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Kleine-Levin syndrome is associated with birth difficulties and genetic variants in the TRANK1 gene loci
A. Ambati, R. Hillary, S. Leu-Semenescu, HM. Ollila, L. Lin, EH. During, N. Farber, TJ. Rico, J. Faraco, E. Leary, AN. Goldstein-Piekarski, YS. Huang, F. Han, Y. Sivan, M. Lecendreux, P. Dodet, M. Honda, N. Gadoth, S. Nevsimalova, F. Pizza, T....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
R01 MH080957
NIMH NIH HHS - United States
S10 OD023452
NIH HHS - United States
NLK
Free Medical Journals
od 1915
Freely Accessible Science Journals
od 1915 do Před 6 měsíci
PubMed Central
od 1915 do Před 6 měsíci
Europe PubMed Central
od 1915 do Před 6 měsíci
Open Access Digital Library
od 1915-01-15
Open Access Digital Library
od 1915-01-01
PubMed
33737391
DOI
10.1073/pnas.2005753118
Knihovny.cz E-zdroje
- MeSH
- bipolární porucha etiologie MeSH
- cytokiny genetika MeSH
- genetická predispozice k nemoci MeSH
- genetická variace * MeSH
- genetické asociační studie MeSH
- hodnocení rizik MeSH
- Kleineho-Levinův syndrom komplikace epidemiologie genetika MeSH
- komplikace porodu epidemiologie etiologie MeSH
- lidé MeSH
- náchylnost k nemoci * MeSH
- odds ratio MeSH
- polymorfismus genetický MeSH
- poruchy nadměrné spavosti etiologie MeSH
- rizikové faktory MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 × 10-9) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R2 = 0.15; P < 2.0 × 10-22 at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.
Center for Sleep Sciences and Medicine Stanford University School of Medicine Palo Alto CA 94304
Department of Biomedical and Clinical Sciences Linköping University Linköping 581 83 Sweden
Department of Biomedical and Neuromotor Sciences University of Bologna 40139 Bologna Italy
Department of Child Psychiatry Chang Gung Memorial Hospital and University Taoyuan 33305 Taiwan
Department of Neurology and Neurological Sciences Stanford University Stanford CA 94305
Department of Neurology Emory University Atlanta GA 30322
Department of Neurology Innsbruck Medical University 6020 Innsbruck Austria
Department of Neurology Maynei Hayeshua Medical Center 5154475 Bnei Barak Israel
Department of Neuropharmacology Nagoya City University Nagoya 467 8601 Japan
Department of Neuroscience Uppsala University Uppsala 752 36 Sweden
Department of Psychiatry and Behavioral Sciences Stanford University Stanford CA 94305
Department of Pulmonary Medicine Peking University People's Hospital Beijing 100044 China
Hephata Klinik Philipps Universität Marburg 35037 Marburg Germany
Histocompatibility Department Blood Center of the Community of Madrid 28032 Madrid Spain
International Institute for Integrative Sleep Medicine University of Tsukuba Tsukuba 305 0005 Japan
Kleine Levin Syndrome Foundation Boston MA 02468
Sleep Center Chang Gung Memorial Hospital and University Taoyuan 33305 Taiwan
Sleep Disorders Center Hôpitaux Universitaires de Strasbourg 67091 Strasbourg France
Sleep Disorders Centre Guy's Hospital SE1 9RT London United Kingdom
The Sackler Faculty of Medicine Tel Aviv University 6997801 Tel Aviv Israel
Citace poskytuje Crossref.org
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- $a Kleine-Levin syndrome (KLS) is a rare disorder characterized by severe episodic hypersomnia, with cognitive impairment accompanied by apathy or disinhibition. Pathophysiology is unknown, although imaging studies indicate decreased activity in hypothalamic/thalamic areas during episodes. Familial occurrence is increased, and risk is associated with reports of a difficult birth. We conducted a worldwide case-control genome-wide association study in 673 KLS cases collected over 14 y, and ethnically matched 15,341 control individuals. We found a strong genome-wide significant association (rs71947865, Odds Ratio [OR] = 1.48, P = 8.6 × 10-9) within the 3'region of TRANK1 gene locus, previously associated with bipolar disorder and schizophrenia. Strikingly, KLS cases with rs71947865 variant had significantly increased reports of a difficult birth. As perinatal outcomes have dramatically improved over the last 40 y, we further stratified our sample by birth years and found that recent cases had a significantly reduced rs71947865 association. While the rs71947865 association did not replicate in the entire follow-up sample of 171 KLS cases, rs71947865 was significantly associated with KLS in the subset follow-up sample of 59 KLS cases who reported birth difficulties (OR = 1.54, P = 0.01). Genetic liability of KLS as explained by polygenic risk scores was increased (pseudo R2 = 0.15; P < 2.0 × 10-22 at P = 0.5 threshold) in the follow-up sample. Pathway analysis of genetic associations identified enrichment of circadian regulation pathway genes in KLS cases. Our results suggest links between KLS, circadian regulation, and bipolar disorder, and indicate that the TRANK1 polymorphisms in conjunction with reported birth difficulties may predispose to KLS.
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