rs116350483 (LINC01412): Retinal Photoreceptor Thickness

Key takeaways

• rs116350483 near LINC01412 is associated with the thickness of photoreceptor cells in the retina, measured by an eye-scanning technique called optical coherence tomography (OCT).
• The study used UK Biobank data, making it one of the largest genetic studies of retinal photoreceptor structure published at the time.
• Many of the 111 loci found in this study are near genes known to cause rare inherited blindness disorders, suggesting shared biological pathways.
• Specific effect sizes and which photoreceptor sublayer is affected by this variant are not reported in the available study text.
• Evidence comes from a single study and independent replication has not been confirmed in the provided sources.

What the research says rs116350483, located near LINC01412 (a long intergenic non-coding RNA that does not produce proteins), was identified in a genome-wide association study of photoreceptor cell (PRC) morphology that measured the thickness of three retinal sublayers - the outer nuclear layer (ONL), inner segment (IS), and outer segment (OS) - from OCT images collected in the UK Biobank. The study, described as the largest GWAS of PRC morphology at time of publication, identified 111 loci associated with PRC layer thickness, including 27 loci with no prior associations to any ocular phenotype. Across the full set of 111 loci, the study found a significant enrichment for genes involved in rare inherited eye diseases, particularly retinitis pigmentosa (a group of inherited disorders causing progressive vision loss), suggesting that common genetic variation at these loci may relate to the same biological pathways disrupted in those rare conditions.

Reported associations

• Photoreceptor cell layer thickness: rs116350483 near LINC01412 was identified as one of 111 loci associated with the thickness of one or more photoreceptor cell sublayers as measured by OCT in UK Biobank participants; the specific sublayer affected and the effect size for this variant are not specified in the available study excerpt.

Evidence quality The association for rs116350483 derives from a single genome-wide association study of photoreceptor morphology using UK Biobank participants, described as the largest such study at the time of publication. The study identified 111 total loci across PRC layer thickness phenotypes. The specific p-value, effect size, and sublayer association for this variant are not reported in the available study excerpt, which limits the ability to assess its individual significance within the broader set of findings. LINC01412, the nearest gene, is a long intergenic non-coding RNA with no well-characterized retinal function described in the provided study text, limiting mechanistic interpretation. No independent replication data for this variant is present in the provided sources. This evidence should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.