Age-Related Macular Degeneration and Extramacular Drusen: Genetic Associations in the Coimbra Eye Study.

Purpose: To explore the association between the genetics of age-related macular degeneration (AMD) and extramacular drusen (EMD) in patients with and without AMD. Methods: We included 1753 eyes (912 subjects) with phenotypic characterization regarding AMD and EMD. Genetic sequencing and the genetic risk score (GRS) for AMD were performed according to the EYE-RISK consortium methodology. To test for differences in the GRS from EMD cases, AMD cases, and controls, a clustered Wilcoxon rank-sum test was used. The association of AMD, EMD, and the GRS was evaluated using logistic regression models adjusted for age and sex. Individual associations of common risk variants for AMD with EMD were explored. Results: EMD were found in 755 eyes: 252 (14.4%) with AMD and 503 (28.7%) without. In total, 122 eyes (7.0%) had only AMD, and 876 (50.0%) were controls. EMD were strongly associated with AMD (odds ratio [OR], 3.333; 95% confidence interval [CI], 2.356-4.623; P < 0.001). The GRS was associated with an increased risk of AMD (OR, 1.416; 95% CI, 1.218-1.646; P < 0.001) but not with EMD. Individually, the common risk variants ARMS2 rs10490924 (P = 0.042), C3 rs2230199 (P = 0.042), and CETP rs5817082 (P = 0.042) were associated with EMD, after adjustment for AMD, sex, and age. Conclusions: We found a strong association between EMD and AMD, suggesting a common pathogenesis. The GRS for AMD was not associated with EMD, but a partially overlapping genetic basis was suggested when assessing individual risk variants. We propose that EMD per se do not represent an increase in the global genetic risk for AMD.

Social justice in medical education: inclusion is not enough-it's just the first step.

INTRODUCTION: Medical schools worldwide are creating inclusion policies to increase the admission of students from vulnerable social groups. This study explores how medical students from vulnerable social groups experience belongingness as they join the medical community. METHODS: This qualitative study applied thematic analysis to 10 interviews with medical students admitted to one medical school through an affirmative policy. The interviews followed the drawing of a rich picture, in which the students represented a challenging situation experienced in their training, considering their socio-economic and racial background. The analysis was guided by the modes of belonging (engagement, imagination, and alignment) described by the Communities of Practice framework. RESULTS: Participants struggled to imagine themselves as future doctors because they lack identification with the medical environment, suffer from low self-esteem, aside from experiencing racial and social discrimination. Participants also find it troublesome to engage in social and professional activities because of financial disadvantages and insufficient support from the university. However, participants strongly align with the values of the public health system and show deep empathy for the patients. DISCUSSION: Including students with different socio-economic and racial backgrounds offers an opportunity to reform the medical culture. Medical educators need to devise strategies to support students' socialization through activities that increase their self-esteem and make explicit the contributions they bring to the medical community.