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Scientists have identified several new badociations between genes and age-related macular degeneration, providing "a more detailed picture of genetic contributions to AMD," according to a press release from the National Institutes of Health.
The collaborative study led by scientists from the National Eye Institute has been published in Nature Genetics.
Previously, genome-wide badociation studies identified genetic variants badociated with 34 loci and 52 genetic variants within loci, significantly badociated with AMD. In this badysis, the researchers examined whether variants could regulate genes relevant to AMD, depending on the version.
"If we conducted a criminal investigation, previous research would have located different crime syndicates in 52 streets with 34 postal codes. These latest discoveries identify real suspects – direct targets on which we can investigate more closely ", lead researcher of the study Anand Swaroop, PhD, head of the neurobiology-neurodegeneration and repair laboratory at NEI, said in the statement.
The researchers studied the retinal tissue of cadaver eyes with and without AMD. After badysis with quantitative trait loci, the researchers found likely target genes on six reported loci. Three additional genes, RLBP1, HIC1 and PARP12, have been identified after correction of Bonferroni, according to the abstract of the article. Among the most plausible target genes were B3GLCT and BLOC1S1, which may affect cellular functions related to AMD.
The researchers developed a database on retinal gene expression called EyeGEx. The database is designed as a resource for the interpretation of post-genomic badociations for the interpretation of multifactorial eye features, according to the abstract.
References:
NIH researchers are focusing on genes related to age-related macular degeneration. www.nih.gov/news-events/news-releases/nih-researchers-home-genes-linked-age-related-macular-degeneration. Published February 11, 2019. Accessed February 13, 2019.
Ratnapriya R, et al. Nature Genet. 2019; doi: 10.1038 / s41588-019-0351-9.
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