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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10312545" target="_blank" >RIV/00216208:11110/15:10312545 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/15:10312545 RIV/00064203:_____/15:10312545 RIV/00064165:_____/15:10312545
Result on the web
<a href="http://dx.doi.org/10.1038/ejhg.2015.28" target="_blank" >http://dx.doi.org/10.1038/ejhg.2015.28</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/ejhg.2015.28" target="_blank" >10.1038/ejhg.2015.28</a>

Result language
angličtina
Original language name
Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent
Original language description
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
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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