Michael R. James

TL;DR: A genome-wide association study of single nucleotide polymorphisms genotyped in 1738 MDD cases and 1802 controls selected to be at low liability for MDD found 11 signals localized to a 167 kb region overlapping the gene piccolo, whose protein product localizes to the cytomatrix of the presynaptic active zone and is important in monoaminergic neurotransmission in the brain.

TL;DR: Amongst individuals with a R/R genotype (but not R/r), those who also had brown eyes had a mole count twice that of those with blue eyes, which suggests that other OCA2 polymorphisms influence mole count and remain to be described.

TL;DR: The minor population impact of the nonsynonymous coding-region polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the tight linkage of the major TGT haplotype within the intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggest that differences within the 5' proximal regulatory control region of the OCA1 gene alter expression or messenger RNA-transcript levels and may be responsible for these associations.

TL;DR: The findings argue the need for much larger samples than anticipated in genetic association studies and that the biological basis of emotional disorders is extremely complex.

TL;DR: Comparison of the in vitro receptor characteristics with skin and hair colour data of individuals both homozygous and heterozygous for MC1R variant alleles revealed parallels between variantMC1R cell surface expression, functional ability, dominant negative activity and their effects on human pigmentation.