It has always looked to me as if there is a genetic component to thyroid disease - and specifically to Hashimoto's. Now not one, but two papers...
J Autoimmun. 2017 Sep 21. pii: S0896-8411(17)30528-0. doi: 10.1016/j.jaut.2017.09.003. [Epub ahead of print]
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.
Lo MS1, Towne M2, VanNoy GE2, Brownstein CA2, Lane AA3, Chatila TA4, Agrawal PB5.
Author information
1 Divisions of Immunology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States. Electronic address: mindy.lo@childrens.harvard.edu.
2 Genetics and Genomics, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
3 Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States.
4 Divisions of Immunology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States.
5 Genetics and Genomics, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; Division of Newborn Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA, United States; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.
Abstract
BACKGROUND:
Risk of autoimmune thyroid disease (AITD) is strongly heritable. Multiple genes confer increased risk for AITD, but a monogenic origin has not yet been described. We studied a family with apparent autosomal dominant, early onset Hashimoto thyroiditis.
METHODS:
The family was enrolled in an IRB-approved protocol. Whole exome sequencing was used to study the proband and an affected sibling. The identified variant was studied in other family members by Sanger sequencing.
RESULTS:
We identified a previously unreported splice site variant in the thyroglobulin gene (TG c.1076-1G > C). This variant was confirmed in all affected family members who underwent testing, and also noted in one unaffected child. The variant is associated with exon 9 skipping, resulting in a novel in-frame variant transcript of TG.
CONCLUSION:
We discovered a monogenic form of AITD associated with a splice site variant in the thyroglobulin gene. This finding raises questions about the origins of thyroid autoimmunity; possible explanations include increased immunogenicity of the mutated protein or thyroid toxicity with secondary development of anti-thyroid antibodies. Further study into the effects of this variant on thyroid function and thyroid autoimmunity are warranted.
Copyright © 2017 Elsevier Ltd. All rights reserved.
PMID: 28942902
DOI: 10.1016/j.jaut.2017.09.003
ncbi.nlm.nih.gov/pubmed/289...
CLINICAL THYROIDOLOGY FOR THE PUBLIC
A publication of the American Thyroid Association
Summaries for the Public from recent articles in Clinical Thyroidology
HYPOTHYROIDISM
First-degree family members of patients with hypothyroidism due to Hashimoto’s Thyroiditis have an increased risk of developing hypothyroidism
BACKGROUND
The most common cause of hypothyroidism is Hashimoto’s thyroiditis. This is an autoimmune disease where the patient’s antibodies, which usually fight infection, get confused and attack the body. In the case of Hashimoto’s thyroiditis, the antibodies attack the thyroid and destroy it. As the disease progresses, the thyroid gland is unable to produce enough thyroid hormone and the patients develop hypothyroidism. Family members of patients with hypothyroidism due to Hashimoto’s thyroiditis have a higher risk to develop this disorder, but it is unclear what degree is this risk. The aim of this study was to evaluate the risk of developing the disease in firstdegree relatives (parents, children, siblings) of patients with hypothyroidism due to Hashimoto’s thyroiditis as compared with the general population in an Indian population.
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