisms (SNPs) within LOX and HGF over KC. Unrelated Czech cases with KC of European descent (108 males and 57 females, 165 cases in total) and 193 population and gender-matched controls were genotyped using Kompetitive Allele Specific PCR assays. Fisher's exact tests were used to assess the strength of associations. Evidence for association was found for both of the tested loci. It was strongest for rs3735520:G>A near HGF (allelic test odds ratio (OR)=1.45; 95% confidence interval (CI), 1.06-1.98; P=0.018) with A allele being a risk factor and rs2956540:G>C (OR=0.69; 95% CI, 0.50-0.96; P=0.024) within LOX with C allele having a protective effect. This first independent association validation of rs2956540:G>C and rs3735520:G>A suggests that these SNPs may serve as genet...Continue Reading

References

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Oct 18, 2011·Investigative Ophthalmology & Visual Science·Kathryn P BurdonJamie E Craig
Jun 5, 2012·Investigative Ophthalmology & Visual Science·Yelena BykhovskayaYaron S Rabinowitz
Jun 12, 2012·Acta Ophthalmologica·Stephen J TuftPetra Liskova
Oct 9, 2012·Experimental Eye Research·Lubica DudakovaKaterina Jirsova
Feb 8, 2013·Clinical & Experimental Optometry : Journal of the Australian Optometrical Association·Kathryn P Burdon, Andrea L Vincent
Feb 8, 2014·Ophthalmic Genetics·Farzaneh Hasanian-LangroudiDavood Yari

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Citations

Dec 24, 2015·Journal of Ophthalmology·Jingjing YouMichele C Madigan
Jun 29, 2016·Eye and Vision·Yelena BykhovskayaYaron S Rabinowitz
Mar 31, 2018·Cornea·Claudia Perez-StraziotaYaron S Rabinowitz
Sep 22, 2017·The Open Ophthalmology Journal·Sarah MoussaHerbert Reitsamer
Apr 23, 2020·Annual Review of Vision Science·Sionne E M Lucas, Kathryn P Burdon
Jul 6, 2017·Scientific Reports·Shi Song RongLi Jia Chen
Mar 1, 2019·Biomedit︠s︡inskai︠a︡ khimii︠a︡·L O SkorodumovaB E Malyugin
Feb 17, 2017·PloS One·Petra LiskovaPirro G Hysi
Dec 15, 2020·Experimental Eye Research·Yelena Bykhovskaya, Yaron S Rabinowitz

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