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, Eva VLKOVÁ, Nandu GOSWAMI, Vladimír Josef BALCAR and Omar ŠERÝ. An association of neovascular age-related macular degeneration with polymorphisms of CFH, ARMS2, HTRA1 and C3 genes in Czech population. ACTA OPHTHALMOLOGICA. USA: WILEY-BLACKWELL PUBLISHING, 2020, vol. 98, No 6, p. "E691"-"E699", 9 pp. ISSN 1755-375X. Available from: https://dx.doi.org/10.1111/aos.14357.

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

• Original language: English
• Type of outcome: Article in a journal
• Field of Study: 30207 Ophthalmology
• Country of publisher: United States of America
• Confidentiality degree: is not subject to a state or trade secret
• WWW: URL
• Impact factor: Impact factor: 3.761
• RIV identification code: RIV/00216224:14310/20:00116417
• Organization unit: Faculty of Science
• Doi: http://dx.doi.org/10.1111/aos.14357
• UT WoS: 000508630500001
• Keywords in English: gene; inflammation; obesity; polymorphism; retina; risk
• Tags: 14110219
• Tags: International impact, Reviewed

Abstract

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.

Abstract (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.