Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity

[helvella]

Just published paper identifies a specific genetic variation that they claim is associated with multiple autoimmune syndromes.

I checked my 23andme raw data and found the SNP was analysed - rs3757247. (23andme have changed exactly what they analyse over the years.)

Of course, just knowing you have (or have not) got this SNP is really of interest rather than of help in your medical care.

Endocrine . 2021 May 8.

doi: 10.1007/s12020-021-02743-9. Online ahead of print.

Polymorphism in BACH2 gene is a marker of polyglandular autoimmunity

Marta Fichna 1 , Magdalena Żurawek 2 , Bartosz Słomiński 3 , Marta Sumińska 4 , Agata Czarnywojtek 5 , Natalia Rozwadowska 2 , Piotr Fichna 4 , Małgorzata Myśliwiec 6 , Marek Ruchała 7

• PMID: 33966174

• DOI: 10.1007/s12020-021-02743-9

Abstract

Purpose: Genetically predisposed individuals may develop several autoimmune diseases-autoimmune polyendocrine syndromes (APS). APS types 2-4, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the BACH2 gene in immune cell differentiation and shifting the T-cell balance towards regulatory T-cells. BACH2 polymorphisms are associated with autoimmune disorders, including Addison's disease (AD), Graves' disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the BACH2 variant, rs3757247, in endocrine autoimmunity in the Polish population.

Methods: The analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry.

Results: APS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto's thyroiditis-in 238, T1D-in 127, GD-in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease-in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30-1.95, p < 0.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, p < 0.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls (p-values > 0.05).

Conclusions: These results provide evidence of the association between BACH2 polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.

Keywords: Autoimmune polyglandular syndrome; Autoimmunity; BACH2; Multiple organ autoimmunity; Polymorphism.

pubmed.ncbi.nlm.nih.gov/339...

[Aunds]

Thank you that much a really interesting.

[TSH110]

Hells bells I’m TT for it 😱

[helvella Administrator in reply to TSH110]

So am I - but isn’t that negative?

[helvella Administrator in reply to TSH110]

My mistake!

The frequency of the minor T allele was significantly higher in subjects with AAD from the United Kingdom compared to both the local and WTCCC2 control cohorts

ncbi.nlm.nih.gov/pmc/articl...

[TSH110 in reply to helvella]

My understanding is it one T is bad and two are even worse! I saw the reply and thought great I am wrong only to have my hopes dashed with the clarification. Twins again then with TT 😊

[helvella Administrator in reply to TSH110]

We always have to remember that just having a genetic variant that is associated with a condition doesn't mean we definitely will suffer from it. There might well be other genetic requirements, and elements of nurture.

[TSH110 in reply to helvella]

Yes, quite.