Neil J Risch

Summary

Affiliation: Stanford University
Country: USA

Publications

  1. ncbi request reprint The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling
    N Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
    Genome Res 8:1273-88. 1998
  2. pmc 2004 Curt Stern Award Address. The SNP endgame: a multidisciplinary approach
    Neil Risch
    Department of Genetics, M322, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Am J Hum Genet 76:221-6. 2005
  3. pmc Categorization of humans in biomedical research: genes, race and disease
    Neil Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Genome Biol 3:comment2007. 2002
  4. pmc A genomic screen of autism: evidence for a multilocus etiology
    N Risch
    Department of Genetics, M322, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Am J Hum Genet 65:493-507. 1999
  5. ncbi request reprint The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches
    N Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Cancer Epidemiol Biomarkers Prev 10:733-41. 2001
  6. pmc Characterizing the admixed African ancestry of African Americans
    Fouad Zakharia
    Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA
    Genome Biol 10:R141. 2009
  7. pmc Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies
    Themistocles L Assimes
    Department of Medicine, Stanford University School of Medicine, Stanford, California 94304 1334, USA
    J Am Coll Cardiol 56:1552-63. 2010
  8. pmc Ethnicity and human genetic linkage maps
    Eric Jorgenson
    Department of Genetics, Stanford University, Stanford, CA, USA
    Am J Hum Genet 76:276-90. 2005
  9. ncbi request reprint Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by race
    Xiao Song He
    Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Hepatology 44:352-9. 2006
  10. pmc A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease
    Themistocles L Assimes
    Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305 5406, USA
    Atherosclerosis 198:136-44. 2008

Detail Information

Publications35

  1. ncbi request reprint The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling
    N Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
    Genome Res 8:1273-88. 1998
    ..The formulas and tables we derive should provide some guidance to investigators designing nuclear family-based linkage disequilibrium studies for complex diseases...
  2. pmc 2004 Curt Stern Award Address. The SNP endgame: a multidisciplinary approach
    Neil Risch
    Department of Genetics, M322, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Am J Hum Genet 76:221-6. 2005
  3. pmc Categorization of humans in biomedical research: genes, race and disease
    Neil Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Genome Biol 3:comment2007. 2002
    ..An epidemiologic perspective on the issue of human categorization in biomedical and genetic research strongly supports the continued use of self-identified race and ethnicity...
  4. pmc A genomic screen of autism: evidence for a multilocus etiology
    N Risch
    Department of Genetics, M322, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Am J Hum Genet 65:493-507. 1999
    ..Our results suggest that positional cloning of susceptibility loci by linkage analysis may be a formidable task and that other approaches may be necessary...
  5. ncbi request reprint The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches
    N Risch
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Cancer Epidemiol Biomarkers Prev 10:733-41. 2001
    ..Suggestions are given for optimal study designs depending on the underlying architecture of genetic predisposition...
  6. pmc Characterizing the admixed African ancestry of African Americans
    Fouad Zakharia
    Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA
    Genome Biol 10:R141. 2009
    ..To focus on African ancestry, we reduced the data to include only those genotypes in each African American determined statistically to be African in origin...
  7. pmc Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies
    Themistocles L Assimes
    Department of Medicine, Stanford University School of Medicine, Stanford, California 94304 1334, USA
    J Am Coll Cardiol 56:1552-63. 2010
    ..We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD)...
  8. pmc Ethnicity and human genetic linkage maps
    Eric Jorgenson
    Department of Genetics, Stanford University, Stanford, CA, USA
    Am J Hum Genet 76:276-90. 2005
    ..The results of our investigation have implications for inferences of possible genetic influences on human recombination as well as for future linkage studies, especially those involving populations of nonwhite ethnicity...
  9. ncbi request reprint Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by race
    Xiao Song He
    Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Hepatology 44:352-9. 2006
    ....
  10. pmc A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery disease
    Themistocles L Assimes
    Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305 5406, USA
    Atherosclerosis 198:136-44. 2008
    ..We tested the hypothesis that exonic and/or promoter single nucleotide polymorphisms (SNPs) in the human 12/15-LOX gene (ALOX15) alter the risk of symptomatic coronary artery disease (CAD)...
  11. pmc Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease
    Themistocles L Assimes
    Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA
    Hum Genet 123:399-408. 2008
    ..However, additional studies are needed to exclude modest effects of promoter variation in ALOX5 on the risk of CAD assuming a recessive mode of inheritance...
  12. pmc Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD
    Joshua W Knowles
    Division of Cardiovascular Medicine, Falk Cardiovascular Research Building, Stanford University School of Medicine, Stanford, CA 94305 5406, USA
    BMC Med Genet 9:23. 2008
    ..We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically significant CAD in the Atherosclerotic Disease, VAscular FuNction, & Geneti C Epidemiology (ADVANCE) study...
  13. pmc Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
    Themistocles L Assimes
    Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305 5406, USA
    Hum Mol Genet 17:2320-8. 2008
    ..Further investigations in other populations are needed to confirm or refute our findings...
  14. ncbi request reprint Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups
    Joanna L Mountain
    Department of Anthropological Sciences, Stanford University, Stanford, California 94305 2117, USA
    Nat Genet 36:S48-53. 2004
    ..Further, we suggest approaches and guidelines for assessing the contribution of genetic factors to between-group phenotypic differences, including studies of candidate genes and analyses of recently admixed populations...
  15. ncbi request reprint Lack of evidence for an association between WNT2 and RELN polymorphisms and autism
    Jun Li
    Department of Genetics M344, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Am J Med Genet B Neuropsychiatr Genet 126:51-7. 2004
    ..Our interpretation of these findings is that it is unlikely that DNA variations in RELN and WNT2 play a significant role in the genetic predisposition to autism...
  16. pmc Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    Neil Risch
    Department of Genetics, Stanford University, Standford, CA 94305, USA
    Am J Hum Genet 72:812-22. 2003
    ....
  17. ncbi request reprint Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
    David Botstein
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
    Nat Genet 33:228-37. 2003
    ....
  18. pmc On the twin risk in autism
    Joachim Hallmayer
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, CA, 94304, USA
    Am J Hum Genet 71:941-6. 2002
    ..Our results are in agreement with those of two similar studies by Croen et al. (2002) in California and Hultman et al. (2002) in Sweden...
  19. pmc Recent genetic selection in the ancestral admixture of Puerto Ricans
    Hua Tang
    Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Am J Hum Genet 81:626-33. 2007
    ..Two of these regions harbor genes for olfactory receptors. Interestingly, all three regions exhibit deficiencies in the European-ancestry proportion...
  20. ncbi request reprint Immunology: hepatitis A virus link to atopic disease
    Jennifer J McIntire
    Division of Immunology and Allergy, Department of Pediatrics, Stanford University, Stanford, California 94305 5208, USA
    Nature 425:576. 2003
  21. ncbi request reprint Candidate-gene approaches for studying complex genetic traits: practical considerations
    Holly K Tabor
    Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305 5120, USA
    Nat Rev Genet 3:391-7. 2002
    ..We believe that these criticisms can be usefully countered with an appeal to the principles of epidemiological investigation...
  22. ncbi request reprint Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient
    Donna Spiker
    Division of Child Psychiatry and Child Development, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA
    Am J Med Genet 114:129-36. 2002
    ..Rather, the clusters could be characterized along a single, heritable, continuous severity dimension...
  23. pmc A polymorphism in the beta1 adrenergic receptor is associated with resting heart rate
    Koustubh Ranade
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Am J Hum Genet 70:935-42. 2002
    ..Neither the Arg389Gly polymorphism in the beta1 adrenergic receptor nor polymorphisms in the beta2 and beta3 adrenergic receptors were associated with resting heart rate. The heritability of heart rate was 39.7% +/- 7.1% (P<10-7)...
  24. pmc Narcolepsy is strongly associated with the T-cell receptor alpha locus
    Joachim Hallmayer
    Center for Sleep Sciences, Stanford University School of Medicine, Palo Alto, California, USA
    Nat Genet 41:708-11. 2009
    ....
  25. ncbi request reprint A genome scan for hypertension susceptibility loci in populations of Chinese and Japanese origins
    Koustubh Ranade
    Department of Genetics, Stanford University School of Medicine, Stanford, California, USA
    Am J Hypertens 16:158-62. 2003
    ..Our understanding of genes that predispose to essential hypertension is poor...
  26. ncbi request reprint Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families
    Jun Li
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
    Am J Med Genet 114:24-30. 2002
    ..None of these subsets revealed significant deviation from the null expectation. Our interpretation of these findings is that it is unlikely that HoxA1 and HoxB1 play a significant role in the genetic predisposition to autism...
  27. pmc Tree-structured supervised learning and the genetics of hypertension
    Jing Huang
    Affymetrix Inc, 3380 Central Expressway, Santa Clara, CA 95051, USA
    Proc Natl Acad Sci U S A 101:10529-34. 2004
    ..FlexTree and Logic Regression appear better than the others in terms of Bayes risk. However, the differences are not significant in the usual statistical sense...
  28. pmc Dissecting complex diseases in complex populations: asthma in latino americans
    Shweta Choudhry
    Department of Medicine, University of California, San Francisco, San Francisco, CA 94143 2911, USA
    Proc Am Thorac Soc 4:226-33. 2007
    ....
  29. pmc Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
    Neil J Risch
    Institute for Human Genetics, University of California at San Francisco, San Francisco, CA 94143, USA
    Am J Hum Genet 80:1188-93. 2007
    ..Our findings establish, for the first time, a clinically relevant gene modifier of DYT1...
  30. ncbi request reprint Estimation of individual admixture: analytical and study design considerations
    Hua Tang
    Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
    Genet Epidemiol 28:289-301. 2005
    ..g., simulations) not possible by Bayesian methods. Our simulation results demonstrate that inclusion of ancestral populations or their surrogates in the analysis is required by any method of IA estimation to obtain reasonable results...
  31. pmc Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies
    Hua Tang
    Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
    Am J Hum Genet 76:268-75. 2005
    ..S. population. Implications of this genetic structure for case-control association studies are discussed...
  32. ncbi request reprint A genome-wide scan in forty large pedigrees with multiple sclerosis
    Cristen J Willer
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    J Hum Genet 52:955-62. 2007
    ..30. The inability to find significant linkage in these highly penetrant families suggests that linkage is not the optimal tool for dissecting the inheritance of MS...
  33. pmc Ancestry-environment interactions and asthma risk among Puerto Ricans
    Shweta Choudhry
    University of California, San Francisco, San Francisco, CA 94143 2911, USA
    Am J Respir Crit Care Med 174:1088-93. 2006
    ..We hypothesized that, in this admixed population, the association between SES and asthma may interact with genetic ancestry...
  34. ncbi request reprint Future of genetics of mood disorders research
    Kathleen R Merikangas
    National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Biol Psychiatry 52:457-77. 2002
    ..To prepare for shifts to more complex genetic models, the committee recommended that the NIMH develop new interdisciplinary training strategies to prepare for the next generation of genetics research...
  35. ncbi request reprint Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmatics
    Keyan Salari
    Department of Medicine, University of California, San Francisco, California 94143 1732, USA
    Genet Epidemiol 29:76-86. 2005
    ..These results suggest that asthma severity may be influenced by genetic factors differentiating Europeans and Native Americans in Mexican Americans, although differing results for Puerto Ricans require further investigation...