Discovering the Impact of BCHE Gene Variants on My Health
A few years ago, I discovered a gene variant that significantly impacts my life: the BCHE variants. Learning about this variant has been life-changing, providing the relief I had been seeking.
Understanding BCHE Variants
BCHE variants can reduce the activity of butyrylcholinesterase enzymes, which play a crucial role in detoxifying pesticides, herbicides, and the alkaloids in nightshades, among other substances. BCHE is also involved in regulating the hunger hormone ghrelin and in fat accumulation, as well as metabolizing certain drugs. Low BCHE activity has been linked to higher risks of death from some cancers, COVID-19, and sepsis. A recent study found that babies who died from SIDS all had low butyrylcholinesterase enzyme levels. You can read more about it here.
Finding My BCHE Variants
I identified my BCHE variants in my raw DNA data from Ancestry and uploaded it to Promethease. Unfortunately, in 2019, this gene variant disappeared from my Promethease report.
In November 2018, the FDA banned pharmacogenetic genes from being displayed on consumer DNA reports, forcing Promethease to remove them. Ancestry also removed the gene from their raw DNA data. The information was completely hidden. Why?
The FDA’s Stance
The FDA is concerned that people might stop taking their medications based on genetic information. Instead of simply warning people to consult their doctors, they opted to hide this crucial information. The FDA also argues that genetic discoveries lack sufficient study backing. However, geneticists are often ahead of the curve, with studies taking years to complete—years many of us can’t afford to wait.
Uncovering Hidden Information
Despite these challenges, I found a way to uncover this information. 23andMe has special permission from the FDA to include pharmacogenetic genes in their raw data. I purchased another DNA test to confirm this, and my BCHE variants were present in the 2022 raw data.
How to Find Your BCHE Variants
To find your BCHE variants, you don’t need the full health report and subscription from 23andMe. The less expensive Ancestry report suffices, as you only need the raw data: I am an Amazon Affiliate, and I may earn from qualifying purchases. This doesn’t increase the price, and it helps me pay for my hosting fees.
Here’s are some other options from 23andMe if you want to view their health reports, but these do cost more money:
- 23andMe Health + Ancestry Service: Personal Genetic DNA Test Including Health Predispositions, Carrier Status, Wellness, and Trait Reports
- 23andMe+ Premium Membership Bundle – DNA Kit with Personal Genetic insights Including Health + Ancestry Service Plus 1-Year Access to Exclusive Reports
Checking for Cholinesterase Inhibitor Sensitivity Genes
You can view the 12 cholinesterase inhibitor sensitivity genes on SNPedia. Inhibitors include pesticides, herbicides, certain foods (like nightshades), caffeine, some prescription drugs, street drugs, and nerve gas. If you have a CI sensitivity gene variant, even low levels of these substances may make you sick.
Do you want to find out if you have any of these gene variants?
There are a lot of companies offering DNA tests these days. Before ordering a test from the company you choose, check with them, and make sure they include BCHE. I’ve done several tests and this is where I found the BCHE variants in my consumer DNA reports:
You’ll need your raw DNA data from one of these site:
- 23andMe
- Ancestry – but raw data must be from 2018 or earlier.
- Genes for Good – but raw data must be from 2018 or earlier. My report had less variants than the others.
These companies put your raw DNA data into a text file when you download them. Visit their sites and find those instructions.
Instructions for 23andMe:
If you have 23andMe, from their web-site, go to the upper right corner where your name is. Click on your name, then click “Search Raw Data”. From there you can download your raw data or browse the data.
If you browse the date, search for BCHE and it will list ALL of the BCHE genes. Or you can search each SNP individually to find the 4 cholinesterase inhibitor sensitivity genes. Searching the 4 SNPs is easier.
Here are the SNPs to search for:
- rs1799807
- CT (A-Typical BuChE)
- CC (A-Typical BuChE)
- TT (Normal, Typical)
- rs1803274
- CT (K Variant)
- TT (K Variant)
- CC (Normal)
- rs28933389
- AA (BCHE FLOURIDE 1)
- AG (BCHE FLOURIDE 1)
- GG (Normal)
- rs28933390
- AA (BCHE FLOURIDE 2)
- AC (BCHE FLOURIDE 2)
- CC (Normal)
Click each SNP listed above to read more about it on SNPedia. If you compare your raw data, the genotypes are flipped. If your raw data says rs1799807 TC in 23andMe, it’s Rs1799807 AG in SNPedia.
Flipping Genotypes from 23andMe to SNPedia:
- A->T
- T->A
- C->G
- G->C
Ancestry or Genes for Good Instructions:
If you have Ancestry data, prior to 2019 or Genes for Good, follow these steps to find the variants:
- Locate the raw data on their web-site and download.
- Open the text file and open Excel. I find it’s easier to search for the gene variants in Excel.
- Copy the text file and paste into Excel.
- Delete the header data.
- Then you need to search the Excel file for the SNPs listed above.
- If you have a match, you click on the SNP and read the genotypes and compare above.
Additional Resources
Genetic Genie GenVue: If you’ve downloaded your raw DNA data, you can upload it to Genetic Genie, GenVue Discovery. If you have A-Typical BuChE, it will be displayed under “Other Risks” and look for BCHE. This is the only Cholinesterase Inhibitor sensitivity gene in Genetic Genie.
Livewello: For a small fee, you can also upload your raw DNA data to Livewello. From there you can do a search for each of the SNPs listed above. Remember the genotypes are flipped in Livewello, if you view these SNPs in SNPedia.
- A->T
- T->A
- C->G
- G->C
Example of screenshot in Livewello, after searching for SNP rs1799807 – This SNP shows CT, which is one variant on BCHE rs1799807. This causes A-Typical BuChE, which can cause the sensitivity to nightshade alkaloids, pesticides, and herbicides. CC also causes A-Typical BuChE and TT is normal.
What If My Genes Are Normal?
Even if your genes are normal, you can still have reduced cholinesterase enzyme levels due to factors like pregnancy, birth control, liver or kidney stress, malnutrition, and exposure to nightshades or pesticides. You can get your cholinesterase enzyme levels tested through a simple blood test, which you can order yourself via Ulta Labs
I have two of the BCHE variants listed above and have experienced low cholinesterase enzyme levels. Through dietary changes, I’ve been able to increase my BCHE enzymes.
NEXT: What Are Nightshades and Why Are They Toxic? – The Healing Blossom
What is a Butyrylcholinesterase (BCHE) Deficiency? – The Healing Blossom
RESOURCES:
The genotype is flipped in the raw data. This explains it: SNPedia Orientation
MORE INFORMATION:
Cholinesterase Inhibitors by Anne Wright
Nightshade Sensitivity & Anesthesia Risk
