Genetic variants associated with sleep disorders.
Bottom Line: In aryl hydrocarbon receptor nuclear translocator-like (ARNTL), rs10766071 was associated with decreased polysomnographic sleep duration.SNPs in casein kinase 1 delta (CSNK1D rs11552085), cryptochrome 1 (CRY1 rs4964515), and retinoic acid receptor-related orphan receptor A (RORA rs11071547) were less persuasively associated with sleep latency and time of falling asleep.SNPs associated with several sleep phenotypes were suggested, but due to risks of false discovery, independent replications are needed before the importance of these associations can be assessed, followed by investigation of molecular mechanisms.
Affiliation: Viterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA. Electronic address: email@example.com.Show MeSH
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Mentions: As previously reported , BTBD9 rs3923809 was associated with the leg movement indices with Bonferroni significance. The less common allele is associated with fewer leg movements (Fig. 4). BTBD9 rs3923809 was also nominally associated with polysomnographic total sleep time, sleep efficiency, and REM latency, all of which associations might be mediated by periodic limb movements causing sleep disturbance. Our findings partially replicate the previous reports of Stefansson et al.  and Winkelmann, et al. . However, we did not replicate any association of rs3923809 with restless legs, nor could we replicate an association of any of five MAP2K5 SNPs with restless legs , an outcome rather similar to that in the Wisconsin cohort . One limitation of our method was that we did not isolate an RLS subsample focused on those with familial RLS . But our strategy was directed towards SNPs that would impact RLS susceptibility in a sleep clinic sample in which familiality was not a criterion. An association of MEIS1 rs6710341 with restless legs  was confirmed by the replication criterion of P < 0.05, but the association of rs2300478  was not replicated in the questionnaire data. In a supplementary logistic regression based on physician recorded research diagnoses of restless legs syndrome (not shown), of the nine SNPs of BTBD9, MEIS1, and MAP2K examined for replication, only MEIS1 rs2300478 reached nominal significance (P < 0.05).
Affiliation: Viterbi Family Sleep Center, Scripps Clinic, La Jolla, CA, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA, USA. Electronic address: firstname.lastname@example.org.