Purpose: The burden of glaucoma disease among Hispanics is significantly higher than in their white counterparts. It remains unclear to what extent these differences are determined by genetic factors in Hispanics. We therefore examined a highly inbred family population-based cohort in Venezuela to estimate the proportion of genetic contribution of ocular traits relevant to glaucoma disease.
Methods: A subset of 67 participants ≥40y from the Maracaibo Aging Study (MAS) with family pedigree were randomly included. The papillary retinal nerve fiber layer (RNFL) and macular thickness were measured with Spectralis Domain-OCT. Heritability analyses (h2, expressed as %) were performed using the variance components approach as implemented in the software package Sequential Oligogenic Linkage Analysis Routines. A likelihood ratio test was used to test whether the heritability of a given phenotype was significantly (P
Results: Heritability estimates were significant for 13 out of 62 ocular traits analyzed. Total RNFL thickness (h2=0.79, P=0.007 for right eye and h2=0.72, P=0.026 for left eye), as well as thickness of the right eye superior (h2=0.60, P2=0.82, P2=0.86, P2=0.71; P
Conclusions: Several heritability estimates were in the moderate to high range, suggesting this highly inbred cohort may provide insight into the molecular basis of the intermediate ocular traits, which in turn may explain underlying causes of glaucoma.
Gomez, Aaron T.; Maestre, Gladys E.; Melgarejo, Jesus D.; Diego, Vincent P.; Blackburn, Nicholas B.; Yepez, Juan B.; Petitto, Michele; Murati, Felipe A.; Pirela, Rosa V.; Chavez, Carlos A.; Lee, Winston; Al-Aswad, Lama A.; Allikmets, Rando; De Moraes, C. Gustavo; Johnson, Matthew P.; Terwilliger, Joseph D.; Lee, Joseph H.; and Blangero, John, "Heritability of Ocular Traits in Hispanics" (2021). MEDI 9331 Scholarly Activities Clinical Years. 37.
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