Epigenetics Study
Research type
Research Study
Full title
DNA Methylation and Gender Development in Girls with Congenital Adrenal Hyperplasia and in Their Unaffected Sisters
IRAS ID
151365
Contact name
Melissa Hines
Contact email
Clinicaltrials.gov Identifier
609/M/C/1147, Insurance/Indemnity
Research summary
DNA Methylation and Gender Development in Girls with Congenital Adrenal Hyperplasia and in Their Unaffected Sisters
Hormones, particularly androgens like testosterone, before birth affect child and adolescent sex-typed preferences, activities, and self-perceptions. Yet we do not know how such hormonal effects unfold. In animals, testosterone can influence DNA methylation – a gene regulation process that attaches a methyl group to a cytosine located right in the upstream of a guanine and suppresses gene transcription. The study will investigate whether DNA methylation might mediate the relation between androgens and behaviour in humans. Girls with congenital adrenal hyperplasia (CAH) are exposed to elevated androgens prenatally, and show psychological and behavioural masculinisation compared to their sisters without CAH. We wish to find out whether girls with and without CAH also show different DNA methylation patterns, and whether these patterns relate to their psychological and behavioural development. We will follow-up eligible participants (12 girls with CAH and 12 unaffected sisters) from a previous study, and compare their DNA methylome in saliva samples. The DNA data will then be linked to parental and/or self-reports of current sex-typed behaviour and gender identity (self-perceptions of being a boy or a girl), and to gendered behaviour assessed in the previous study. We also will ask about medical background and pubertal development, and take saliva samples to measure participants’ current levels of testosterone and oestradiol, because these may also affect behaviour and DNA methylation. None of the study procedures (saliva collection, interviews, questionnaires) will be invasive.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
14/EE/1035
Date of REC Opinion
1 Sep 2014
REC opinion
Further Information Favourable Opinion