Summary
This thesis investigates genetic variants in the CtBP2/RIBEYE gene in anorexia nervosa patients and obese controls, finding genome-wide significant association with BMI variation. The retinal component RIBEYE was found expressed in mouse hypothalamus at the mRNA level, though its functional role in weight regulation remains unclear and has limited direct implications for lighting design.
Key Findings
- 41 sequence variants detected in CtBP2/RIBEYE across 95 AN patients and 92 obese controls; all 24 coding variants located in the RIBEYE-specific first exon
- Val234Met (rs3781409) showed nominal association with AN via family-based TDT: BMI-increasing allele T transmitted at 60% rate in AN trios (p=0.06), not significant in obesity trios (transmission rate 49%, p=0.61)
- Look-up in largest BMI GWAS (Yengo et al., 2018) revealed genome-wide significant association; effects more pronounced in females than males
- Ribeye-mRNA detected in hypothalamus of wild-type mice but RIBEYE protein was not detected, leaving its role in weight regulation unconfirmed
Categories
Eye Health & Vision: RIBEYE is a major component of synaptic ribbons in retinal sensory cells, and the CtBP2/RIBEYE gene variants investigated here are expressed in retinal tissue, making this relevant to retinal biology.
Author(s)
J Giuranna
Publication Year
2019
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