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Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration
- Source :
- Genes and immunity
- Publication Year :
- 2010
- Publisher :
- Springer Science and Business Media LLC, 2010.
-
Abstract
- Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. We conducted a genome-wide association study in a series of families enriched for AMD and completed a meta-analysis of this new data with results from reanalysis of an existing study of a late-stage case-control cohort. We tested the top findings for replication in 1896 cases and 1866 controls and identified two novel genetic protective factors for AMD. In addition to the complement factor H (CFH) (P=2.3 × 10⁻⁶⁴) and age-related maculopathy susceptibility 2 (ARMS2) (P=1.2 × 10⁻⁶⁰) loci, we observed a protective effect at rs429608, an intronic SNP in SKIV2L (P=5.3 × 10⁻¹⁵), a gene near the complement component 2 (C2)/complement factor B (BF) locus, that indicates the protective effect may be mediated by variants other than the C2/BF variants previously studied. Haplotype analysis at this locus identified three protective haplotypes defined by the rs429608 protective allele. We also identified a new potentially protective effect at rs2679798 in MYRIP (P=2.9 × 10⁻⁴), a gene involved in retinal pigment epithelium melanosome trafficking. Interestingly, MYRIP was initially identified in the family-based scan and was confirmed in the case-control set. From these efforts, we report the identification of two novel protective factors for AMD and confirm the previously known associations at CFH, ARMS2 and C3.
- Subjects :
- Adult
macular degeneration
Genotype
Immunology
Vesicular Transport Proteins
Locus (genetics)
Single-nucleotide polymorphism
Genome-wide association study
Biology
Polymorphism, Single Nucleotide
Complement factor B
Article
03 medical and health sciences
0302 clinical medicine
Genetics
medicine
Humans
Allele
Alleles
Genetics (clinical)
Aged
030304 developmental biology
Aged, 80 and over
0303 health sciences
Complement component 2
DNA Helicases
Proteins
Middle Aged
Macular degeneration
medicine.disease
association testing
melanosome trafficking
eye diseases
3. Good health
Complement Factor H
Factor H
030221 ophthalmology & optometry
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 14765470 and 14664879
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Genes & Immunity
- Accession number :
- edsair.doi.dedup.....c0fcc8bbc713f022181c865ac7d85516