COMT V158M ±
COMT H62H ±
MTR A2756G ±
MTRR A66G ±
BHMT-02 ±
BHMT-08 ±
CBS C699T ±
CBS A360A ±
VDR Taq ++
MAO-A R297R ++
CYP1A2 164A>C ±
CYP1B1 N453S ±
CYP1B1 R48G ±
GSTP1 I105V ±
SOD2 A16V ±
NAT2 I114T ±
CYP1B1 L432V ++
CYP2D6 S486T ++
NAT2 K268R ++
Your profile is similar to mine. What are your symptoms?
Hi guys,
I was wondering if the SRD5A1, SRD5A2, SRD5A3 genes are listed on your 23andme reports. These are genes for 5ar enzyme. It would be very interesting to compare these if they’re listed.
Thanks,
-G
Hi Gham.
I uploaded my 23andme results into Promethease which identifies gene alleles and their assumed effect. Doesn’t mention mutations.
Search for SRD5A1, SRD5A2 and SRD5A gave me these results. Have to interpret them yourself as it doesn’t mean much to me:
First result is SNP, second allele type, third is frequency in population.
rs166050(A;A) 61.9%
rs2300701(A;A) 15.2%
rs2208532(G;G) 16.1%
rs523349(C;G) 32.3% (linked to increased ovarian cancer in females)
rs632148(C;G) 36.2%
rs743572(A;A) 39.8%
rs2268797(C;T) 46.2%
rs12470143(C;T) 51.3%
rs722208(A;A) 57.7%
rs3731586(A;A) 89.2%
rs9282858(G;G) ?
rs9332964(G;G) ?
rs11133373(C;G) 32.3%
rs9282858(G;G) ?
rs9332964(G;G) ?
is taht your results? what is that mean? not detected?
No it means my allele type of that gene copy is G;G, and it’s frequency in the general population is unknown.
Most genetic analysis is theoretical, and it’s simply matching specific allele types and correlation with particular illnesses.
There aren’t many published studies on allele type of SRD5AX genes. There was one link to a study on micropenises, but only as a indication that my allele type wasn’t the one found associated with it.
Thanks dannyfc. I wonder if there’s an example of a non-PFS person’s 5ar genes somewhere that we could compare yours to. That would be interesting.
Methylation
Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):
COMT V158M
COMT H62H
VDR Bsm
MAO-A R297R
CBS A360A
Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):
MTRR A66G
MTRR A664A
BHMT-02
AHCY-01
AHCY-19
Detox
CYP1A12C A4889G rs1048943 TT -/-
CYP1A1 m3 T3205C rs4986883 TT -/-
CYP1A1 C2453A rs1799814 GT +/-
CYP1A2 164A>C rs762551 AA -/-
CYP1B1 L432V rs1056836 CG +/-
CYP1B1 N453S rs1800440 TT -/-
CYP1B1 R48G rs10012 CG +/-
CYP2A62 1799T>A rs1801272 AA -/-
CYP2A620 rs28399444 II -/-
CYP2C92 C430T rs1799853 CT +/-
CYP2C93 A1075C rs1057910 AA -/-
CYP2C1917 rs12248560 CC -/-
CYP2D6 S486T rs1135840 CC -/-
CYP2D6 100C>T rs1065852 GG -/-
CYP2D6 2850C>T rs16947 GG -/-
CYP2E11B 9896C>G rs2070676 CC -/-
CYP2E11B 10023G>A rs55897648 GG -/-
CYP2E14 4768G>A rs6413419 GG -/-
CYP3A41B rs2740574 TT -/-
CYP3A42 S222P rs55785340 AA -/-
CYP3A43 M445T rs4986910 AA -/-
CYP3A4*16 T185S rs12721627 GG -/-
GSTP1 I105V rs1695 AA -/-
GSTP1 A114V rs1138272 CC -/-
SOD2 A16V rs4880 AG +/-
NAT1 R187Q rs4986782 GG -/-
NAT1 R64W rs1805158 CC -/-
NAT2 I114T rs1801280 CT +/-
NAT2 R197Q rs1799930 AG +/-
NAT2 G286E rs1799931 GG -/-
NAT2 R64Q rs1801279 GG -/-
NAT2 K268R rs1208 AG +/-
Gene Result
GSTT1 Present
Ordered my kit yesterday. How did this thread die? This is a HUGE deal if you ask me. It seems all of us (so far) have a MTHFR gene mutation, either a1298c or c677t or both. There is tons of information out there about the dreaded MTHFR gene mutation and its potential health implications. Am I missing something?
It is good to do but id does not answer many questions. Appartently the accutane guys often had the cystic fibrosis gene. This is associated with low glutatione. But then were do we go from there.
I have some “mutations” but felt great before I took fin.
Except that NYScientist came to a similar conclusion, it seems, regarding the MTHFR mutation, which results in a few things including (very commonly) elevated histones. NYScientist found enough evidence pointing to androgen sensitivity, among other things, and decided to take a high dose of a very popular histone inhibitor, reported being about 80% cured a couple of years ago, and took off and never returned.
Also, does anyone know why the above thread got locked? With all the reading I’ve been doing, I feel like this REALLY needs to be explored. This is the only thing I’ve seen in 5 years that makes some sense.
Does anyone with 23andme results want to “share and compare” on their website? Just got mine back.
Does anyone else have 23andMe data, which they have not shared yet (either on Solve or here)? I did some further analysis of all data previously published by PFS patients and have found all patients to have a mutation of MTRR A66G.
MTRR enzymes play a central role in the methyl group metabolic pathway, that are involved in both DNA methylation and DNA synthesis. Needless to say, these are key pathways. A recent meta study has found
that the MTRR A66G polymorphism is associated with significantly increased cancer risk
A MTRR polymorphism could contribute to our susceptibility to get PFS, while others can consume 5ARI’s without apparent problems.
This is an important information to communicate to our researchers (which I will do shortly). If you have 23andMe data which you have not previously shared, please do so and upload your results, specifically from GeneticGenie.
Thanks.
Would you recommend I get a 23andMe test done awor? I’d definitely be up for it if it would provide useful?
At this point, I am really not sure if the data is significant, and need to do further analysis. If a PFS patient had some 23andMe data lying around, I would love to increase the statistical power a little for what I am doing, but it is not worth it to get the tests done if you don’t already have them. Incidentally, I would also be very interested to get some more data from guys who don’t have PFS, or only a very mild form (again, already available data). If the scientists then want to see more, then we can take it from there.
Btw, If anyone out there has a strong background in statistics, I would love for you to give me a hand.
Hey awor,
I’m new to the site, but have been on the fence about joining for a while. I’m the admin at the PSSD Forum and run the PSSD website “PSSD Lab”. I recently saw a post about this site looking for PSSD people as well, and then today someone reposted a link to this site because I’ve actually been doing something very similar for a while on the PSSD forum.
I have a fairly strong stats background and just graduated w/ Biology and Neuroscience degrees this spring. I’d love to help this project in any way I can. I’ll go through the rest of this thread tonight. Most if not all of what I’ve been working on probably works for you all too.
What I’m trying to run is called a “Genome-Wide Association Study (GWAS)”. The numbers we have are just too low for any real analysis on the PSSD forum (Around 20). I’ve raised the money for the computer I’ll need, have spoken to researchers running these experiments, and am ready to do this if we get enough people.
We’ve written a program that runs GWAS. It works well, but it is in Python and therefore is slower than some of the programs written in C# (PLINK is the one that comes to mind).
I’ll link to the project thread and the program. I’ve locked the results for now because I’m trying to incentivize more people to send in genomes before I release.
I will say however that nearly EVERYONE (I think 90%+) has a mutation in one of their Vitamin D Receptor genes. VDR Taq and VDR Bsm are genes that PFS should look at.
http://www.pssdforum.com/viewtopic.php?f=44&t=1993
PS: There are some good places to look for control data. Open SNP project is nice. Reducing confounding variables will help if you get ppl who took fin but didn’t get PFS, but might be harder to get them to donate. Maybe posting at hairloss forums would be of use.
That’s really interesting. We do too. It’s the most frequent homozygous mutation I can see in the results, and one I personally have (VDR Taq). Thanks Ghost and welcome, glad to have you here. We’ll PM you.
Hey Ghost
First of all, a very warm welcome to you - great to see you on this site. You may recall, we had some email exchanges a while back. I was meaning to get into contact with you over the past week - fantastic that you beat me to it. Funny that you mention GWAS, I first wanted to mention it in what I am looking for, decided not to as to not scare off any potentials. And there you come along.
I have been slowly hacking away at my spreadsheet (sorry, no PLINK in use yet), looking up frequency distributions in dbsnp and so forth. Quite tired atm, but will get back to you within the next days via pm, as @axolotl wrote. I think we have some interesting and important things to discuss in the overall picture of our respective diseases.