In:
Clinical & Experimental Ophthalmology, Wiley, Vol. 43, No. 1 ( 2015-01), p. 47-53
Abstract:
To investigate the association between age‐related macular degeneration ( AMD ) and the polymorphisms of HIF1A , a major vascular epithelial growth factor regulator under hypoxic conditions. The associations of AMD and polymorphisms of genes CFH , SKIV 2 L and MYRIP were also studied. Design Prospective study. Participants Eighty‐seven AMD patients and 80 healthy subjects admitted to the D epartment of O phthalmology at P amukkale U niversity H ospital, D enizli, T urkey, were included: 45 (52%) had wet type AMD , and 42 (48%) had dry type AMD . Methods Polymorphisms rs1061170 ( CFH ), rs429608 ( SKIV 2 L ), rs2679798 ( MYRIP ) and both rs11549465 and rs11549467 ( HIF 1 A ) were investigated in DNA isolated from peripheral blood samples of the cases and controls by dye‐termination DNA sequencing. Main Outcome Measures Genotype distribution of rs1061170 ( CFH ), rs429608 ( SKIV 2 L ), rs2679798 ( MYRIP ) and both rs11549465 and rs11549467 ( HIF 1 A ) in AMD cases and healthy controls; association between genotypes and AMD subtypes. Results Given the significant difference between the mean age of case and control groups (72.13 ± 5.77 vs. 62.80 ± 5.22, respectively) ( P = .000), subsequent analyses were adjusted for age. We found that having at least one C allele for polymorphism rs1061170 increases AMD risk independent of age ( OR = 2.42, 95% confidence interval [ CI ], 1.22–4.81). The ancestral T allele for polymorphism rs1061170 has a protective effect for AMD ( OR = 0.53, 95% CI, 0.34–0.83). No statistically significant difference for distributions of other single nucleotide polymorphisms ( SNP s) emerged between patients and healthy subjects. Conclusions No associations appeared between HIF 1 A SNP s and AMD , which were studied here for the first time; however, polymorphism rs1061170 of the CFH gene is associated with AMD in our population.
Type of Medium:
Online Resource
ISSN:
1442-6404
,
1442-9071
DOI:
10.1111/ceo.2015.43.issue-1
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2094910-8
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