Candidate-gene approaches for studying complex genetic traits: practical considerations

[1]  N. Risch Searching for genetic determinants in the new millennium , 2000, Nature.

[2]  International Human Genome Sequencing Consortium Initial sequencing and analysis of the human genome , 2001, Nature.

[3]  Judy H. Cho,et al.  A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease , 2001, Nature.

[4]  L. Kruglyak,et al.  Patterns of linkage disequilibrium in the human genome , 2002, Nature Reviews Genetics.

[5]  M. Daly,et al.  A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.

[6]  John D. Potter,et al.  At the interfaces of epidemiology, genetics and genomics , 2001, Nature Reviews Genetics.

[7]  E. Boerwinkle,et al.  Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. , 2000, Genome research.

[8]  D. Lockhart,et al.  Analysis of gene expression profiles in normal and neoplastic ovarian tissue samples identifies candidate molecular markers of epithelial ovarian cancer. , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[9]  H. Zoghbi,et al.  Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. , 2000, American journal of human genetics.

[10]  S. P. Fodor,et al.  Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21 , 2001, Science.

[11]  Jane A. Cauley,et al.  Vitamin D receptor gene polymorphisms and the risk of fractures in older women , 1999 .

[12]  J. Buring,et al.  Epidemiology in Medicine , 1987 .

[13]  R S Judson,et al.  Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[14]  S T Sherry,et al.  Use of molecular variation in the NCBI dbSNP database , 2000, Human mutation.

[15]  J. Ioannidis,et al.  Replication validity of genetic association studies , 2001, Nature Genetics.

[16]  M. Cargill Characterization of single-nucleotide polymorphisms in coding regions of human genes , 1999, Nature Genetics.

[17]  K Fukutake,et al.  Polymorphism in RANTES chemokine promoter affects HIV-1 disease progression. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[18]  R H Myers,et al.  Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. , 1998, Circulation.

[19]  P. Sham,et al.  Model-Free Analysis and Permutation Tests for Allelic Associations , 1999, Human Heredity.

[20]  N. Shen,et al.  Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis , 1999, Nature Genetics.

[21]  F. Couch,et al.  Mutations and Polymorphisms in the familial early‐onset breast cancer (BRCA1) gene , 1996, Human mutation.

[22]  D. Nickerson,et al.  Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. , 1996, Genomics.

[23]  Christian A. Rees,et al.  Molecular portraits of human breast tumours , 2000, Nature.

[24]  S. Cummings,et al.  Designing Clinical Research: An Epidemiologic Approach , 1988 .

[25]  D. Mccormick Sequence the Human Genome , 1986, Bio/Technology.

[26]  C. Duijn,et al.  Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. , 2000, Human molecular genetics.

[27]  Warren C. Lathe,et al.  Prediction of deleterious human alleles. , 2001, Human molecular genetics.

[28]  D. Chasman,et al.  Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. , 2001, Journal of molecular biology.

[29]  R. Lewontin,et al.  On measures of gametic disequilibrium. , 1988, Genetics.

[30]  A. Long,et al.  The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits. , 1999, Genome research.

[31]  Mourad Sahbatou,et al.  Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease , 2001, Nature.

[32]  S. Henikoff,et al.  Accounting for human polymorphisms predicted to affect protein function. , 2002, Genome research.

[33]  A. Syvänen Accessing genetic variation: genotyping single nucleotide polymorphisms , 2001, Nature Reviews Genetics.

[34]  J. Lalouel,et al.  Power and replication in case-control studies. , 2002, American journal of hypertension.

[35]  L. Cardon,et al.  Association study designs for complex diseases , 2001, Nature Reviews Genetics.

[36]  P. Kwok,et al.  Overlapping genomic sequences: a treasure trove of single-nucleotide polymorphisms. , 1998, Genome research.

[37]  T. Beaty,et al.  Fundamentals of Genetic Epidemiology , 1993 .

[38]  R. Myers,et al.  Fine structure genetic analysis of a beta-globin promoter. , 1986, Science.

[39]  J. Long,et al.  An E-M algorithm and testing strategy for multiple-locus haplotypes. , 1995, American journal of human genetics.

[40]  Yan P. Yuan,et al.  HGBASE: a database of SNPs and other variations in and around human genes , 2000, Nucleic Acids Res..

[41]  W. Cookson,et al.  Genomic approaches to understanding asthma. , 2000, Genome research.

[42]  A S Whittemore,et al.  Power of association and linkage tests when the disease alleles are unobserved. , 1999, American journal of human genetics.

[43]  G. Dahlberg,et al.  Genetics of human populations. , 1948, Advances in genetics.

[44]  R Kreutz,et al.  A prospective evaluation of an angiotensin-converting-enzyme gene polymorphism and the risk of ischemic heart disease. , 1995, The New England journal of medicine.

[45]  A. Krainer,et al.  Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.

[46]  Pui-Yan Kwok,et al.  Genetic Association by Whole-Genome Analysis? , 2001, Science.

[47]  J. Stephens,et al.  Haplotype Variation and Linkage Disequilibrium in 313 Human Genes , 2001, Science.

[48]  D. Cooper,et al.  Human Gene Mutation Database , 1996, Human Genetics.

[49]  E. Noble,et al.  The D2 dopamine receptor gene: a review of association studies in alcoholism and phenotypes. , 1998, Alcohol.

[50]  J. Witte,et al.  Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. , 2000, American journal of human genetics.

[51]  R. Grantham Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.

[52]  A. Clark,et al.  Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. , 2001, American journal of human genetics.

[53]  N Risch,et al.  The Future of Genetic Studies of Complex Human Diseases , 1996, Science.

[54]  Gabor T. Marth,et al.  A general approach to single-nucleotide polymorphism discovery , 1999, Nature Genetics.

[55]  Pui-Yan Kwok,et al.  Single-nucleotide polymorphisms in the public domain: how useful are they? , 2001, Nature Genetics.

[56]  M. Daly,et al.  Guilt by association , 2000, Nature Genetics.

[57]  Donna R. Maglott,et al.  RefSeq and LocusLink: NCBI gene-centered resources , 2001, Nucleic Acids Res..

[58]  S. Cummings,et al.  Vitamin D receptor gene polymorphisms and the risk of fractures in older women. For the Study of Osteoporotic Fractures Research Group. , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[59]  D. Botstein,et al.  A gene expression database for the molecular pharmacology of cancer , 2000, Nature Genetics.