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Vol. 71, No. 4, 2011
Issue release date: September 2011
Section title: Original Paper
Open Access Gateway
Hum Hered 2011;71:281–288
(DOI:10.1159/000330167)

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

Al-Chalabi A.a · Lewis C.M.b, c
aDepartment of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, bMedical Research Council Social, Genetic and Developmental Psychiatry Centre, and cDepartment of Medical and Molecular Genetics, King’s College London, London, UK
email Corresponding Author

Prof. Ammar Al-Chalabi

MRC Centre for Neurodegeneration Research

Institute of Psychiatry P 041

London SE5 8AF (UK)

Tel. +44 20 7848 5187, E-Mail ammar.al-chalabi@kcl.ac.uk


References

  1. Bodmer W, Bonilla C: Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008;40:695–701.
  2. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM: Finding the missing heritability of complex diseases. Nature 2009;461:747–753.
  3. Yang J, Visscher PM, Wray NR: Sporadic cases are the norm for complex disease. Eur J Hum Genet;18:1039–1043.
  4. Goldgar DE, Cannon-Albright LA, Oliphant A, Ward JH, Linker G, Swensen J, Tran TD, Fields P, Uharriet P, Skolnick MH: Chromosome 17q linkage studies of 18 Utah breast cancer kindreds. Am J Hum Genet 1993;52:743–748.
  5. Goldgar DE, Fields P, Lewis CM, Tran TD, Cannon-Albright LA, Ward JH, Swensen J, Skolnick MH: A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis. J Natl Cancer Inst 1994;86:200–209.
  6. Bowcock AM, Anderson LA, Friedman LS, Black DM, Osborne-Lawrence S, Rowell SE, Hall JM, Solomon E, King MC: THRA1 and D17S183 flank an interval of <4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21. Am J Hum Genet 1993;52:718–722.
  7. Beleza-Meireles A, Al-Chalabi A: Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives. Amyotroph Lateral Scler 2009;10:1–14.
  8. Johnston CA, Stanton BR, Turner MR, Gray R, Blunt AH, Butt D, Ampong MA, Shaw CE, Leigh PN, Al-Chalabi A: Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J Neurol 2006;253:1642–1643.
  9. Andersen PM, Nilsson P, Keranen ML, Forsgren L, Hagglund J, Karlsborg M, Ronnevi LO, Gredal O, Marklund SL: Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn-superoxide dismutase mutations in Scandinavia. Brain 1997;120:1723–1737.

    External Resources

  10. Byrne S, Walsh C, Lynch C, Bede P, Elamin M, Kenna K, McLaughlin R, Hardiman O: Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2011;82:623–627.

    External Resources

  11. Kurian KM, Forbes RB, Colville S, Swingler RJ: Cause of death and clinical grading criteria in a cohort of amyotrophic lateral sclerosis cases undergoing autopsy from the Scottish motor neurone disease register. J Neurol Neurosurg Psychiatry 2009;80:84–87.
  12. Wroe R, Wai-Ling Butler A, Andersen PM, Powell JF, Al-Chalabi A: ALSoD: the amyotrophic lateral sclerosis online database. Amyotroph Lateral Scler 2008;9:249–250.
  13. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX, et al: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59–62.
  14. Andersen PM, Restagno G, Stewart HG, Chio A: Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene. Ann Neurol 2004;55:298–299; author reply 299.

    External Resources

  15. Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr: Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord 2003;4:62–73.
  16. Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chio A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH Jr, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A: Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010;9:986–994.
  17. Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, Siddique T, Schelhaas HJ, Kusters B, Troost D, Baas F, de Jong V, Shaw CE: Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3. Brain 2006;129:868–876.
  18. Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr: A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006;66:839–844.
  19. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nothen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009;41:1083–1087.
  20. Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL, 3rd, Ferrer I, Llado A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tunon MT, Martinez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ, Lee VM: Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010;42:234–239.
  21. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, Dearmond S, Miller BL, Rademakers R: Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2011;82:196–203.

    External Resources

  22. Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, Sulkava R, Jansson L, Hernandez DG, Gibbs JR, Nalls MA, Heckerman D, Tienari PJ, Traynor BJ: Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010;9:978–985.
  23. Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerriere A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A: Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 2009;72:1669–1676.
  24. Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, Murray A, Hernandez D, Guerreiro R, Singleton AB, Neal J, Morris HR: Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 2011;258:647–655.

    External Resources

  25. Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, Dobson-Stone C, Panegyres PK, Hecker J, Nicholson GA, Halliday GM, Schofield PR: Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008;8:32.

    External Resources

  26. Jefferies J: Births in England and Wales – Cohort Fertility 2009, Statistical Bulletin. Office of National Statistics, 2010.
  27. Kane P, Choi CY: China’s one child family policy. BMJ 1999;319:992–994.
  28. Ginsburg E, Malkin I, Elston RC: Sampling correction in pedigree analysis. Stat Appl Genet Mol Biol 2003;2: Article 2.
  29. Burton PR, Palmer LJ, Jacobs K, Keen KJ, Olson JM, Elston RC: Ascertainment adjustment: where does it take us? Am J Hum Genet 2000;67:1505–1514.
  30. So HC, Gui AH, Cherny SS, Sham PC: Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases. Genet Epidemiol 2011;35:310–317.

    External Resources

  31. Lee SH, Wray NR, Goddard ME, Visscher PM: Estimating missing heritability for disease from genome-wide association studies. Am J Hum Genet 2011;88:294–305.

    External Resources