TY - GEN
T1 - Thyroid epigenetics
T2 - X chromosome inactivation in patients with autoimmune thyroid disease
AU - Yin, Xiaoming
AU - Latif, Rauf
AU - Tomer, Yaron
AU - Davies, Terry F.
PY - 2007/9
Y1 - 2007/9
N2 - 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.
AB - 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.
KW - Autoimmune thyroid disease
KW - Epigenetics
KW - Graves' disease
KW - Hashimoto's thyroiditis
KW - X chromosome inactivation
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U2 - 10.1196/annals.1423.021
DO - 10.1196/annals.1423.021
M3 - Conference contribution
C2 - 17911434
AN - SCOPUS:35748941353
SN - 1573317098
SN - 9781573317092
T3 - Annals of the New York Academy of Sciences
SP - 193
EP - 200
BT - Autoimmunity, Part B Novel Applications of Basic Research
PB - Blackwell Publishing Inc.
ER -