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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/15:10312545 RIV/00064203:_____/15:10312545 RIV/00064165:_____/15:10312545

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

—

Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

—

Svazek periodika

23

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

1581-1583

Kód UT WoS článku

000362916200025

EID výsledku v databázi Scopus

2-s2.0-84944355095