J 2020

An association of neovascular age-related macular degeneration with polymorphisms of CFH, ARMS2, HTRA1 and C3 genes in Czech population

MATUŠKOVÁ, Veronika, Tomáš ZEMAN, Laura AMBROZOVÁ, Zuzana HLINOMAZOVÁ, Jan SOUČEK et. al.

Basic information

Original name

An association of neovascular age-related macular degeneration with polymorphisms of CFH, ARMS2, HTRA1 and C3 genes in Czech population

Name in Czech

Asociace neovaskulární věkem podmíněné makulární degenerace s polymorfismy genů CFH, ARMS2, HTRA1 a C3 v české populaci

Authors

MATUŠKOVÁ, Veronika (203 Czech Republic, belonging to the institution), Tomáš ZEMAN (203 Czech Republic, belonging to the institution), Laura AMBROZOVÁ (703 Slovakia, belonging to the institution), Zuzana HLINOMAZOVÁ (203 Czech Republic), Jan SOUČEK (203 Czech Republic, belonging to the institution), Eva VLKOVÁ (203 Czech Republic, belonging to the institution), Nandu GOSWAMI (40 Austria), Vladimír Josef BALCAR (203 Czech Republic) and Omar ŠERÝ (203 Czech Republic, guarantor, belonging to the institution)

Edition

ACTA OPHTHALMOLOGICA, USA, WILEY-BLACKWELL PUBLISHING, 2020, 1755-375X

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30207 Ophthalmology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 3.761

RIV identification code

RIV/00216224:14310/20:00116417

Organization unit

Faculty of Science

DOI

UT WoS

000508630500001

Keywords in English

gene; inflammation; obesity; polymorphism; retina; risk

Tags

Tags

International impact, Reviewed
Změněno: 10/8/2023 09:36, Mgr. Marie Šípková, DiS.

Abstract

ORIG CZ

V originále

Purpose We investigated associations between neovascular age-related macular degeneration (AMD) and rs10490924 polymorphism of ARMS2 gene (age-related maculopathy susceptibility 2), rs1061170 polymorphism of gene for complement factor H (CFH), rs2230199 polymorphism of gene for complement component C3 and rs11200638 polymorphism of gene for serine protease high-temperature requirement A1 (HTRA1) in the Czech population. Methods We analysed samples of DNA from 307 patients diagnosed with neovascular form of late AMD (average age: 73.7 +/- 7.7 years) and 191 control subjects, recruited from patients awaiting cataract surgery (average age, 73.6 +/- 8.7 years). Results HTRA1, CFH and ARMS2 genes polymorphisms were found to be related to neovascular AMD in the Czech population. All analysed polymorphisms were statistically significantly associated with neovascular AMD, with stronger associations in females than in males. In whole group, CC genotype of CFH gene polymorphism, TT genotype of ARMS2 gene polymorphism and AA genotype of HTRA1 gene polymorphism showed the greatest risk for neovascular AMD with odds ratios equal to 8.43, 10.07, 9.83, respectively (p < 0.0001). Only CG polymorphism of C3 gene showed statistically significant risk for neovascular AMD. In addition, we observed an association between waist circumference and neovascular AMD in both sexes, which further suggests the significance of excessive abdominal fat as a risk factor of AMD. We found a statistically significant association between polymorphisms in HTRA1, CFH and ARMS2 genes and neovascular AMS in the Czech population. The association was stronger in females than in males. Conclusion We demonstrated a relationship between neovascular AMD and genes for HTRA1, CFH, ARMS2 and C3 in Czech population. To our knowledge, the relationship between these polymorphisms and neovascular AMD in Czech population has never been investigated before.

In Czech

Zkoumali jsme asociace mezi neovaskulární věkovou makulární degenerací (AMD) a rs10490924 polymorfismem genu ARMS2 (věkem podmíněná makulopatie 2), rs1061170 polymorfismem genu pro faktor komplementu H (CFH), rs2230199 polymorfismem genu pro komponentu komplementu C3 a rs11200638 polymorfismus genu pro HTRA1 v české populaci. Analyzovali jsme vzorky DNA od 307 pacientů s diagnostikovanou neovaskulární formou pozdní AMD (průměrný věk: 73,7 +/- 7,7 let) a 191 kontrolních subjektů, rekrutovaných od pacientů čekajících na operaci katarakty (průměrný věk, 73,6 +/- 8,7 let). Bylo zjištěno, že polymorfismy genů HTRA1, CFH a ARMS2 souvisejí s neovaskulární AMD v české populaci. Všechny analyzované polymorfismy byly statisticky významně spojeny s neovaskulární AMD, se silnější asociací u žen než u mužů. V celé skupině CC genotyp polymorfismu genu CFH, TT genotyp polymorfismu genu ARMS2 a AA genotyp polymorfismu genu HTRA1 vykazovaly největší riziko pro neovaskulární AMD s poměrem šancí rovným 8,43, 10,07, 9,83 (p <0,0001). Ukázali jsme vztah mezi neovaskulární AMD a geny pro HTRA1, CFH, ARMS2 a C3 v české populaci. Pokud je nám známo, vztah mezi těmito polymorfismy a neovaskulární AMD v české populaci nebyl nikdy předtím zkoumán.