| Note: The following is complete speculation and probably bullshit. Please correct me! I can't find the actual paper for this one. But reading an older study [0], also about TMEM106B, it seems they had already established an association between three SNPs and frontotemporal lobar degeneration (FTLD) risk. However, the surprise discovery back then seemed to be the large discrepancy between the controls and the subgroup FTLD-GNR (those with FTLD and GNR mutations) for TT rs6966915 and CC rs1990622. See table 2 in [0], and look at the odds ratios. They are remarkably low for TT/CC, which invites further study that may lead to understand how to protect against FTLD (by understanding possible protective mechanisms, even therapies and so on). As for listing out those odds ratios for your 23andMe genome, you can do it with arv [1]. For table 1 in the study (unless you know you have GNR mutations): import arv
genome = arv.load("genome.txt")
rsid = "rs6966915"
gt = genome.get_snp(rsid).genotype # plus orientation
print("%s %s" % (rsid, arv.unphased_match(gt, {
"CC": "CC - OR 0.94",
"CT": "CT - OR 1.04",
"TT": "TT - OR 0.74"})))
rsid = "rs1990622"
gt = ~genome.get_snp(rsid).genotype # minus orientation
print("%s %s" % (rsid, arv.unphased_match(gt, {
"TT": "TT - OR 0.93",
"CT": "CT - OR 1.04",
"CC": "CC - OR 0.74"})))
Again, did I say that I'm a complete noob? Be very careful drawing conclusions from the program (or believing I know what I'm talking about --- I don't!)[0]: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3034409/ [1]: https://github.com/cslarsen/arv |
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