rs16851799 Genotype 167089942 C or T
I am C / T
Thx, Terri
Hi, from 23 and me, this came up - does anyone know what it means?
SCN9A relates to the regulation of sodium. Primary Erythromelalgia Primary or idiopathic erythermalgia (OMIM 133020) is an autosomal dominant, inherited disorder. ). To date, nearly a dozen SCN9A mutations in multiple families have been identified as causing PE BUT these mutations have only been found in families from The Netherlands, the United States, Belgium, France, Canada, and China, with a clear autosomal dominant inheritance pattern, Only a few represent de novo founder mutations (a mutation that arose in the DNA of an individual several generations earlier and whom is considered to be a founder of a distinct population) In other words the mutation may be the result not the cause of the disease. They don’t test SCNA in a work up but rather look for SCN1A, SCN2A, SCN3A, and SCN9A, respectively located within a cluster on chromosome 2q24.3. Geontyping means nothing. And if it were simply a matter of sodium channel disorders we have medication for that which would effectivley cure the disease (it does not)
Put simply it means nothing, other than 23 and Me ripped off another person.Within the variants 23 and me study, there are roughly twenty-two billion five hundred million possibilities. With the ones they don’t study (which have as much effect as the ones they do study) there nine hundred two billion five hundred million possibilities. You wouldn’t spend 200 bucks on lottery tickets with those kind of odds
They are providing RAW data that has no meaning except for a slight increase in potential of 10 diseases (and only 10):
- Alpha-1 antitrypsin deficiency (a disorder that could cause lung disease and liver disease)
- Late-onset Alzheimer’s disease
- Celiac disease (a digestive disorder in which people can’t eat gluten)
- Early-onset primary dystonia (a movement disorder that involves issues such as muscle contractions and tremors)
- Factor XI deficiency (a blood-clotting disorder)
- Gaucher disease type 1 (an organ and tissue disorder)
- Glucose-6-phosphate dehydrogenase deficiency (a red blood cell condition)
- Hereditary hemochromatosis (an iron overload disorder)
- Hereditary thrombophilia (a blood clot disorder)
- Parkinson’s disease
With those ten ther data is association not causation so even then its meaningless. Genetics isn’t destiny. There are many things other than genetic variants that can contribute to the development of these diseases or conditions, including environmental or lifestyle factors. And these tests are looking only for specific variants — not all of which are associated with an increased risk of these diseases. They are REQUIRED by the FDA to tell you so but its hard to find. The mere instance of a variant does not mean an individual has a disease or is certain to develop it. Likewise, the absence of a variant doesn’t guarantee that someone won’t ever get that disease or condition.
The other fact is that almost without exception (and I did this stuff for years) is studies about genetic diseases have focused on specific populations or groups, meaning that available data is only relevent relevant to people of those groups/ethnicities.
For example, 23andMe tells customers beforehand that its report on the incidence of three variants for Gaucher disease type 1 is most relevant for people of Ashkenazi Jewish descent, while its report on Glucose-6-phosphate-dehydrogenase deficiency is more germane for people of African descent. We are not talking their genealogical information we are talking 1st and 2nd degree relatives.
What they simply have done is commercialized fewer than 100,000 genome pairs of over 1 million mapped in the World Genome project. The variants they have are no more significant than those that determine hair or eye color which if grew up in the olden days when large families were the norm. You would remember the kids often had different color hair and eyes… Those factors had few variants, and varied widley. As I said earlier within the variants 23 and me study, there are roughly twenty-two billion five hundred million possibilities and “associations”. With the ones they don’t study there nine hundred two billion five hundred million possibilities.
EVEN if there were some kind of direct genetic correlation between SCN9A and say Erythromelalgia which has multiple known causes, you are not on bit closer to an effective treatment. Worse there could be an emotional toll on your family worrying about something in the future, that needn’t. For example EVEN if there was ONE specific marker that was 100% predictive, there is only a one in sixteen chance your children would get the disease.
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Thanks so much, @ModSupport, for a great response. I suppose I am clutching at straws trying to understand.
Now I have sought AF and A Flutter, and wonder if it’s related to PE. Cheers, Terri
Could be! This sodium channel stuff has popped up in several communities today. FWIW If you are interested about the physiology of al this: The AF and SAF flutter is most often caused by the human ether-a-go-go-related gene (hERG) and the subunit of the voltage-gated potassium channels (found predominantly in the myocardium) for which it encodes. These channels are the predominant facilitators of the delayed-rectifier potassium ion currents, which cause repolarization. Abnormalities in these channels have been shown to lead to prolonged action potentials that are expressed as long QT intervals on the electrocardiogram. The health risks associated with a prolonged QT interval are not clear. Although individuals with a prolonged QT interval often usually asymptomatic, some may develop palpitations, syncope, seizures,etc. when sodium channel blockers are introduced.
Anesthetics are one of them (thus the required pre-op ekg) as are anti-seizure medicines often used for Erythro but the most potent of all are narcotics and especially methadone (its why all addicts and regular users of narcotic medications eventually die) Which is why I really discourage the use of pain meds.
I would have a good long sit down with a cardiologist (one doesn’t spend most of his day in the cath lab doing procedures but rather treats patient sin the office and keeps them out of the lab) The main reason is there are some meds he should consider if he hasn’t already for the AF.flutters. With the almost certain sodium channel issues you have, use of the common Erythro drugs could really increase your potential for stroke (AF one of the main causes) With cardiac intervention such as BETA blockers etc, you could not only lower that risk but potentially get some relief from the Eryhtro with sodium chanel blockers (anti siezure meds) I’m an old retired fart but if you ask him the worst that can happen is he looks at you like you have three eyes, the best is some relief…
@ModSupport - will do. I see Dr Gerard Connors, he’s both a Vascular Specialist and Cardiologist, on 30/11/17.
I was on 300mg Lyrica for PE and SFN, but have weaned that down to 25mg at night.
I take 1/2 Atenolol and 2x2.5mg Elquis, but AF and flutter still an issue. Maybe an oblation might help?
I have an hiatus hernia, but manage this with ginger tea, told Dr that I didn’t v want meds for this condition any longer.
I have found that a vegan diet helps reduce flares, can’t seem to give up the 25mg Lyrica-terrible swelling and burning at night.
Cheers, Terri
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Scan I ask where you had this testing done. Been looking for a place to have my daughter tested.
Thanks!!!
Elizabeth, did you miss one of the paragraphs in my previous answer? the one that starts with “Put simply…”?