Hi all—
I’m not a clinician or researcher but do come from a health care background, and have a long autoimmune history and have had to do a lot of digging on my own. I’ve been trying to understand whether what I’m seeing in my raw DNA data (analyzed via Promethease and SNPedia) is meaningful—or just noise and my understanding is this is the place and the people to ask.
Over the past decade, I’ve experienced a persistent collection of autoimmune-adjacent symptoms:
Fatigue, joint/muscle pain
Hematuria (on and off for years)
Cold extremities, photoflushing
Subclinical hypothyroidism and elevated TSH
Dry mouth and GI flares
Positive SS-B (La) antibody
ANA negative (repeat tests pending)
Lab work shows subtle but chronic signs of immune dysfunction. Despite this, I’ve remained “undiifferentiated” in the eyes of most doctors.
---
What I found in my SNP data:
I’ve identified a cluster of variants that individually are associated with interferon signaling and B/T cell immune regulation:
IRF5: rs2004640 (T), rs10954213 (A), rs2280714 (T) — all risk alleles
STAT4: rs7574865 (T/T — homozygous risk)
TYK2: rs34536443 (C:G — heterozygous for P1104A)
Other relevant SNPs:
PTPN22: rs2476601 (G:A — heterozygous risk)
TNFAIP3: rs5029939
BANK1: rs10516487
Possible HLA-DRB1 tagging SNPs
These all show up repeatedly in studies of lupus, Sjögren’s, RA, and polyautoimmune/interferonopathies—but I haven’t found resources that explain whether the combination is meaningful, or just coincidental.
---
What I’m hoping for:
A reality check from someone familiar with immune-genetic modeling or variant interpretation
Is this the kind of SNP profile that would justify advocating harder with a rheumatologist or immunologist?
Is this combination biologically relevant enough to suggest interferon dysregulation or polyautoimmunity—even if labs are borderline?
I’m not looking for diagnosis—just hoping for guidance from someone who works with immune SNPs and can say:
> “Yes, this is something real you should pursue.”
Or
“No, these don’t carry that kind of cumulative weight.”
Happy to provide anonymized data if helpful.
Thank you so much for your time—and for seeing people like me.
Chromowitch
I’m not a clinician or researcher but do come from a health care background, and have a long autoimmune history and have had to do a lot of digging on my own. I’ve been trying to understand whether what I’m seeing in my raw DNA data (analyzed via Promethease and SNPedia) is meaningful—or just noise and my understanding is this is the place and the people to ask.
Over the past decade, I’ve experienced a persistent collection of autoimmune-adjacent symptoms:
Fatigue, joint/muscle pain
Hematuria (on and off for years)
Cold extremities, photoflushing
Subclinical hypothyroidism and elevated TSH
Dry mouth and GI flares
Positive SS-B (La) antibody
ANA negative (repeat tests pending)
Lab work shows subtle but chronic signs of immune dysfunction. Despite this, I’ve remained “undiifferentiated” in the eyes of most doctors.
---
What I found in my SNP data:
I’ve identified a cluster of variants that individually are associated with interferon signaling and B/T cell immune regulation:
IRF5: rs2004640 (T), rs10954213 (A), rs2280714 (T) — all risk alleles
STAT4: rs7574865 (T/T — homozygous risk)
TYK2: rs34536443 (C:G — heterozygous for P1104A)
Other relevant SNPs:
PTPN22: rs2476601 (G:A — heterozygous risk)
TNFAIP3: rs5029939
BANK1: rs10516487
Possible HLA-DRB1 tagging SNPs
These all show up repeatedly in studies of lupus, Sjögren’s, RA, and polyautoimmune/interferonopathies—but I haven’t found resources that explain whether the combination is meaningful, or just coincidental.
---
What I’m hoping for:
A reality check from someone familiar with immune-genetic modeling or variant interpretation
Is this the kind of SNP profile that would justify advocating harder with a rheumatologist or immunologist?
Is this combination biologically relevant enough to suggest interferon dysregulation or polyautoimmunity—even if labs are borderline?
I’m not looking for diagnosis—just hoping for guidance from someone who works with immune SNPs and can say:
> “Yes, this is something real you should pursue.”
Or
“No, these don’t carry that kind of cumulative weight.”
Happy to provide anonymized data if helpful.
Thank you so much for your time—and for seeing people like me.
Chromowitch
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