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Related Experiment Video

Updated: Jul 18, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis.

F Ferrera¹, M Rizzi, B Sprecacenere

¹Centre of Excellence for Biomedical Research, University of Genoa, Viale Benedetto XV, 7 16132 Genoa, Italy. fferrera@unige.it

Clinical Immunology (Orlando, Fla.)

|November 15, 2006

Summary

Genetic variants in the autoimmune regulator (AIRE) gene may influence clinical features of systemic sclerosis (SSc). A specific AIRE gene polymorphism, G11107A, showed a significant correlation with SSc and autoimmune thyroiditis.

Related Experiment Videos

Last Updated: Jul 18, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model

Published on: March 17, 2023

Area of Science:

Genetics
Immunology
Dermatology

Background:

Mutations in the autoimmune regulator (AIRE) gene cause autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Systemic sclerosis (SSc) is an autoimmune disease with prominent skin involvement, often co-occurring with APECED-like conditions.
The role of AIRE gene variants in SSc pathogenesis and clinical presentation remains underexplored.

Purpose of the Study:

To investigate the association between AIRE gene variants and systemic sclerosis.
To explore potential correlations between specific AIRE gene polymorphisms and clinical manifestations in SSc patients, particularly those with co-existing autoimmune thyroiditis.

Main Methods:

Genotyping of 19 SSc patients, 22 SSc patients with autoimmune thyroiditis, and 100 healthy controls.
Analysis of 11 known and one novel AIRE gene variants.
Statistical correlation analysis between AIRE gene polymorphisms and clinical phenotypes.

Main Results:

Eleven AIRE gene variants were identified, including one novel variant.
A significant correlation was observed between the intronic polymorphism G11107A and the presence of SSc combined with autoimmune thyroiditis.
Preliminary data suggest a potential link between AIRE gene variants and diverse clinical outcomes in SSc.

Conclusions:

AIRE gene variants may contribute to the susceptibility and clinical heterogeneity of systemic sclerosis.
The identified intronic polymorphism G11107A is a potential biomarker for SSc associated with autoimmune thyroiditis.
Further research is warranted to elucidate the functional impact of AIRE gene variants on SSc development and progression.