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Genome-wide analyses identify common variants associated with macular telangiectasia type 2
- Source :
- Nature Genetics. 49:559-567
- Publication Year :
- 2017
- Publisher :
- Springer Science and Business Media LLC, 2017.
-
Abstract
- Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10-8) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10-17; rs715 at 2q34, P = 9.97 × 10-14; rs477992 at 1p12, P = 2.60 × 10-12) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10-6) and serine (P = 2.48 × 10-4) between MacTel cases and controls.
- Subjects :
- Adult
Male
0301 basic medicine
Adolescent
Locus (genetics)
Genome-wide association study
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
White People
Young Adult
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Blood serum
Genetics
Genetic predisposition
medicine
Humans
Genetic Predisposition to Disease
Child
Aged
Macular telangiectasia
Aged, 80 and over
Retinal
Middle Aged
medicine.disease
Molecular biology
030104 developmental biology
chemistry
Genetic Loci
Child, Preschool
030221 ophthalmology & optometry
Retinal Telangiectasis
Female
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 49
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....b8c7ca7afb8f248ccdc1670a8f519065