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AATF and SMARCA2 are associated with thyroid volume in Hashimoto's thyroiditis patients
Luka Brčić1, Ana Barić2, Benjamin Benzon3
1Department of Medical Biology, University of Split, School of Medicine, Split, Croatia.
Scientific Reports
|February 6, 2020
Summary
Thyroid volume in Hashimoto's thyroiditis (HT) patients is linked to genetic factors influencing apoptosis. Specific gene variants in AATF and SMARCA2 are associated with altered thyroid size and increased cell death in HT.
Area of Science:
- Genetics and Molecular Biology
- Endocrinology
- Immunology
Background:
- Thyroid volume in Hashimoto's thyroiditis (HT) fluctuates and may indicate thyroid function changes.
- Increased thyroid volume is common in subclinical hypothyroidism, while smaller volumes suggest more severe disease, potentially due to thyrocyte apoptosis.
- The genetic underpinnings of thyroid volume regulation in HT remain largely unexplored.
Purpose of the Study:
- To investigate the genetic associations with thyroid volume in Hashimoto's thyroiditis patients.
- To explore the roles of apoptosis-related genes in regulating thyroid volume within the context of HT.
- To correlate genetic findings with protein expression and apoptotic markers in thyroid tissues.
Main Methods:
- Genome-wide association study (GWAS) meta-analysis of thyroid volume in 345 HT patients across 6,007,322 autosomal variants.
- Immunohistochemical analysis of thyroid tissues to assess protein expression and apoptosis markers.
- Comparison of genetic risk genotypes with protein expression levels and apoptosis rates between HT patients and controls.
Main Results:
- Genome-wide significant associations were found for two loci: rs7212416 within AATF (apoptosis-antagonizing transcription factor) and rs10738556 near SMARCA2 (chromatin-remodeling).
- HT patients with homozygous AATF risk genotypes showed decreased AATF expression and significantly increased apoptosis.
- HT patients with heterozygous SMARCA2 risk genotypes also exhibited significantly increased apoptosis, with a trend towards decreased SMARCA2 expression.
Conclusions:
- The genetic loci AATF and SMARCA2 are implicated in determining thyroid volume in Hashimoto's thyroiditis patients.
- These findings highlight the role of apoptosis in the pathophysiology of thyroid volume changes in HT.
- The study provides novel insights into the biological mechanisms underlying thyroid gland alterations in HT.
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