The allelic structure of common disease

Human Molecular Genetics

Volumn 11, Issue 20, 2002, Pages 2455-2461

  Smith, Desmond J ^a,b   Lusis, Aldons J ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AFFECTIVE NEUROSIS; ALLELE; ALZHEIMER DISEASE; ASTHMA; AUTOIMMUNE DISEASE; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; ENTERITIS; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILIAL HYPERLIPEMIA; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE STRUCTURE; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HEART INFARCTION; HEMOCHROMATOSIS; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; NARCOLEPSY; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; REVIEW;

EID: 0036798007     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.20.2455     Document Type: Review

References (30)

1. Peltonen, L., Palotie, A. and Lange, K. (2000) Use of population isolates for mapping complex traits. Nat. Rev. Genet., 1, 182-190.
2. Reich, D.A. and Lander, E.S. (2001) On the allelic spectrum of human disease. Trends Genet., 17, 502-510.
3. Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, I. and Francomano, C.A. (1995) Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am. J. Hum. Genet., 56, 368-373.
4. Crow, J.F. (2000) The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet., 1, 40-47.
5. Eyre-Walker, A. and Keightley, P.D. (1999) High genomic deleterious mutation rates in hominids. Nature, 397, 344-347.
6. Peltomaki, P. (2001) Deficient DNA mismatch repair: a common etiologic risk factor for colon cancer. Hum. Mol. Genet., 10, 735-740.
7. Sakanaranarayanan, K. (1998) Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective. Mutat. Res., 411, 129-178.
8. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim/
9. Jackson Laboratory Website. http://www.jax.org
10. Risch, N. (2001) The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol. Biomarkers Prev., 10, 733-741.
11. Aouizerat, B.E., Allayee, H., Cantor, R.M., Davis, R.C., Lanning, C.D., Wen, P-Z., Dallinga-Thie, G.M., deBruin, T.W.A., Rotter, J.I. and Lusis, A.J. (1999) A genome scan for familial combined hyperlipidemia reveals evidence for a locus on chromosome 11. Am. J. Hum. Genet., 65, 397-412.
12. Roa, B.B., Boyd, A.A., Volcik, K. and Richards, C.S. (1996) Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat. Genet., 14, 185-187.
13. Mitchison, A. (1997) Partitioning of genetic variation between regulatory and coding gene segments: the predominance of software variation in genes encoding introvert proteins. Immunogenetics, 46, 46-52.
14. Catalano, M. (2001) Functionally gene-linked polymorphic regions and genetically controlled neurotransmitters metabolism. Eur. Neuropsychopharmacol., 11, 431-439.
15. Uhl, J., Klan, N., Rose, M., Entian, K.D., Werz, O. and Steinhilber, D. (2002) The 5-lipoxygenase promoter is regulated by DNA methylation. J. Biol. Chem., 277, 4374-4379.
16. In, K.H., Silverman, E.S., Asano, K., Beier, D., Fischer, AR., Keith, T.P., Serino, K., Yandava, C., De Sanctis, G.T. and Drazen, J.M. (1999) Mutations in the human 5-lipoxygenase gene. Clin. Rev. Allergy Immunol., 17, 59-69.
17. Doris, P.A. (2002) Hypertension genetics, single nucleotide polymorphisms, and the common disease: common variant bypothesis. Hypertension, 39, 323-331.
18. Gabriel, S.B., Schaffner, S.E, Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M, et al. (2002) The structure of haplotype blocks in the human genome. Science, 296, 2225-2229.
19. Patil, N., Berno, A.J., Hinds, D.A., Barrett, W.A., Doshi, J.M., Hacker, C.R., Kautzer, C.R., Lee, D.H., Marjoribanks, C., McDonough, D.P. et al. (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science, 294, 1719-1723.
20. Rioux, J.D., Daly, M.J., Silverberg, M.S., Lindblad, K., Steinhart, H., Cohen, Z., Delmonte, T., Kocher, K., Miller, K., Guschwan, S. et al. (2001) Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat. Genet., 29, 223-228.
21. Miyagawa, T., Hohjoh, H., Honda, Y., Juji, T. and Tokunaga, K. (2000) Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy. Immunogenetics, 52, 12-18.
22. Ogura, Y., Bonen, D.K., Inohara, N., Nicolae, D.L., Chen, E.F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R.H. et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature, 411, 603-606.
23. Hugot, J.P., Chamaillard, M., Zouali, H., Lesage, S., Cezard, J.P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C.A., Gassull, M. et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature, 411, 599-603.
24. Mackness, M.I., Durrington, P.N., Ayub, A. and Mackness, B. (1999) Low serum paraoxonase: a risk factor for atherosclerotic disease? Chem. Biol. Interact., 119/120, 389-397.
25. Todd, J.A. (1999) From genome to aetiology in a multifactorial disease, type 1 diabetes. BioEssays, 21, 164-174.
26. Cox, N.J. (2001) Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene. Hum. Mol. Genet., 10, 2301-2305.
27. Sreenan, S.K., Zhou, Y.R, Otani, K., Hansen, P.A., Currie, K.P., Pan, C.Y., Lee, J.P., Ostrega, D.M., Pugh, W, Horikawa, Y. et al. (2001) Calpains play a role in insulin secretion and action. Diabetes, 50, 2013-2020.
28. Lusis, A.J., Ivandic, B. and Castellani, L.W. (2002) Lipoprotein and lipid metabolism. In Rimoin, D. L., Conner, J. M. Pyeritz, R. E. and Emery, A. E. H. (eds),Emery and Rimoin's Principles and Practice of Medical Genetics, 4th edn. Churchill Livingstone, London, pp. 2500-2537.
29. Pennacchio, L.A., Olivier, M., Hubacek, J.A., Cohen, J.C., Cox, D.R., Fruchart, J.C., Krauss, R.M. and Rubin, E.M. (2001) An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science, 294, 169-173.
30. Mackness, B., Durrington, P.N. and Mackness, M.I. (1998) Human serum paraoxonase. Gen. Pharmacol., 31, 329-336.