Hostname: page-component-848d4c4894-wzw2p Total loading time: 0 Render date: 2024-05-26T20:54:35.126Z Has data issue: false hasContentIssue false

Genetic Influences in Self-Reported Symptoms of Obstructive Sleep Apnoea and Restless Legs: A Twin Study

Published online by Cambridge University Press:  21 February 2012

Anup V. Desai*
Affiliation:
Lane-Fox Respiratory Unit & Sleep Disorders Centre, St Thomas' Hospital, London, United Kingdom; Centre for Respiratory Failure and Sleep Disorders, Royal Prince Alfred Hospital & The Woolcock Institute of Medical Research, Sydney, Australia. anupd@med.usyd.edu.au
Lynn F. Cherkas
Affiliation:
Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, London, United Kingdom.
Tim D. Spector
Affiliation:
Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, London, United Kingdom.
Adrian J. Williams
Affiliation:
Lane-Fox Respiratory Unit & Sleep Disorders Centre, St Thomas' Hospital, London, United Kingdom.
*
*Address for correspondence: Dr Anup Desai, Centre for Respiratory Failure and Sleep Disorders, E 11, Royal Prince Alfred Hospital, Missenden Rd, Camperdown, Sydney 2050, Australia.

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Sleep disorders, such as obstructive sleep apnoea (OSA) and restless legs syndrome (RLS), are very common. The relative importance of genetic and non-genetic (environmental) influences on the symptomatology of these conditions has not been well studied. This study uses the twin design to examine this by evaluating OSA and RLS symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Six thousand six hundred unselected female twin pairs, identified from a national volunteer twin register, were asked to complete a medical questionnaire. This questionnaire included questions on OSA and RLS symptoms, as well as questions on subject demographics, past medical history, smoking history and menopausal status. Responses were obtained from 4503 individuals (68% response rate). A total of 1937 twin pairs were evaluable: 933 MZ pairs (mean [range] age 51 [20–76] years) and 1004 DZ pairs (age 51 [20–80] years). Concordance rates were higher for MZ than DZ twins for OSA and RLS symptoms. Multifactorial liability threshold modeling suggests that additive genetic effects combined with unique environmental factors provide the best model for OSA and RLS symptoms. Heritability was estimated to be 52% (95% confidence interval 36% to 68%) for disruptive snoring, 48% (37% to 58%) for daytime sleepiness, 54% (44% to 63%) for restless legs, and 60% (51% to 69%) for legs jerking. These estimates dropped only slightly after adjustment for potential confounding influences on the symptoms of snoring and daytime sleepiness. These results suggest a substantial genetic contribution to the symptomatology of OSA and RLS. More research is needed to identify the genes responsible, and may ultimately lead to new therapies.

Type
Articles
Copyright
Copyright © Cambridge University Press 2004