Closing the gap between genotype and phenotype.
Making causative connections between genotypic and phenotypic variation is a major challenge for geneticists engaged in the study of human disease. A study drawing this connection for a type 1 diabetes risk locus now demonstrates the importance of focusing on specific quantitative traits and studying them in normal subjects.
Gregersen
Peter K
PK
D015496:CD4-Positive T-Lymphocytes / Q000378:metabolism; D016022:Case-Control Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D015375:Receptors, Interleukin-2 / Q000378:metabolism; D012307:Risk Factors
C508017:IL2RA protein, human; D053645:Interleukin-2 Receptor alpha Subunit; D015375:Receptors, Interleukin-2