Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease

Xiaoming Yin, Rauf Latif, Yaron Tomer, Terry F. Davies

Research output: Chapter in Book/Report/Conference proceedingConference contribution

70 Scopus citations


The autoimmune thyroid diseases (AITDs) are female-predominant diseases with a ratio of approximately seven females to each male. X chromosome inactivation (XCI), an epigenetic phenomenon, has been suggested to be skewed in many such female patients with AITD. We analyzed female genomic DNA from 87 patients with Graves' disease (GD), 47 patients with Hashimoto's thyroiditis (HT), and 69 healthy controls. Using an XCI assay based on Hpa II digestion and PCR and DNA sequencing, we found skewed heterozygous XCI (≥80%) in 20 of 70 GD patients (28.6%) and 11 of 43 HT patients (25.6%), giving a total of 31 of 113 AITD patients (27.4%) with skewed XCI. In contrast, only 5 of 58 healthy controls had skewed XCI (8.6%). Statistical analysis confirmed that XCI skewing was significantly associated with AITD (P = 0.004, OR = 4.0), demonstrating that the degree of XCI is an important contributor to the increased risk of females in developing AITD.

Original languageEnglish (US)
Title of host publicationAutoimmunity, Part B Novel Applications of Basic Research
PublisherBlackwell Publishing Inc.
Number of pages8
ISBN (Print)1573317098, 9781573317092
StatePublished - Sep 2007
Externally publishedYes

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632


  • Autoimmune thyroid disease
  • Epigenetics
  • Graves' disease
  • Hashimoto's thyroiditis
  • X chromosome inactivation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science


Dive into the research topics of 'Thyroid epigenetics: X chromosome inactivation in patients with autoimmune thyroid disease'. Together they form a unique fingerprint.

Cite this