- Family-based analysis
- High-risk pedigrees
A unique genealogical resource linked to phenotype data was created in Utah over 30 years ago. Here we review the history and content of this resource. In addition, we review three current methodologies used in conjunction with this resource to define the heritable contribution to phenotypes and to identify predisposition genes responsible for these phenotypes. Example analyses and high-risk pedigrees are presented. Finally we briefly review ways this resource, or others like it, may expand in future.
Copyright © 2007 S. Karger AG, Basel
- Skolnick M: The Utah genealogical database: A resource for genetic epidemiology; in Cairns J, Lyon JL, Skolnick M (eds): Banbury Report No 4; Cancer. Incidence in Defined Populations. New York, Cold Spring Harbor Laboratory, 1980, pp 285–297.
- Dintelman SM, Maness AT, Skolnick MH, Bean LL: GENISYS: A genealogical system; in Dyke D, Morrill WT (ed): Genealogical Demography. New York, Academic Press, 1980.
- Wylie JE, Mineau GP: Biomedical databases: protecting privacy and promoting research. Trends Biotechnol 2003;21:113–116.
- Mineau GP, Trussell J: A specification of marital fertility by parents’ age, age at marriage and marital duration. Demography 1982;19:335–350.
- Bean LL, Mineau GP: The polygyny-fertility hypothesis: a re-evaluation. Popul Stud 1986;40:67–81.
- Jorde LB: Inbreeding in the Utah Mormons: an evaluation of estimates based on pedigrees, isonymy, and migration matrices. Ann Jum Genet 1989;53:339–355.
- Hill JR: A kinship survey of cancer in the Utah Mormon population. Ph.D. Thesis, University of Utah, Salt Lake City, Utah, 1980a.
- Hill JR: A survey of cancer sites by kinship in the Utah Mormon population; in Cairns J, Lyon JL, Skolnick M (eds): Banbury Report 4: Cancer Incidence in Defined Populations. Cold Spring Harbor, Cold Spring Harbor Laboratory, 1980b;299:318.
- Malecot G: Les Mathematiques de L’heredite. Paris, Masson, 1948.
- Cannon Albright LA, Thomas A, Goldgar DE, Gholami K, Rowe K, Jacobsen M, McWhorter WP, Skolnick MH: Familiality of Cancer in Utah. Cancer Res 1994;54:2378–2385.
- Rowe KG: Record Linking and Genetic Analysis of Utah Death Certificates. Doctoral Dissertation, University of Utah, Salt Lake City, Utah, 1996.
- Skolnick M, Bishop DT, Carmelli D, Gardner E, Hadley, R, Hasstedt, S, Hill JR, Hunt S, Lyon JL, Smart CR, Williams RR: A population-based assessment of familial cancer risk in Utah Mormon genealogies; in Arrighi FE, Rao PN, Stubblefield E (eds): Genes, Chromosomes, and Neoplasia. New York, Raven Press, 1981, pp 477–500.
- Cannon L, Bishop DT, Skolnick MH, Hunt S, Lyon JL, Smart C: Genetic epidemiology of prostate cancer in the Utah Mormon genealogy. Cancer Surveys; 1982;1:1.
- Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH: A systematic population-based assessment of cancer risk in first-degree relative of cancer probands. J Natl Cancer Inst 1994;86:1600–1608.
- Thomas A, Cannon-Albright L, Bansal A, Skolnick MH: Familial associations between cancer sites. Comput Biomed Res 1999;32:517–529.
- Cannon Albright LA, Camp NJ, Farnham JM, MacDonald J, Abtin K, Rowe KG: A genealogical assessment of heritable predisposition to aneurysms. J Neurosurg 2003;99:637–643.
- Horne BD, Camp NJ, Muhlestein J, Cannon Albright LA: Evidence for a heritable component in death resulting from aortic and mitral valve diseases. Circulation 2004;110:3143–3148.
- Horne BD, Camp NJ, Muhlestein JB, Cannon Albright LA: Identification of excess clustering of coronary heart diseases among extended pedigrees in a genealogical population database. Am Heart J 2006;152:305–311.
- Goldfarb-Rumyantzev AS, Arsalan N, Habib AN, Wang BJ, Lin S, Baird B, Cheung AK, Cannon Albright LA: A Population-based assessment of the familial component of chronic kidney disease mortality. Am J Nephrol 2006;26:142–148.
- Allen-Brady K, Camp NJ, Ward JH, Cannon Albright LA: Lobular breast cancer: excess familiality observed in the Utah Population Database. Int J Cancer 2005;117:655–661.
- Cannon Albright LA, Schwab A, Camp NJ, Farnham JS, Thomas A: Population-based Risk Assessment for Other Cancers in Relatives of Hereditary Prostate Cancer (HPC) Cases. Prostate 2005a;64:347–355.
- Larson AA, Leachman SA, Eliason MJ, Cannon Albright LA: Population-based assessment of non-melanoma cancer risk in relatives of cutanceous melanoma probands. J Inv Derm 2006;127:183–188.
- Sveinbjornsdottir S, Hicks AA, Jonsson T, Petursson H, Gugmundsson G, Frigge ML, Kong A, Gulcher JR, Stefansson K: Familial aggregation of Parkinson’s disease in Iceland. N Engl J Med 2000;343:1765–1770.
- Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Kivlin J, Willard H, Nakamura Y, O’Connell P, Leppert M, White R, Skolnick MH: Gene for von Recklinhausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;236:1100–1102.
- Atkin CL, Hasstedt SJ, Menlove L, Cannon Albright LA, Kirschner N, Schwartz C, Nguyen K, Kinkel L, Bruns G, Skolnick MH: Mapping of alport syndrome to the long arm of the X chromosome. Am J Hum Genet 1988;42:249–255.
- Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, Olopade OI, Diaz MO, Kwiatkowski DJ, Piepkorn MW, Zone JJ, Skolnick MH: Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-pss. Science 1992;258:1148–1152.
- Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 1994;8:22–26.
- Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Husse C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the 17q-linked breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66–71.
- Wooster R, Neuhausen S, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir G, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis C, Cannon-Albright L, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar De, Stratton MR: Localization of a breast cancer susceptibility gene (BRCA2) to chromosome 13q12–13. Science 1994;265:2088–2090.
- Tavtigian SV, Simard J, Rommens J, Shattuck-Ediens D, Couch F, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Bery S, Bodgen R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Anecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, Peng Y, Samson C, Schroeder M, Snyder S, Stringfellw M, Stroup C,Swedlund B, Swensen J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AKC, Shizuya H, Eyfjord JE, Cannon-Albright L, Labrie F, Skolnick M, Weber B, Kamb A, Goldgar DE: The complete BRCA2 gene and mutations in 13q-linked kindreds. Nature Genet 1996;12:333–337.
- Tavtigian SV, Simard J, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dyananth P, Desrochers M, Dumont M, Farnham MJ, Frand D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt Am Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Teterson KT, Reid JE, Richards S, Schroider M, Smith R, Snyder SC, Swedlund B, Swensen J, Teng DHF, Thomas A, Tranchant M, Woodland A-M, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA: A strong candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 2001;27:172–180.
- Easton DF, Schaid DJ, Whittemore AS, Isaacs WJ; International Consortium for Prostate Cancer Genetics. Where are the prostate cancer genes? – A summary of eight genome wide searches. Prostate 2003;57:261–269.
- Cannon Albright LA, Farnham JM, Thomas A, Camp NJ: Identification and study of Utah pseudo-isolate populations – prospects for gene identification. Am J Med Genet 2005;137:269–275.
- Skolnick M: Prospects for population oncogenetics; in Mulvihill JJ, Miller RW, Fraumeni JF Jr (eds): Genetics of Human Cancer. New York, Raven Press, 1977.
- Farnham JM, Camp NJ, Swensen J, Tavtigian SV, Cannon Albright LA: Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. Hum Genet 2005;116:179–185.
- Camp NJ, Farnham JM, Cannon Albright LA: Genomic search for prostate cancer predisposition loci in Utah pedigrees. Prostate 2005;65:365–374.
- Goring HH, Terwilliger JD: Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes. Am J Hum Genet 2000;66:1095–1106.
- Thomas A, Gutin A, Abkevich V, Bansal A: Multipoint linkage analysis by blocked Gibbs sampling. Stat Comput 2000;10:259–269.
- Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241–247.
- Christensen GB, Camp NJ, Farnham JM, Cannon Albright LA: Genome wide linkage analysis for aggressive prostate cancer in Utah high risk pedigrees. Prostate, in press.
- Neuhausen SL, Farnham JM, Kort E, Tavtigian SV, Skolnick MH, Cannon Albright LA: Prostate cancer susceptibility locus HPC1 in Utah high-risk families. Hum Mol Genet 1999;8: 2437–2442.
- Thomas A, Skolnick MH, Lewis CM: Genomic mismatch scanning in pedigrees. IMA J Math Appl Med Biol 1994;11:1–16.
Lisa A. Cannon Albright, PhD
Division of Genetic Epidemiology
391 Chipeta Way, Suite D
Salt Lake City, UT 84108 (USA)
Tel. +1 801 587 9300, Fax +1 801 581 6052, E-Mail email@example.com
Received: April 20, 2007
Accepted after revision: July 30, 2007
Published online: Decembre 11, 2007
Number of Print Pages : 12
Number of Figures : 6, Number of Tables : 6, Number of References : 42
Human Heredity (International Journal of Human and Medical Genetics)
Vol. 65, No. 4, Year 2008 (Cover Date: January 2008)
Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (Print), eISSN: 1423–0062 (Online)
For additional information: http://www.karger.com/HHE
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.