Chromosomes,Genes,SNPs In Neurodivergence
Chromosomes,Genes,SNPs In Neurodivergence
I have been examining my raw data on my chromsomes,genes,snp's from my profile on 23andme.
Rs793862, a SNP in the DCDC2 gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the Caucasian populations studied is (A).
One study reports that the odds ratio for rs793862 genotypes increases if calculated from subsets of more severely dyslexic individuals as compared to more heterogenous, larger groups of dyslexic individuals. The genotype relative risk (GRR) for rs793862(A;A) increased from 3.15 (95% CI 1.30-7.66; P=.011) for the larger group up to 5.40 (95% CI 1.27-23.01; P=.002) for the most severely affected group. [PMID 16385449]
Combined with another SNP marker in the DCDC2 gene, rs807701, the (haplotype) GRR also increased for the homozygous haplotype A-C, from 4.11 (95% CI 2.77-6.08; P<.0001) for the larger group, up to 11.13 (95% CI 6.32-19.60; P<.0001) for the most severely affected group. [PMID 16385449]
This SNP was also reported to be significantly associated in a linkage study of dyslexic individuals. [PMID 15138886]
http://www.snpedia.com/index.php/Rs793862
My Genotype:
AG (increased Dyslexia risk)
Rs2143340, a SNP in the TTRAP gene, is in a region that crops up in several independent studies as likely to associated with dyslexia. The risk allele in the US/UK Caucasian populations studied is (C), and it is indicative of a risk haplotype found in ~18% of the general population but up to ~28% of severely dyslexic individuals. [PMID 15514892]
It is not thought that rs2143340 is a functional SNP; instead, it marks the haplotype known as rs4504469-rs2038137-rs2143340 "1-1-2" since the other two SNPs are the common forms whereas the significant form for rs2143340 is the rare form. The functional effect of this haplotype appears to be on the KIAA0319 gene, in that KIAA0319 gene activity associated with the 1-1-2 risk haplotype is 40% lower than for other haplotypes, and other genes aren't noticeably affected. [PMID 16600991] [PMID 18829873]
http://www.snpedia.com/index.php/Rs2143340
My Genotype:
AG - (increased Dyslexia risk)
I have 2 markers for Dyslexia. I do have Dyslexia.
rs1858830, located in promoter of the MET gene, has been linked to a 2x increase in the risk of autism based on a study of ~700 families.[PMID 17053076]
From OMIM 164860:
"In case-control analysis, the relative risk for autism was 2.27 for the CC genotype and 1.67 for the GC genotype compared to the GG genotype."
http://www.snpedia.com/index.php/Rs1858830
My Genotype:
CG (1.6x increase risk for Autism)
A common SNP in the CNTNAP2 gene, rs7794745, is associated with increased risk for autism based on a study of 148 affected children from families with two more autistic children.[PMID 18179894]
http://www.snpedia.com/index.php/Rs7794745
My Genotype:
AT (slightly increase risk for Autism)
A study of 151 Korean families reported that the rs2745557(A) allele of the PTGS2 gene, also known as cyclooxygenase-2 (Cox-2), was overtransmitted (p<0.01) in autism spectrum disorders.[PMID 18579107]
http://www.snpedia.com/index.php/Rs2745557
My Genotype:
AG (autism risk)
I have 3 genetic markers for Autistic Spectrum, but I have never been diagnosed as having it.
Dyspraxia does have overlapping symptoms/traits with Autistic Spectrum conditions.
The gene COMT has been associated with human pain perception in several studies. This one genotyped 202 female volunteers and measured how responsive they were to several painful stimuli. The researchers found that each A at rs6269 increased a woman’s pain sensitivity.
https://www.23andme.com/you/journal/pre_pain_sensitivity/overview/
My Genotype
AA (increased pain sensitivity)
Neurodivergents including especially autistics tend to have higher than average levels of physical sensitivity because of a highly sensitive nervous system.
I am definitely highly sensitive in all physical senses with my having a highly sensitive nervous system. I am without a doubt have high pain sensitivity.
Neurodivergents often tend to have strengths in long term memory which can help them compensate for having problems with short term memory. Long term memory is important for learning and retaining information.
s1799990, also known as Met129Val or M129V, is a SNP in the prion protein PRNP gene. The more common rs1799990(A) allele encodes the Met (methionine).
Historically, since 1991 this SNP has been associated with risk for sporadic Creutzfeldt-Jakob disease, with homozygotes of both types apparently at increased risk compared to heterozygotes.[PMID 1677164]
More recently, this SNP has been related to long-term memory with (A;A) and (A;G) individuals recalling 17% more words than (G;G) individuals at 24h following learning.[PMID 15987701]
[PMID 18423780] A further study of 12 individuals of each of the 3 possible genotypes showed that at both 30 minutes and 24 hour time lags, correlations between retrieval-related brain activity and retrieval success were negative for (G;) homozygotes (the more activity, the worse retrieval success), while correlations showed no significance or were positive for (A) homozygotes and heterozygotes. These findings suggest that the rs1799990 SNP affects neural plasticity following learning at a time-scale of minutes to hours.
[PMID 16315279] rs1799990(A;G) heterozygotes were significantly overrepresented (age-adjusted odds ratio, 8.47) in 39 individuals with primary progressive aphasia (PPA), a rare condition of unknown cause, compared to 400+ controls.
http://www.snpedia.com/index.php/Rs1799990
My Genotype:
rs1799990 AA (better long-term memory)
I always thought I had a bad short term memory, but I discovered the following:
In this study, the authors asked people to read or listen to lists of words and then recall them later. People with at least one T at rs17070145 performed about 20% better than those with a C at both copies of the SNP five minutes and 24 hours after seeing or hearing the lists. The SNP lies within a gene called KIBRA that is thought to be involved with episodic memory, which involves the recall of events rather than information. (Note: the KIBRA gene is listed in the Genome Explorer as WWC1.)
My Genotype:
TT (slightly increased episodic memory)
When I did my neuropsychological testing in 2006, my visual and verbal immediate memory scores were in the impaired and borderline impaired ranges. The neuropsychologist told me that they had to do with my problems organizing and encoding the information as my scores proved with a time delay which showed that I retained much of what I have learned.
I also wonder if the organizing,sequencing issues of Dyslexia,Dyspraxia,ADHD impacts my short term memory.
In this study, 26 healthy German subjects took a test that assessed their ability to prefer "correct" choices and avoid "incorrect" ones. The authors also genotyped the subjects at the SNP rs1800497, which is thought to affect a gene involved in dopamine signaling. People with the GG genotype learned to avoid negatively reinforced choices relatively easily, while people with the AG or AA genotypes did not learn as well to avoid these "punished" choices; in other words, they did not learn from their mistakes. (Note: Rs1800497 is commonly referred to in the scientific literature as the DRD2 TaqIA polymorphism. The A version of rs1800497 is equivalent to the A1 allele of DRD2 TaqIA, while the G version of the SNP corresponds to the A2 allele.)
https://www.23andme.com/you/journal/pre_avoidance_of_errors/overview/
They've known for some time that creativity, and highly creative people, have higher rates of mental illness and now they found the link: D2 receptor gene–DRD2 TAQ IA. This is rs1800497, and creativity is linked with the A1 allele (T/A). The A allele encodes for less dopamine receptors which is thought to promote creative thinking as "Fewer D2 receptors in the thalamus probably means a lower degree of signal filtering, and thus a higher flow of information from the thalamus".
http://www.snpedia.com/index.php/Rs1800497
My Genotype:
AG (less efficient in avoiding errors, more likely to be creative/divergent thinker as well has mental illness)
I have to admit that I didn't learn from mistakes easily. That goes especially in childhood. I am a creative/divergent thinker. I was misdiagnosed as having schizoaffective bipolar disorder in adulthood. I do have history of depression and anxiety,and so that also fits with mental illness.
A study comparing 752 people with essential tremor to 15,797 controls from Iceland, Austria, Germany and the United States associated rs9652490, a SNP located within the LINGO1 gene, with the condition. The gene is known to be involved in neuron survival. Having one G at the SNP increased a person's odds of having essential tremor about 1.6 times. A G at both copies increased a person's odds about 2.4 times. This variant seems to account for about 20% of the risk for essential tremor.
Essential tremor is a movement disorder that causes rhythmic, involuntary shaking, usually in the upper limbs and sometimes the head. It can also affect the voice. The cause is unknown, but genetics clearly plays a significant role because more than half of all people with the condition have a family history of it. Though essential tremor appears similar in some respects to Parkinson's disease, the two are distinct diseases. Essential tremor is the most common movement disorder, occurring in 14% of people over 65.
https://www.23andme.com/you/journal/pre_essential_tremor/overview/
My Genotype:
GG (Moderately increased odds of essential tremor)
I have a history of essential tremor since childhood. I felt like a freak in my teenage years because people would notice me shaking. I'd get worse when I was in a negative emotional state.
Essential tremor effects my fine motor skills.
rs6265, also known as Val66Met, is a SNP in brain-derived neurotrophic factor BDNF gene. The more common G allele encodes the Val, while the A allele encodes Met.
[PMID 20042999] Met/A allele associated with introversion
The A allele may also be protective against depression when subjected to repeated defeat [PMID 17956738] g2b2mh blog
On a driving-based motor learning task subjects with this genotype showed greater error during short-term learning and poorer retention over 4 days, relative to subjects without the polymorphism. The presence of this BDNF polymorphism is associated with differences in brain motor system function, altered short-term plasticity, and greater error in short-term motor learning. [PMID 19745020]
http://www.snpedia.com/index.php/Rs6265
My Genotype:
AG (impaired motor skills learning)
Dyspraxia is also known as Developmental Coordination Disorder. It involves difficulty with planning, motor skills,and coordination.
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