Mutation Wish List
A running wish-list of human genotypes
| UPDATED
UPDATE 02/20/2012: Added 20 more genes
UPDATE 06/03/2014: Added a MUCH-overdue update
UPDATE 01/07/2015: Tumblr’s Dead. Making a long-overdue migration
UPDATE 04/19/2016: Oh Hell, I wasn’t expeting people to try implementing some of these while CRISPR is in its infancy. Added a much-needed “Potential Negatives” Column.
UPDATE 03/25/2019: Okay another site migration. Medium’s Dying. Don’t fail us now Gastsby.js!
UPDATE 01/25/2020: Updated the section clarifying what traits this post is NOT covering
UPDATE 04/23/2020: Added a link to a resource on a few edge cases regarding improvements in longevity in humans (namely the precise combinations of genes that synergistically result in longevity changes)
Multigenic traits can have single gene variants (often rare in populations) with large impacts.
Genotype Key:
- -/- means double-null for the gene (from both mother and father).
- +/- means one copy ok (+) and one broken (-) is sufficient to have a positive impact.
-
The rest require very specific sequences to see the positive effect.
- For example E6V means that at position 6 an “E” (Glutamate amino acid codon GAG) is mutated into a “V” (Valine codon GTG).
This will likely be updated as time goes on (and more recommendations, as well as updated news about certain genes already in this list, are always welcome).
Gene | Genotype | Protective, resilient or extreme effects | Potential Negatives | Source |
---|---|---|---|---|
ABCC11 | -/- | Low odor production | unknown | link |
ACTN3 | unknown | Super-sprinter | Endurance | link |
ADH1B | unknown | Alcoholism resistance | unknown | link |
ADH4 | unknown | Drug Tolerance | Drug Addiction (see Ozzy Osbourne) | link |
ADIPOQ | unknown | Resistance to Artery Hardening | unknown | link |
ADRB1 | A187V | Less sleep | unknown | link |
ALDH2 | *2 variant | Less flushing after drinking | Greater risk of esophageal cancer | link |
AMPK | unknown | Diabetes resistance, endurance running | unknown | link |
ANGPTL3 | -/+ | Lipid and cardiac health | unknown | link |
APOA1 | R173C/+ | Low HDL & CVD | unknown | link |
APOE | E2/E2 | Low Alzheimer’s (E2=R112C, R158C) | unknown | link |
APOL1 | +/- | Trypanosoma brucei resistance | unknown | link |
APP | A673T/+ | Low Alzheimer’s | unknown | link |
AS3MT | unknown | Arsenic Clearance | unknown | link |
BDKRB2 | a/g expression | Deep Diving | unknown | link |
BDNF | unknown | Coffee more rewarding | Caffeine addiction | link |
BHLHE41 = DEC2 | P385R/+ | Less sleep | unknown | link |
CCR5 | -/- | HIV resistance | W.Nile Virus & flu; bone | link |
CD33 | unknown | Alzheimer’s Protection | unknown | link |
CETP | unknown | Longevity, Low Cholesterol | unknown | link |
CFTR | +/- | TB or other resistance | unknown | link |
DRD4-7R | unknown | Adventurousness | unknown | link |
EGLN1 | a/g | High altitude | unknown | link |
EPAS1 | 3.4kb del | High altitude | unknown | link |
EPOR | W439X | High oxygen transport | unknown | link |
FAAH-OUT | del/del | Pain insensitive | Unnoticed harm | link |
FBN1 | unknown | Super Flexibility (Marfan Syndrome) | Cardiovascular disease | link |
FOXC2 | unknown | Long Eyelashes (elizabeth Taylor) | Eye problems | link |
FOXO3 | unknown | Longevity | unknown | link |
FUT2 | -/- | Norovirus resistance | Crohn’s disease | link |
GHR,GH | -/- | Lower Cancer incidence | Smaller Stature | link |
GLUK4 | del/+ | Low bipolar, high cognitive | unknown | link |
GRIN2B | unknown | Enhanced Memory & Learning | Autism | link |
HBB | E6V/+ | Malaria resistance | Exertional rhabdomyolysis | link |
HBC | unknown | Malaria resistance | Anemia | link |
hDEC2 | unknown | More efficient Sleep | unknown | link |
HEXA | +/- | TB resistance | Tay-Sachs carrier | link |
HLA-DRB1 | *04:04 | Tanned Look | Addison’s Disease | link |
HOXA11 | unstated | Augmented manipulation ability with six-fingered hands | Gloves not fitting | link |
HSD17B13 | +/TA(lof) | Low Chronic Liver Disease | unknown | link |
HSP70/HT1080 | unknown | Heat resistance (?) | unknown | link |
IFIH1 = MDA5 | E627X/+ | Low T1 Diabetes | unknown | link |
IFNL4 | dG/TT | High Hepatitis C virus clearance | unknown | link |
IL23R | R381Q/+ | IBD: Crohn’s disease, Ulcerative colitis | unknown | link |
LRP5 | G171V/+ | Extra-strong bones | Low Buoyancy | link |
LRRTM1 | unknown | Ambidextrous | Schizophrenia risk | link |
MCM6 | unknown | Lactose Tolerance | unknown | link |
miR-29b | overproduction | (human cells) Low Alzheimer’s | unknown | link |
MSTN | -/- | Large, lean muscles, low atherosclerosis | unknown | link |
MTHFR | A222V | High altitude | unknown | link |
NGF | overproduction | (human) Low Alzheimer’s | unknown | link |
NPC1 | unknown | Ebola Resistance | unknown | link |
NPSR1 | Y206H/+ | Less sleep | unknown | link |
NRF2 | AA+, C/T | Endurance Running | Reduced Sprinting ability | link |
NTRK1 | del/del | Pain insensitive, no sweat | Unnoticed harm, hyperthermia | link |
OPN1MW | unknown | Tetrachromacy | unknown | link |
OPN1MW2 | unknown | Tetrachromacy | unknown | link |
PCSK9 | -/- | Low coronary disease | Diabetes, Low cognition | link |
PDE10A | c/t incr thyroxine | Breath-hold diving | unknown | link |
PKU | +/- | Ochratoxin resistance | unknown | link |
PPARA | unknown | Low-oxygen resistance (Hyperbaric chamber) | unknown | link |
PRNP | G127V | Prion resistance | unknown | link |
SCN9A | -/- | Pain insensitive | Unnoticed harm | link |
SGK1 | unknown | Protection against Parkonson’s | unknown | link |
SLC6A4 | unknown | Coffee more rewarding | Caffeine addiction | link |
SLC30A8 | -/+ | Low T2 Diabetes | unknown | link |
TAS2R38 | unknown | Enhanced Taste | Super-taste extends to foul food | link |
TBX15/IL-10 | unknown | Cold resistance (?) | unknown | link |
Note 1: Some of the above studies need independent reproduction.
Note 2: Lower case a,c,g,t are nucleotide variants (typically regulatory), while uppercase indicated amino acid variants.
Note 3: Some traits, such as being a musical or artistic prodigy, have no known specific genetic associations, or have only a tenuous genetic background. As such, they are not included here. Many of these impressive mental feats may be a result of family background (a common theme among many child prodigies), rigorous training (as is the case with many “human calculators”), or making the most of some health problems (it’s known that many artists, especially the impressionists, have had vision problems raning from myopia to missing eye lenses).
Note 4: With few exceptions, it is difficult to tie general intelligence to genetics. This is even considering claims such as Robert Plomin’s announcement in 1997 of the discovery of “a gene for intelligence” on Chromosome 6 (it turns out it was not a “a gene for intelligence” after all). Most genes in this list relating to traits such as memory often have side-effects such as schizophrenia or high risk of autism.
Note 5: For traits like height, there are almost far too many genes to count. Around 9,500 SNPs explain ~29% of phenotypic variance.
Note 6: “Beauty” is controlled by even more genes (which, considering that makeup is a thing that exists, probably aren’t worth the effort)
Note 7: For Human Longevity Genes, there are fewer associated genes than with height or Beauty, but there are still a lot for one list. The Human Longevity Database is a better Source of this info. It currently has 270 different entries for human genes associated with aging
Note 8: That being said, for Human Longevity Genes, there are many known genes that show an effect when combined with other specific alleles. The SynergyAge Database goes into more detail with both synergistic and antagonistic interactions of longevity-associated genes.
Cited as:
@article{mcateer2011mutations,
title = "Mutation Wish List",
author = "McAteer, Matthew",
journal = "matthewmcateer.me",
year = "2011",
url = "https://matthewmcateer.me/blog/mutation-wish-list/"
}
If you notice mistakes and errors in this post, don’t hesitate to contact me at [contact at matthewmcateer dot me]
and I will be very happy to correct them right away! Alternatily, you can follow me on Twitter and reach out to me there.
See you in the next post 😄