Project description:Age-related macular degeneration (AMD) is a complex multifactorial disease with at least 34 loci contributing to genetic susceptibility. To gain functional understanding of AMD genetics, we generated DNA methylation profiles of retina from 160 individuals including both controls and cases at distinct stages of AMD. With genotypes over 8 million common single nucleotide polymorphisms (SNPs) in cis, we identified 37,453 methylation quantitative trait loci (mQTL) and by integrating transcriptome of the same samples we identified 12,505 eQTLs and 13,747 DNAm sites that affect gene expression (eQTMs). We then integrated the AMD-genome-wide association studies (GWAS) data with mQTLs and eQTLs ascertained 87 target genes that may contribute to AMD risk. Our studies expand the methylation landscape of retina and AMD leading to direct targets for biological evaluation.

2023-09-11 | GSE231536 | GEO

Methylation data from nine tissues from GTEx samples profiled with Infinium HumanMethylationEPIC BeadChip

Project description:Genome wide DNA methylation profiling of tissue samples from GTEx donors. The Infinium HumanMethylationEPIC BeadChip was used to obtain DNA methylation profiles across approximately 850,000 CpGs sites from 1000 tissue samples.

2022-09-16 | GSE213478 | GEO

Whole exome analyses to examine the impact of rare variants on left ventricular traits in African American participants from the HyperGEN and GENOA studies.

Project description: Not available

| S-EPMC5831560 | biostudies-literature

Gene expression data from lymphoblastoid cell lines from participants in the Genetics of Microangiopathic Brain Injury study

Project description:European-American individuals of the GENOA cohort participating in the “Genetics of Microangiopathic Brain Injury” substudy, which investigates the genetic basis of alteration in brain structure detectable by magnetic resonance imaging. This analysis investigated the association of gene expression with age (at the time of cell transformation). Participants in this study are drawn from the GENOA study, a population-based study from Rochester, MN

2013-09-15 | E-GEOD-49531 | biostudies-arrayexpress

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