Matthew Brooks

TL;DR: The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.

TL;DR: A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis.

TL;DR: A genome-wide association scan for age-related macular degeneration (AMD) showed that 329 of 331 individuals with the highest-risk genotypes were cases, and 85% of these had advanced AMD, consistent with the hypothesis that HDL metabolism is associated with AMD pathogenesis.

TL;DR: It is proposed that rs10490924 SNP represents a major susceptibility variant for AMD at 10q26, which has a highly conserved ortholog in chimpanzee, but not in other vertebrate sequences and encodes a 12-kDa protein, which localizes to the mitochondrial outer membrane when expressed in mammalian cells.

TL;DR: The Maf-family transcription factor Nrl is a key regulator of photoreceptor differentiation in mammals and it is shown that a 2.5-kb Nrl promoter segment directs the expression of enhanced GFP specifically to rod photoreceptors and the pineal gland of transgenic mice.