Genome-wide SNP association: Identification of susceptibility alleles for osteoarthritis

Autoimmunity Reviews

Volumn 5, Issue 4, 2006, Pages 258-263

  Abel, Kenneth ^a   Reneland, Rikard ^a   Kammerer, Stefan ^a   Mah, Steven ^a   Hoyal, Carolyn ^a   Cantor, Charles R ^a   Nelson, Matthew R ^a   Braun, Andreas ^a  

^a SEQUENOM INC   (United States)

Author keywords

Disease susceptibility; DNA pooling; Genome wide association; Mass spectrometry; SNP

Indexed keywords

BIOLOGICAL MARKER; DNA;

ACCURACY; ALLELE; COST; DISEASE PREDISPOSITION; DNA REPLICATION; FILTRATION; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENOME; GENOTYPE; HUMAN; MASS SPECTROMETRY; NUCLEIC ACID ANALYSIS; OSTEOARTHRITIS; REVIEW; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

ALLELES; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; OSTEOARTHRITIS, KNEE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 33646504088     PISSN: 15689972     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.autrev.2005.07.005     Document Type: Review

References (21)

1. Risch N.J. Searching for genetic determinants in the new millennium. Nature 405 (2000) 847-856
2. Goldstein D.B., Ahmadi K.R., Weale M.E., and Wood N.W. Genome scans and candidate gene approaches in the study of common diseases and variable drug responses. Trends Genet 19 (2003) 615-622
3. Little D.P., Braun A., Darnhofer-Demar B., and Koster H. Identification of apolipoprotein E polymorphisms using temperature cycled primer oligo base extension and mass spectrometry. Eur J Clin Chem Clin Biochem 35 (1997) 545-548
4. Sabeti P.C., Reich D.E., Higgins J.M., Levine H.Z., Richter D.J., Schaffner S.F., et al. Detecting recent positive selection in the human genome from haplotype structure. Nature 419 (2002) 832-837
5. Carlson C.S., Eberle M.A., Rieder M.J., Smith J.D., Kruglyak L., and Nickerson D.A. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet 33 (2003) 518-521
6. Reich D.E., Gabriel S.B., and Altshuler D. Quality and completeness of SNP databases. Nat Genet 33 (2003) 457-458
7. Shaw S.H., Carrasquillo M.M., Kashuk C., Puffenberger E.G., and Chakravarti A. Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes. Genome Res 8 (1998) 111-123
8. Mohlke K.L., Erdos M.R., Scott L.J., Fingerlin T.E., Jackson A.U., Silander K., et al. High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. Proc Natl Acad Sci U S A 99 (2002) 16928-16933
9. Kammerer S., Roth R.B., Reneland R., Marnellos G., Hoyal C.R., Markward N.J., et al. Large-scale association study identifies ICAM gene region as breast and prostate cancer susceptibility locus. Cancer Res 64 (2004) 8906-8910
10. Kammerer S., Roth R.B., Hoyal C.R., Reneland R., Marnellos G., Kiechle M., et al. Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility. Proc Natl Acad Sci U S A 102 (2005) 2004-2009
11. Bansal A., van den Boom D., Kammerer S., Honisch C., Adam G., Cantor C.R., et al. Association testing by DNA pooling: an effective initial screen. Proc Natl Acad Sci U S A 99 (2002) 16871-16874
12. Corbex M., Poirier O., Fumeron F., Betoulle D., Evans A., Ruidavets J.B., et al. Extensive association analysis between the CETP gene and coronary heart disease phenotypes reveals several putative functional polymorphisms and gene-environment interaction. Genet Epidemiol 19 (2000) 64-80
13. The International HapMap Consortium. The International HapMap Project. Nature 426 (2003) 789-796
14. Dausset J., Cann H., Cohen D., Lathrop M., Lalouel J.M., and White R. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome. Genomics 6 (1990) 575-577
15. Nelson M.R., Marnellos G., Kammerer S., Hoyal C.R., Shi M.M., Cantor C.R., et al. Large-scale validation of single nucleotide polymorphisms in gene regions. Genome Res 14 (2004) 1664-1668
16. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (2004) [Epub ahead of print, PubMed ID: 15297300]
17. International Human Genome Sequencing Consortium. Finishing the euchromatic sequence of the human genome. Nature 431 (2004) 931-945
18. Spector T.D., Cicuttini F., Baker J., Loughlin J., and Hart D. Genetic influences on osteoarthritis in women: a twin study. BMJ 312 (1996) 940-943
19. Andrew T., Hart D.J., Snieder H., de Lange M., Spector T.D., and MacGregor A.J. Are twins and singletons comparable? A study of disease-related and lifestyle characteristics in adult women. Twin Res 4 (2001) 464-477
20. Neame R.L., Muir K., Doherty S., and Doherty M. Genetic risk of knee osteoarthritis: a sibling study. Ann Rheum Dis 63 (2004) 1022-1027
21. Hirschhorn J.N., Lohmueller K., Byrne E., and Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 4 (2002) 45-61