Effects of Warfarin/tPa [important]

[Espaa_]

@Espaa_

Chatgpt confirmed I'm VKORC1*2 Homozygote however the SNP rs61742245 is unfindable in my raw data.

View attachment 360131

@giire12 Looks like 23andme doesnt genotype this mutation at all. Its incomplete. Doesnt shock me though because it is quite rare to get A/A so they dont really have a basis to test for it. Its quite sad as Somalis have this allele at a rate of 17% which is very high. i did ask chatgpt and this is what it gave me:

As for your result, it fits with the study. You are now the second person with VKORC1*2. You have a higher risk of dementia than @giire12 [not a lot just based on this gene, blood pressure is literally more of a factor than this]. Thank you so much for posting these results brother, i appreciate it!

 

[Espaa_]

One thing it did is that chatgpt was able to find i have recent admixture that Gedmatch and illustrative would mistaken me as ethiopians and eritreans

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This next infromation it gave me was suprising but i suspect its likely not true.

Somali Group	rs9923231	rs9934438	rs7294	rs17708472	Profile Summary
Interior Nomads (e.g., Darod, Hawiye inland)	C/C (wild-type)	G/G	G/G	G/G	Fully East African VKORC1*1, normal warfarin dose
Northern Coastal (Zeila, Berbera)	C/T (mixed)	A/G	A/G or G/G	A/G	Minor VKORC1*2 presence, moderate sensitivity
Southern Coastal (Benadiri, Reer Hamar)	C/T or even T/T (rare)	A/G or A/A	A/G	A/G or A/A	Higher Eurasian influence, higher sensitivity
Barawani / Bajuni (Swahili-linked)	C/T or T/T	A/G or A/A	A/A	A/G or A/A	Strong Eurasian + Bantu Swahili mixture, more sensitive
Ogaden (Deep Pastoralist)	C/C	G/G	G/G	G/G	Almost pure VKORC1*1, resistant to warfarin sensitivity

@TheLand This is very interesting [take it with a grain of salt]. It doesnt make sense how bajunis which are bantu admixed carry more non african alleles than ethnic somalis which do. Only difference id be able to see is a tiny tiny % between northerners and southerners and people in galbeed but not enough to make a tangible difference

thanks for posting this . I will write an email to whoever wrote this abstract because it has inconsistencies

this emphasises a need for more testing within our populations

 

[Espaa_]

Try to avoid any space at the end, it happened to me first time

Wait does it contain rs61742245?

 

[giire12]

Wait does it contain rs61742245?

No i could not find that one but i was able to find rs9934438, rs7294, and rs17708472 which helps to predict the sensitivity level

 

[Espaa_]

I'll need to read up on this, it seems I don't have Asp36Tyr(rs61742245) nor does my granny, she has the AG genotype.

rs9934438 AA → you are likely more sensitive to warfarin → need lower doses.
rs2359612 AA → the effect is less clear, but not dramatically different from normal for most people.

AG interesting. I would like to ask how you tested it. We have found some stuff in raw data from 23andme but it doesnt seem to contain this segment.

 

[The alchemist]

Somalis have a unique pharmacological profile. We're an understudied population, too.

I posted that specific study around when it came out (I think another guy did the same time), and focused more on the diabetes susceptibility.

Genetic/Ancestry Research On Somalis

It's a mix of medical and ancestry related stuff published in Nature. The article stated that we had some genes associated with Diabetes type 1 at a very high frequency. They referenced another study from Finland that claimed Horn Africans had higher susceptibility than the Europeans, with the...

www.somalispot.com

Somalis really don't have Natufian-derived ancestry, and the autoimmune architecture in populations can shift through internal selection, drift, and whatnot. It is not 1:1. We're neither Natufian nor Nilotic, and we've had a stable Cushitic ancestry signature for ~8000 years. That is ample time to develop unique adaptation directions that make us respond differently to specific environmental pressures.

For example, we have only 23-24% of lactase persistence genetics that are mapped, but over 75% can consume milk. There are a lot of things we don't understand. Dinkas have high consumption yet have 0%. Take the Nubians. They have much lower milk consumption -- similar to Europeans-- their lactase persistence frequency matches the milk consumption, where experience of malabsorption arises for those that lack these LP alleles.

For intermediate populations, you can see phenotype expressions that can fluctuate widely between two hypothetical poles, with several unique pathways also adding to the dimensions. Certain traits of Somalis in the genetic diversity could be entirely African or Eurasian. There has to be genomic research. Ashkenazi Jews have a unique response to things as well, and they are punching above their demographic weight in their public health concerns, being relatively overrepresented.

 

[Espaa_]

Somalis have a unique pharmacological profile. We're an understudied population, too.

I posted that specific study around when it came out (I think another guy did the same time), and focused more on the diabetes susceptibility.

Genetic/Ancestry Research On Somalis

It's a mix of medical and ancestry related stuff published in Nature. The article stated that we had some genes associated with Diabetes type 1 at a very high frequency. They referenced another study from Finland that claimed Horn Africans had higher susceptibility than the Europeans, with the...

www.somalispot.com

Somalis really don't have Natufian-derived ancestry, and the autoimmune architecture in populations can shift through internal selection, drift, and whatnot. It is not 1:1. We're neither Natufian nor Nilotic, and we've had a stable Cushitic ancestry signature for ~8000 years. That is ample time to develop unique adaptation directions that make us respond differently to specific environmental pressures.

For example, we have only 23-24% of lactase persistence genetics that are mapped, but over 75% can consume milk. There are a lot of things we don't understand. Dinkas have high consumption yet have 0%. Take the Nubians. They have much lower milk consumption -- similar to Europeans-- their lactase persistence frequency matches the milk consumption, where experience of malabsorption arises for those that lack these LP alleles.

For intermediate populations, you can see phenotype expressions that can fluctuate widely between two hypothetical poles, with several unique pathways also adding to the dimensions. Certain traits of Somalis in the genetic diversity could be entirely African or Eurasian. There has to be genomic research. Ashkenazi Jews have a unique response to things as well, and they are punching above their demographic weight in their public health concerns, being relatively overrepresented.

If its okay, please link your post on diabetes susceptibility. [oh wait you did I didnt look closely enough] I personally do not want to make a post on it since I lowkey find it boring and I would be more than happy to add to your research![your research needs to come alive again, it needs a proper discussion] You are right in that somalis dont really descend from those populations and that we have our own unique genetic genome as in my research I struggled to explain the high frequency of VKORC1*4 as it neither comes from Natufian related ancestry nor Nilotic related ancestry.

genes are not the only thing ofc. This is the classic nature vs nurture argument/which came first the chicken or the egg argument. There are many many many many things that scientists havent even discovered yet as we are so complex subhanallah. Some things dont even make sense even in the human body like why do we have an appendix

Ashkenazi Jews are lowkey inbred with diseases that are unique to them. The BRCA genes is just one of many. Because of this, many geneticists studied their dna as its something unheard of in human populations. But yes you are right, they are wayyyy too overrepresented

 

[The alchemist]

If its okay, please link your post on diabetes susceptibility. [oh wait you did I didnt look closely enough] I personally do not want to make a post on it since I lowkey find it boring and I would be more than happy to add to your research![your research needs to come alive again, it needs a proper discussion] You are right in that somalis dont really descend from those populations and that we have our own unique genetic genome as in my research I struggled to explain the high frequency of VKORC1*4 as it neither comes from Natufian related ancestry nor Nilotic related ancestry.

genes are not the only thing ofc. This is the classic nature vs nurture argument/which came first the chicken or the egg argument. There are many many many many things that scientists havent even discovered yet as we are so complex subhanallah. Some things dont even make sense even in the human body like why do we have an appendix

Ashkenazi Jews are lowkey inbred with diseases that are unique to them. The BRCA genes is just one of many. Because of this, many geneticists studied their dna as its something unheard of in human populations. But yes you are right, they are wayyyy too overrepresented

I'm not an expert in this, and my understanding of diabetes is very limited. I think your post is important, and I'd look forward to your weekly posts.

Nurture and nature is the wrong perspective. There is no nurture without nature, and DNA only has function in the environment. We cannot test it without the constraints of the environment. There would be no use in doing it either. Then again, in many ways, in complex genetic systems that do not deal with narrow disease-gene pathways, let's say intelligence, it's impossible to completely control for DNA in a non-linear environment. Most studies on human intelligence that are not hyper-focused are fraudulent.

DNA only has function through the environment, and that is how we understand it in the first place. The environment gives DNA its dimensions and definitions, its range, and in a suite of genes, their polygenic conditions; those dimensions that equal behavior become wider and move according to the environment for adaptation, i.e., the parameters move within a broader system making the brain specialize in new requirements and acclimations, i.e., i.e, the flynn effect. But this is somewhat of a digression, so I'm going to end it here.

 

[giire12]

@Espaa_ , I found something which may interest you, also could you simplify what this result mean.

 

[Espaa_]

@Espaa_ , I found something which may interest you, also could you simplify what this result mean.

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this is interesting. i need to do extensive research on this allele. Its found on chromosome 6 and because its a HLA, it means its apart of the immune system essentially.

nature article says that

“HLA-B*15:02 is strongly associated with life-threatening skin reactions (like
Stevens-Johnson Syndrome and Toxic
Epidermal Necrolysis) in response to carbamazepine, phenytoin, and sometimes oxcarbazepine.”

These medications are used for emergent seizure control, bipolar disorder and to control neuropathic pain. This is a bit serious because if you ever have a seizure this might be an emergency medication they might give (inshallah you never have a seizure or fall ill in your entire life)

I need to research this more because this seems mad. You need to let your GP know you carry this asap so they can record it in your medical file. Its a permanent drug intolerance. You mightve just saved your own life some time in the future because you took a 23andme. that is crazy

another major thing is to tell all your immediate relatives as there is a high likelihood they might carry this as well

EDIT: this seems like im fearmongering but its just precautions. Its better safe than sorry @giire12

 

[giire12]

this is interesting. i need to do extensive research on this allele. Its found on chromosome 6 and because its a HLA, it means its apart of the immune system essentially.

nature article says that

“HLA-B*15:02 is strongly associated with life-threatening skin reactions (like
Stevens-Johnson Syndrome and Toxic
Epidermal Necrolysis) in response to carbamazepine, phenytoin, and sometimes oxcarbazepine.”

These medications are used for emergent seizure control, bipolar disorder and to control neuropathic pain. This is a bit serious because if you ever have a seizure this might be an emergency medication they might give (inshallah you never have a seizure or fall ill in your entire life)

I need to research this more because this seems mad. You need to let your GP know you carry this asap so they can record it in your medical file. Its a permanent drug intolerance. You mightve just saved your own life some time in the future because you took a 23andme. that is crazy

another major thing is to tell all your immediate relatives as there is a high likelihood they might carry this as well

Thank you very much, I thought at first this is very serious, even the chatgpt told me to inform my GP. Thanks for your input, i will share it with my family and i will make sure i take further test to be certian.

 

[Espaa_]

Thank you very much, I thought at first this is very serious, even the chatgpt told me to inform my GP. Thanks for your input, i will share it with my family and i will make sure i take further test to be certian.

Your most welcome. Another reason why gene testing in somalis is very very important. Thank you for sharing this with me.

Im going to probably talk about this case next week if this is okay with you. Im going to research and look into this

 

[giire12]

Your most welcome. Another reason why drug testing in somalis is very very important. Thank you for sharing this with me.

Im going to probably talk about this case next week if this is okay with you. Im going to research and look into this

Thats fine with me, also its important cause it could save lives.

 

[Espaa_]

Thats fine with me, also its important cause it could save lives.

I looked more into it. Turns out its found exclusively in Han Chinese and Thai populations. We as an ethnic group arent tested so its surprising to see you may carry this allele. You need more genetic testing done via your GP and not any of these websites. You most likely carry 1 copy which is not as bad but 2 copies is dangerous. Chatgpt alone cant do much but give indications. Idk if you live in the UK but this is what the government has to say about it:

Phenytoin: risk of Stevens-Johnson syndrome associated with HLA-B*1502 allele in patients of Thai or Han Chinese ethnic origin

If patients are known to be HLA-B*1502-positive, phenytoinshould be avoided when alternative therapy can be given.

www.gov.uk

it also suggests because its so rare outside of asian populations, you might have an extremely distant south east asian ancestor OR it could be a spontaneous mutation that mightve occured but thats even more rare.

in somali genome research like the Pagani et al 2012 study, there is no mention of this HLA. Realistically the only way you could carry this is via a very ancient south east asian ancestor or east asian* @giire12

 

[giire12]

I looked more into it. Turns out its found exclusively in Han Chinese and Thai populations. We as an ethnic group arent tested so its surprising to see you may carry this allele. You need more genetic testing done via your GP and not any of these websites. You most likely carry 1 copy which is not as bad but 2 copies is dangerous. Chatgpt alone cant do much but give indications. Idk if you live in the UK but this is what the government has to say about it:

Phenytoin: risk of Stevens-Johnson syndrome associated with HLA-B*1502 allele in patients of Thai or Han Chinese ethnic origin

If patients are known to be HLA-B*1502-positive, phenytoinshould be avoided when alternative therapy can be given.

www.gov.uk

I live in the UK, the reason i need to confirm it is cause it also said that its usually found in East Asia, so i am a bit unsure that i have but like you said we are untested and maybe a percentage of us do have this allele.

 

[Espaa_]

I live in the UK, the reason i need to confirm it is cause it also said that its usually found in East Asia, so i am a bit unsure that i have but like you said we are untested and maybe a percentage of us do have this allele.

Wait i updated my answer look up sorry. @Hali101 you mentioned you had some south asian in you, you might benefit from this

 

[giire12]

Wait i updated my answer look up sorry. @Hali101 you mentioned you had some south asian in you, you might benefit from this

To be honest 23andMe picked small amount of east asian.

 

[Espaa_]

To be honest 23andMe picked small amount of east asian.

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Its most likely real and not a trace ancestry. They left a mark on your chromosome 6

23 and me has a thing where you can check chromosome and ancestry like this:

Spoiler

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what chromosomes are the asian bits in? Anything in chromosome 6 is the culprit

 

[Fez]

Checked my raw files @giire12 I'm also a carrier for the risk allele CT but I didn't score any Asian.

 

[Espaa_]

Checked my raw files @giire12 I'm also a carrier for the risk allele CT but I didn't score any Asian.

I think we stumbled into something BIG here . Not only do somalis have a warfarin resistent allele but somehow 2 people who do not know each other in real life nor are they related to each other spontaneously gets a copy of an extremely rare HLA allele found exclusively in Southeast/East Asian populations