1. Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population
- Author
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Naon Kim-Yeon, Javier L Fernández-García, Ana Belén Rebolledo-Poves, Elia Pérez-Fernández, María Velasco, Elena Gómez-Blazquez, Leyre Lloreda Martín, Laura Modamio-Gardeta, Ruth Pazos-Rodriguez, José-Carlos Martín-Rodrigo, and Pablo Gili
- Subjects
Male ,0301 basic medicine ,Oncology ,medicine.medical_specialty ,Genotype ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Macular Degeneration ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Humans ,Gene ,Genotyping ,Aged ,business.industry ,Proteins ,High-Temperature Requirement A Serine Peptidase 1 ,General Medicine ,Complement C2 ,Macular degeneration ,Exudative age-related macular degeneration ,medicine.disease ,eye diseases ,Spanish population ,Ophthalmology ,030104 developmental biology ,Increased risk ,Spain ,Complement Factor H ,HTRA1 ,030221 ophthalmology & optometry ,Female ,sense organs ,business - Abstract
Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.
- Published
- 2021
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