The Genetics of Obvious Traits
A considerable fraction of medicine can be practiced without instruments and a considerable fraction of human interest (and well-being) resides in ‘obvious’ traits. Most of these are common, multigenic traits that are considered normal, non-disease, sub-clinical. They are seen as less stigmatizing and less ‘private’, because they can be seen without DNA tests and the alleles are all roughly equally ‘healthy’ (in contrast to cancer, heart, psychiatric diseases which are generally less obvious, and riskier if disclosed). Nevertheless, obvious traits can greatly impact Quality Adjusted Life Years (QALY) in a variety of ways, and can impact studies of common diseases (causal and/or diagnostic). They affect our ability to sense danger, employment options, whether and with whom we associate, our choice of food, etc. The combinations of traits and drugs that are taken might interact with one another (e.g. see Vioxx). Most of these traits are suitable for self-reporting (e.g. height and drug doses) and hence synergistic with drastically lowered costs of genotyping.
These traits are often at obvious interfaces with our environments.and hence study of them helps us appreciate the nature-nuture balance. Many of these are related to ‘identifiability
Church, GM (2005) The Personal Genome Project. Nature EMBO Molecular Systems Biology
McGuire AL, Gibbs RA (2006). Genetics. No longer de-identified. Science. 312:370-1.
Lin Z, Altman RB, Owen AB. (2006) Confidentiality in genome research. Science. 313: 441-2.
Baldness (minoxidil) [alopecia]
Eyes: Near/Far-sightedness (glasses)
Night vision (image intensifier) [night blindnesses]
Face: [Malformation syndromes],
Hirsutism (calcium thioglycolate)
Nose: Size (breathing disorders),
polymorphic chemical sensitivities e.g. PTC taste [TAS2R38]
exhaled aerosols (airborne pathogens)
Skin: Body odor, Perspiration, Pheromones,
Immune components (acne treatments) [acne]
Skin color (impact on vitamin D & sunburn)
Hands: Dermatoglyphics (&syndromes)
Internal sensors: Proprioceptor, Repetitive stress syndrome
Back: Strain sensitivity [IDD] (analgesics)
Feet:
Plantar fasciitis (orthotic shoes)
Athlete’s
foot (miconazole, itraconazole, terbinafine, keratolytic salicylate)
Some
‘Obvious traits’ include more integrated body measures
Height (hGH [short stature]) [tall Marfan]
Weight (phenethylamine [obese]) [anorexia]
Metabolic polymorphisms (vitamins, minerals, insulin)
Sleep & Circadian variation (caffeine, amphetamines, modafinil)
Motion sickness (Dramamine, and Scopolamine)
Allergies (antihistamines, cortisone, epinephrine, theophylline)