Scanning of estrogen receptor α (ERα) and thyroid hormone receptor α (TRα) genes in patients with psychiatric diseases: Four missense mutations identified in ERα gene

Feng, Jinong, Yan, Jin, Michaud, Shawneen, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Cook, Edwin H., Goldman, David, Heston, Leonard L., Peltonen, Leena, Delisi, Lynn E. and Sommer, Steve S. 2001. Scanning of estrogen receptor α (ERα) and thyroid hormone receptor α (TRα) genes in patients with psychiatric diseases: Four missense mutations identified in ERα gene. American Journal of Medical Genetics 105 (4) , pp. 369-374. 10.1002/ajmg.1364

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Abstract

Estrogen and thyroid hormones exert effects on growth, development, and differentiation of the nervous system. Hormone administration can lead to changes in behavior, suggesting that genetic variants of the estrogen receptor α (ERα) and the thyroid hormone receptor α (TRα) genes may predispose to psychiatric diseases. To investigate this possibility, regions of likely functional significance (all coding exons and flanking splice junctions) of the ERα and TRα genes were scanned in patients with schizophrenia (113), along with pilot studies in patients with bipolar illness (BPI), puerperal psychosis, autism, attention-deficit hyperactivity disorder (ADHD), and alcoholism. A total of 1.18 megabases of the ERα gene and 1.16 megabases of the TRα gene were scanned with Detection of Virtually All Mutations-SSCP (DOVAM-S), a method that detects virtually all mutations. Four missense mutations, seven silent mutations and one deletion were identified in the ERα gene, while only four silent mutations were present in the TRα gene. Two of the missense mutations in ERα are conserved in the six available mammalian and bird species (H6Y, K299R) and a third sequence variant (P146Q) is conserved in mammals, birds, and Xenopus laevis, hinting that these sequence changes will be of functional significance. These changes were found in one patient each with BPI, puerperal psychosis, and alcoholism, respectively. Analysis of the ERα and TRα genes in 240 subjects reveals that missense changes and splice site variants are uncommon (1.7% and 0%, respectively). Further analyses are necessary to determine if the missense mutations identified in this study are associated with predisposition or outcome for either psychiatric or nonpsychiatric diseases.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Liss
ISSN:	0148-7299
Last Modified:	27 Oct 2022 08:24
URI:	https://orca.cardiff.ac.uk/id/eprint/62177

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