Illumina Omni5 SNP chip genotyping of MacTel cases and unaffected controls for a genome-wide association study

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). We genotyped 704 samples, of which 678 have consented to be available here. These samples mainly include MacTel cases but also some unaffected controls (often spouses). The samples were collected through the MacTel Project (funded by the Lowy Medical Research Institute), which includes a registry and extensive clinical analysis to confirm the presence of MacTel in affected individuals. Additional controls were obtained from dbGap [phs000429.v1.p1]. After QC steps, the GWAS utilised 476 cases and 1733 controls of European ancestry.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00010001204	MacTel Projet consortium case and control genotypes from Ilumina Omni5 chip	Illumina Omni5	1

Publications	Citations
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. Bonelli R, Jackson VE, Prasad A, Munro JE, Farashi S, Heeren TFC, Pontikos N, Scheppke L, Friedlander M, MacTel Consortium, Egan CA, Allikmets R, Ansell BRE, Bahlo M. Commun Biol 4: 2021 274	14
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression. Bonelli R, Ansell BRE, Lotta L, Scerri T, Clemons TE, Leung I, MacTel Consortium, Peto T, Bird AC, Sallo FB, Langenberg C, Bahlo M. Genome Med 13: 2021 39	8