Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Weger, M; Renner, W; Steinbrugger, I; Köfer, K; Wedrich, A; Groselj-Strele, A; El-Shabrawi, Y; Schmut, O; Haas, A.
Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population.
Mol Vis. 2007; 13(4): 1274-1279.
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Web of Science
PubMed
- Führende Autor*innen der Med Uni Graz
- Haas Anton
- Weger Martin
- Co-Autor*innen der Med Uni Graz
- El-Shabrawi Yosuf
- Groselj-Strele Andrea
- Justich Katharina
- Renner Wilfried
- Schmut Otto
- Steinbrugger Iris
- Wedrich Andreas
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- Abstract:
- PURPOSE: Exudative age-related macular degeneration (AMD) is one of the most common causes of severe visual loss. Both environmental and genetic factors, such as the complement factor H (CFH) 402H allele, have been associated with AMD. Recently, the HTRA1 -625A allele was identified as a novel risk marker in both a North American and a Chinese population. The present study was performed to evaluate the association of the HTRA1 -625A allele with exudative AMD in a Central European population. METHODS: The present case-control study included 242 patients with exudative AMD and 157 control subjects. Genotypes of the HTRA1 -625G>A polymorphism were determined by a 5'-exonuclease assay (TaqMan). Determination of CFH Y402H genotypes was done by allele specific digestion of polymerase chain products. RESULTS: Carriers of the HTRA1 -625AA genotype were found significantly more often in AMD patients than among control subjects (27.7% versus 5.1%; p<0.001). Binary logistic regression analysis binary logistic regression analysis revealed an odds ratio (OR) of 2.7 (95% confidence interval (CI): 1.1-6.8) for AMD among subjects heterozygous for the HTRA1 -625A allele compared to those with the wildtype genotype, when adjusted for CFH Y402H genotypes (p=0.034). The OR increased to 10.2 (95% CI: 3.0-34.5) among subjects homozygous for the HTRA1 -625A allele (p<0.001). The OR for AMD among heterozygous carriers of the CFH 402H variant was 3.6 (95% CI: 1.6-7.8) compared to those with the wildtype genotype, when adjusted for HTRA1 -625G>A genotypes (p=0.001). The OR increased to 9.8 (95% CI: 3.7-25.9) among subjects homozygous for the CFH 402HH genotype (p<0.001). Interaction terms between CFH and HTRA1 genotypes were not significantly associated with AMD. CONCLUSIONS: Our data suggest that both the HTRA1 -625A allele and the CFH 402H allele are independently associated with exudative AMD in a Central European population.
- Find related publications in this database (using NLM MeSH Indexing)
- Adenine -
- Aged -
- Aged, 80 and over -
- Complement Factor H - genetics
- Europe - genetics
- European Continental Ancestry Group - genetics
- Female - genetics
- Genetic Predisposition to Disease - genetics
- Genotype - genetics
- Guanine - genetics
- Humans - genetics
- Macular Degeneration - enzymology
- Male - enzymology
- Middle Aged - enzymology
- Odds Ratio - enzymology
- Polymorphism, Single Nucleotide - genetics
- Promoter Regions (Genetics) - genetics
- Serine Endopeptidases - genetics