Bisphosphonate risk factors | Updated articles | Member stories
Genetic Lifehacks Weekly Newsletter
Polygenic risk scores are a way of adding up the small risk variants to estimate an overall risk of an outcome, such as a chronic disease or a genetic trait.
I love it when research studies include polygenic risk (especially when all the SNPs are available in a raw data file), because complex conditions rarely involve just one gene. You may also see the term “polygenic risk” when reading about IVF options or even gene editing of embryos. Some companies are offering whole genome testing of embryos prior to implantation in IVF and allowing parents to select the embryo based on polygenic risk scores.
Keep in mind that while polygenic risk calculations can sometimes give us a better understanding of a complex trait or condition, inherited genetic variants are usually just one piece of a larger puzzle.
New this week:
I published an article on the polygenic risk of osteonecrosis from bisphosphonates --medications used for increasing bone density in osteoporosis and bone cancers. An uncommon but serious side effect of bisphosphonates is the risk of osteonecrosis (death of the bone tissue) in the jawbone.
Your stories:
Genetic Lifehacks is all about giving you the tools and information to optimize your own health. Last week, I mentioned that I would love to feature some of your insights, and I received some wonderful responses. I’ll feature these stories in upcoming newsletters over the next month or two. If you’d like to share your experience, just reply to this email with it. Sometimes it’s the little breakthroughs that make all the difference, and what works for you may help someone else in a similar situation.
MyHeritage Whole Genome:
MyHeritage, a genealogy site that offers DNA testing, announced this week that it will be using whole genome sequencing for its testing from this point on. The catch, if you can call it that, is that they’re using 2x coverage, which is less accurate than the 30x coverage most whole genome services provide. This means it won’t be reliable enough for detecting rare genetic disease mutations, but it is very inexpensive (~$40 right now).
I’ve ordered a test kit for myself to see what the process and the whole genome file formats are like. I’ll also compare the accuracy to my other raw data files. Their initial press release says that they will offer a .CRAM format for the file download, which won’t work on Genetic Lifehacks -- but it is something that can be converted to work.
Updated with new studies:
I’ve updated several articles this week:
BPA and BPS: How Your Genes Influence Bisphenol Detoxification -- updated with a fascinating new study on how higher levels of BPA affect heart function and ECG changes in people who don’t have cardiovascular disease.
Riboflavin (Vitamin B2) - updated with a couple of recent studies, including an interesting one on how supplemental riboflavin changes gene expression in people who are homozygous for MTHFR C677T.
Gratefully yours,
~ Debbie
Member Story: Eureka Moments
It turns out I’m a slow COMT producer, and when I read through the list of COMT inhibitors I particularly noticed quercetin on the list. Quercetin seems to be recommended for everything these days, and I’d been taking a moderate daily dose for a few months at that point. I decided to try stopping the supplement, and within a few days, I noticed a subtle but definite difference in my emotional state. It’s hard to put in words, but the closest I can come is that I’d become emotionally brittle without realizing it -- prone to sudden emotional swings that were hard for me to cope with, since I’m normally very stable. Once the quercetin cleared my system and I returned to normal, it was a huge relief -- like having a headache that you don’t even notice is there until it’s gone.
Latest on Longevity Lifehacks:
Gut microbiome, artificial sweeteners, and powering the immune system
My latest Longevity Lifehacks article looks at a new study on how sucralose (in Splenda and diet drinks) changes the gut microbiome in a way that decreases the ability of activated T cells to kill cancer. It’s a fascinating study with important implications for healthy immune aging.
What I’ve been reading:
1. Mitochondrial changes in psychosis
A new study on how in people with psychotic symptoms, mitochondrial changes can be seen even when looking at skin cells.
A stellate ganglion block reduces several of the symptoms of ME/CFS, including PEM and brain fog. A stellate ganglion block “can inhibit the entire cervical sympathetic chain and produces temporary physiological changes (e.g. increased regional blood flow) hypothesized to ‘reset’ the sympathetic/parasympathetic balance of the autonomic nervous system.”