RGD Reference Report - Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration. - Rat Genome Database

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Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration.

Authors: Lechanteur, YT  Van de Ven, JP  Smailhodzic, D  Boon, CJ  Klevering, BJ  Fauser, S  Groenewoud, JM  Van der Wilt, GJ  Den Hollander, AI  Hoyng, CB 
Citation: Lechanteur YT, etal., Invest Ophthalmol Vis Sci. 2012 Aug 24;53(9):5846-52. doi: 10.1167/iovs.11-7731.
RGD ID: 8662321
Pubmed: PMID:22815349   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.11-7731   (Journal Full-text)

PURPOSE: This study was conducted to investigate the correlation of genetic, sociodemographic, and behavioral risk factors with second eye progression to end-stage AMD. METHODS: One hundred and eight patients with end-stage AMD in one or both eyes were included in a retrospective time-to-event analysis of the onset of end-stage AMD in the second eye. Multivariate Cox regression survival analysis was performed for sex, age, smoking, body mass index (BMI), education, and 16 single nucleotide polymorphisms (SNPs) associated with AMD. RESULTS: Except for education, all sociodemographic and behavioral risk factors analyzed were significantly associated with a more rapid progression toward second eye involvement. Hazard ratios (HRs) were 2.6 (95% confidence interval [CI], 1.4-5.0) for female sex; 5.0 (95% CI, 2.0-12.5) for age >80; 2.2 (95% CI, 1.1-4.1) for BMI >30; and 4.4 (95% CI, 1.4-14.3) for >40 pack years, compared with the referent groups. Carriers of the lipoprotein lipase (LPL; rs12678919) risk alleles were at risk for more rapid progression to end-stage AMD in the second eye compared with the referent wild-type genotype (HR 2.0; 95% CI, 1.0-3.6). For complement factor I (CFI; rs10033900), homozygous carriers of the risk allele progressed faster than wild-type individuals (HR 2.2; 95% CI, 1.1-4.3). CONCLUSIONS: Sociodemographic, behavioral, and genetic risk factors are associated with the rate of second eye progression toward end-stage AMD. The findings of this study underline the importance of lifestyle factors and the complement pathway in AMD progression and suggest a role of the high-density-lipoprotein metabolism in second eye progression.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
macular degeneration disease_progressionIAGP 8662321DNA:SNP:intron:g.110659067T>C (rs10033900) (human)RGD 
macular degeneration disease_progressionISOCFI (Homo sapiens)8662321; 8662321DNA:SNP:intron:g.110659067T>C (rs10033900) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Macular degeneration disease_progressionIAGP 8662321DNA:SNP:intron:g.110659067T>C (rs10033900) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cfi  (complement factor I)

Genes (Mus musculus)
Cfi  (complement component factor i)

Genes (Homo sapiens)
CFI  (complement factor I)


Additional Information