Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.
Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.
Increasing levels of glucose-6-phosphate dehydrogenase deficiency are associated with decreasing risk of cerebral malaria, but with increased risk of severe malarial anaemia.
Natural variation for an adaptively important life history trait is largely due to variation at a single, major-effect locus with multiple alleles, demonstrating that not all complex traits are massively polygenic.
Neolithic was a turning point for immune responses in Europeans, favoring tolerance against intracellular pathogens, promoting inflammation against extracellular microbes, and being related to current auto-immune diseases.
Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
The relationship between APOE genotype and disease risks may be environmentally moderated, with APOE4 being less harmful and unlikely to increase cardiometabolic risk in a physically active, energy-limited population.
