My Immortalized Cells My DNA Sequence Salient Features of My DNA  

Salient Features of My DNA

In the table below I have pulled out some interesting sequences in my DNA. "SNPs" are short unique sequences of DNA commonly differing among people with commonly-accepted associations with health. I have linked the SNPs to BioTime's GeneCards website for more information. Note, my participation in BioTime's R&D was as a volunteer in a research project and none of the information below should be considered medical advice. You should only make medical decisions based on consultation with your physician.

 
SNP Genotype Gene Comment
rs5882 G/G CETP This genotype is associated with the significantly longer lifespan of the carrier. Coincidentally, carriers of this genotype possess much better cognitive function.  Homozygous G alleles are associated with as much as 70% less risk of Alzheimer's disease.
rs4680 A/A COMT People with A alleles in this genotype are associated with advantage in attention and memory tasks. Interestingly, people with this genotype are more difficult to hypnotize. Please see a New York Times article on the COMT gene and its genotypes.
rs1566439 C/C NLRC5 region People with C alleles in this genotype are associated with the increase in good cholesterol (HDL).
rs6920220 A/G TNFAIP3 This may be related to the gene TNFAIP3 which is reported to be a negative regulator of the gene NF-κB, an important factor causing inflammation and tissue damage. People with this DNA type have been reported to have about a 20% increased risk of developing rheumatoid arthritis.
rs7754840 C/C CDKAL1 According to GeneCards, the function of this gene is not known, but this version is reported to be involved in 1.3x increased risk for type-2 diabetes.
rs9934438 A/A VKORC1 This SNP is in the gene VKORC1. VKORC1 makes a protein that is a target for blood thinner drug called warfarin. Based on the version of this gene people carry, physicians may one day determine the daily dosage of the drug to best meet the needs of patients.
rs1799971 A/G OPRM1 Differences in this opioid receptor gene are reported to effect sensitivity to opioid drugs. 
rs16969968 A/G CHRNA5 This version of the DNA is reported to be associated with nicotine dependance, but lowers the probability of cocaine dependence.
rs964184 G/G ZNF259 Carriers associated with increased risk of hypertriglyceridemia.
rs2383207 G/G CDKN2B-AS1 DNA with "G" types from both parents  is reportedly associated with increased risk for heart disease.
rs3746444 T/T MIR499A Genotype associated with generally decreased risk of developing cancer.
rs261360 A/A N/A Associated with straighter hair in people of European ancestry.
rs3802842 C/C COLCA2 This genotype is reportedly associated with a modest, 17% increased risk of colorectal cancer.
rs4474514 G/G KITLG

3-7x increase in risk of development of testicular tumor. Genotype very frequent in population with Northern and Western European ancestry.

rs2143340

C/T

TDP2

Presence of C in this genotype is associated with higher risk of dyslexia in some people.

rs2241880 C/T ATG16L1

This genotype is associated with 1.4x increased risk for Crohn's disease in Caucasian population. The form of the gene is reported to correlate with stress on Paneth cells in the intestine and is reported to possibly  result in intestinal fistulas and the need for surgery.

rs7107418

A/G

OR6A2 proxy Carriers of A allele in this genotype, located in the proximity of the gene for Olfactory Receptor 6A, are associated with decreased chance that they dislike the taste of cilantro, perceiving that it tastes like soap, or dirt.
rs7221412 A/G PER1 proxy

This is one of polymorphisms near a Period Circadian Clock 1 (PER1) gene, which has an influence on the brain’s perception on the time of day and therefore the sleep cycle and wake-up time. Person with A/G genotype wakes up at a time between the A/A and G/G genotypes.

rs7305115           A/A TPH2 

Having the “A” version of the gene on the DNA from both mother and father (A/A genotype) is associated with much less suicide instances then carriers of a “G” version of the gene.

rs1042602           A/A TYR

The TYR gene is involved in pigmentation. It is typically not expressed in albinos. Having the “A” version of the gene on the DNA from both mother and father (A/A genotype) of this SNP is associated with the absence of freckles in carrier. It is also potentially associated with risk of peripheral artery disease.

rs910873              A/G PIGU

The “G” version of this gene is associated with modest increased risk in developing melanoma.

rs2383206           G/G          CDKN2B-AS1

The gene CDKN2B-AS1 is of particular interest to those interested in aging because it is located in a cluster of genes that show very strong associations with risk for heart disease, Alzheimers, and other age-related diseases. The CDKN2B gene is implicated as “brake” on the cell’s ability to replicate, and is therefore downstream of the telomere clock of cell aging. The gene If combined with the high blood sugar, carriers of this genotype are up to 7 times more prone to developing coronary artery disease.

rs37973                 A/G           GLCCI1

In asthmatic patients, carriers of DNA having one “A” from one parent and a “G” from the other (A/G genotypes) have 50% more chance to experience lesser response to inhaled glucocorticoid drugs.

rs12571093        A/A ATOH7

This is an interesting one for dinner conversation - The “A” version of the gene is believed to be ancestral to Neanderthal DNA (A/A). Perhaps more relevant and informative, genome-wide association studies identifies the gene ATOH7 as a major gene determining human optic disc size and can be involved in certain diseases of the eye.

rs2305795           A/A           P2RY11 

This version of the DNA has been reported to be associated with immune cell function, and different versions of the gene may be associated with risks of narcolepsy. Compared to A/G genotype, my A/A version has been reported to be associated with a 1.3x higher risk of developing narcolepsy.

rs12913832        G/G          HERC2 Carriers like me with “G” type DNA from both parents (G/G) are 99% of the time associated with blue eye color.
rs759178              G/G          CNTNAP2

This gene has been studied for possible association with speech development and autism. Carriers of G allele have been reported to be associated with risk of delay in speech development.

rs1160312           G/G LOC100270679

Very little is known about this gene (hence it doesn’t have a final name, only a location designation). Having the “G” version of the gene has been reported to be associated with reduced risk of baldness.

(rs4988235
or
(rs4988235
or
(rs182549
or
(rs182549

C/T)

T/T)

C/T)

T/T)

N/A People without this combination are more likely to be lactose intolerant.
(rs762551
and
(not (rs12720461
not (rs2069526
not(rs28399424
A/A)

T),
G),
T))
N/A Caffeine is metabolized fast, so carrier is less stimulated by it.
(rs10246939
or
(rs713598
or
(rs1726866
C)

C)

C)
N/A Carrier has normal ability to taste bitter. This means that, for the carrier, cabbage, broccoli, etc. doesn't taste bland.