Hmm, I am homozygous CC for SHMT1 rs9909104.
Oh golly.
"what would become our most promising SNP (SHMT1
rs9909104) with ovarian carcinoma risk"
http://scholar.google.com/scholar?q=rs9909104
And ovarian cancer is what I'm concerned about at the moment (with the result of my CA-125 test).
"Each copy of the minor allele in
SHMT1 intron 5 A>G (rs9909104) was associated with epithelial ovarian cancer [odds ratio (OR), 1.2; 95% confidence interval (95% CI), 1.0–1.4;
P trend = 0.02; FPRP = 0.16] "
http://cancerres.aacrjournals.org/content/68/7/2498.short
So if I have CC on that, do I have 2 A>Gs? Does my odds ratio get even higher?
===
"Three SNPs in
DNMT3A were associated with risk among multivitamin supplement users: 3′ untranslated region (UTR) C>G (rs13420827: OR, 0.8; 95% CI, 0.6–1.0;
P interaction = 0.006; FPRP = 0.54), intron 6 G>A (rs11887120: OR, 0.8; 95% CI, 0.7–1.0;
P interaction = 0.007; FPRP = 0.57), and intron 22 A>T (rs11695471: OR, 1.2; 95% CI, 1.0–1.5;
P interaction = 0.01; FPRP = 0.66). These data extend previous findings from other cancers of a role for
SHMT1 in ovarian cancer, and provide evidence that SNPs in methylation and DNA synthesis reactions are associated with risk of ovarian cancer. Interventions with modifiable factors such as multivitamin intake may reduce risk. "
same source as above
I have no report in 23andMe for the first rs number of these 3.
for the 2nd, rs11887120, I have TT -- what does this mean?
Does "G>A" mean if a C is changed to a T then the odds ratio of 80% applies (like a 20% less chance of getting ovarian cancer when you take a multivitamin?)
If both Cs are changed to Ts, does the odds ratio get better somehow, or stay the same?
TT is not too common, in the teens, I think I saw.
for the 3rd, rs11695471, I have TT --
Does an odds ratio of 1.2 mean that taking a multivitamin makes it more likely to get ovarian cancer? And are the odds even worse when it's two Ts instead of one?
TT in that one is pretty common, at least half, in the few populations looked at on dbSNP.
==
The rare allele of a tSNP in
NMI (rs11683487) showed evidence of association
with reduced risk of ovarian cancer (heterozygous odds ratio [OR] with 95%
confidence intervals [CI] 0.80 [95% CI 0.69-0.93] homozygous OR 0.87 [0.71-1.02],
P = 0.038)"
http://discovery.ucl.ac.uk/1310441/1/1310441.pdf
For rs11683487 I have TT.
It's in 18% of Europeans - is TT what she is calling "rare allele of a tSNP", and what's a "tSNP"?
Well, her doctoral thesis
Identifying Common Genetic Variants Associated With Disease Risk And Clinical Outcome In Epithelial Ovarian Cancer
is only 530 pages long, so i'll just skim it.
for a week or so
.