Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease–Associated Alleles Among Large Population-Based Cohorts

JAMA Neurology - Tập 76 Số 6 - Trang 650 - 2019
Sarah L. Gardiner1,2, Merel W. Boogaard3, Stella Trompet4, Renée de Mutsert5, Frits R. Rosendaal5, Jacobijn Gussekloo6,4, J. Wouter Jukema7, Raymund A.C. Roos2, N. Ahmad Aziz8
1Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
2Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
3Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
4Section of Gerontology and Geriatrics, Department of Internal Medicine, Leiden University Medical Centre, Leiden, the Netherlands
5Department of Clinical Epidemiology, Leiden University Medical Centre, Leiden, The Netherlands
6Department of Public Health and Primary Care, Leiden University Medical Centre, Leiden, the Netherlands
7Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands
8German Centre for Neurodegenerative Diseases (DZNE), Bonn, Germany

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Orr, 2012, Polyglutamine neurodegeneration: expanded glutamines enhance native functions., Curr Opin Genet Dev, 22, 251, 10.1016/j.gde.2012.01.001

Durr, 2010, Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond., Lancet Neurol, 9, 885, 10.1016/S1474-4422(10)70183-6

Bates, 2015, Huntington disease., Nat Rev Dis Primers, 1, 15005, 10.1038/nrdp.2015.5

Penninx, 2008, The Netherlands Study of Depression and Anxiety (NESDA): rationale, objectives and methods., Int J Methods Psychiatr Res, 17, 121, 10.1002/mpr.v17:3

Comijs, 2011, The Netherlands Study of Depression in Older Persons (NESDO): a prospective cohort study., BMC Res Notes, 4, 524, 10.1186/1756-0500-4-524

de Mutsert, 2013, The Netherlands Epidemiology of Obesity (NEO) study: study design and data collection., Eur J Epidemiol, 28, 513, 10.1007/s10654-013-9801-3

Shepherd, 2002, Pravastatin in elderly individuals at risk of vascular disease (PROSPER): a randomised controlled trial., Lancet, 360, 1623, 10.1016/S0140-6736(02)11600-X

der Wiel, 2002, A high response is not essential to prevent selection bias: results from the Leiden 85-plus Study., J Clin Epidemiol, 55, 1119, 10.1016/S0895-4356(02)00505-X

Gardiner, Repeat length variations in polyglutamine disease–associated genes affect body mass index, Int J Obes

Benjamini, 1995, Controlling the false discovery rate: a practical and powerful approach to multiple testing., J R Stat Soc B, 57, 289, 10.1111/j.2517-6161.1995.tb02031.x

Wheeler, 2007, Factors associated with HD CAG repeat instability in Huntington disease., J Med Genet, 44, 695, 10.1136/jmg.2007.050930

Cubo, 2016, Clinical manifestations of intermediate allele carriers in Huntington disease., Neurology, 87, 571, 10.1212/WNL.0000000000002944

Killoran, 2013, Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS., Neurology, 80, 2022, 10.1212/WNL.0b013e318294b304

Gardiner, 2017, Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression., Transl Psychiatry, 7, e1143, 10.1038/tp.2017.116

Gardiner, 2017, Huntingtin gene repeat size variations affect risk of lifetime depression., Transl Psychiatry, 7, 1277, 10.1038/s41398-017-0042-1

Kay, 2016, Huntington disease reduced penetrance alleles occur at high frequency in the general population., Neurology, 87, 282, 10.1212/WNL.0000000000002858

Langbehn, 2004, A new model for prediction of the age of onset and penetrance for Huntington’s disease based on CAG length., Clin Genet, 65, 267, 10.1111/j.1399-0004.2004.00241.x

Menon, 2013, The role of interruptions in polyQ in the pathology of SCA1., PLoS Genet, 9, e1003648, 10.1371/journal.pgen.1003648

Semaka, 2013, CAG size–specific risk estimates for intermediate allele repeat instability in Huntington disease., J Med Genet, 50, 696, 10.1136/jmedgenet-2013-101796

Takano, 1998, Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations., Am J Hum Genet, 63, 1060, 10.1086/302067

Kay, 2018, The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population., Am J Med Genet B Neuropsychiatr Genet, 177, 346, 10.1002/ajmg.b.32618

Tang, 2017, Profiling of short-tandem-repeat disease alleles in 12,632 human whole genomes., Am J Hum Genet, 101, 700, 10.1016/j.ajhg.2017.09.013

Opal, 1993, GeneReviews

Pulst, 1998, GeneReviews

Gomez, 1993, GeneReviews

Garden, 1993, GeneReviews

Toyoshima, 1993, GeneReviews

Caron, 1998, GeneReviews

Veneziano, 1993, GeneReviews

La Spada, 1993, GeneReviews

Paulson, 1998, GeneReviews