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Researchers link genes to AMD

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Scientists have identified several new associations between genes and age-related macular degeneration, providing “a more in-depth picture of the genetic contributions to AMD,” according to a news release from the National Institutes of Health.

The collaborative study, led by National Eye Institute scientists, was published in Nature Genetics.

Previously, genome-wide association studies identified genetic variants at 34 loci and 52 genetic variants within the loci that were significantly associated with AMD. In the current analysis, the researchers examined whether the variants might regulate AMD-relevant genes, according to the release.

“If we were conducting a criminal investigation, prior research would have localized different crime syndicates to 52 streets within 34 zip codes. These latest findings identify actual suspects — direct targets that we can more closely investigate,” lead study investigator Anand Swaroop, PhD, chief of the Neurobiology-Neurodegeneration and Repair Laboratory at NEI, said in the release.

The researchers studied retinal tissue from cadaver eyes with and without AMD. After analysis with expression quantitative trait loci, the researchers found likely target genes at six reported loci. Three additional genes, RLBP1, HIC1 and PARP12, were identified after Bonferroni correction, according to the article abstract. Among the most plausible target genes were B3GLCT and BLOC1S1, which could affect AMD-related cell functions.

The researchers developed a database of retinal gene expression called EyeGEx. The database is intended as a resource for post-genome-wide association studies interpretation of multifactorial ocular traits, according to the abstract.

References:

NIH researchers home in on genes linked to age-related macular degeneration. www.nih.gov/news-events/news-releases/nih-researchers-home-genes-linked-age-related-macular-degeneration. Published Feb. 11, 2019. Accessed Feb. 13, 2019.

Ratnapriya R, et al. Nature Genet. 2019;doi:10.1038/s41588-019-0351-9.