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Genomes and Genes | Neil J RischSummaryAffiliation: Stanford University Country: USA Publications
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Publications
The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA poolingN 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...
2004 Curt Stern Award Address. The SNP endgame: a multidisciplinary approachNeil Risch
Department of Genetics, M322, Stanford University School of Medicine, Stanford, CA 94305-5120, USA
Am J Hum Genet 76:221-6. 2005
Categorization of humans in biomedical research: genes, race and diseaseNeil 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...- A genomic screen of autism: evidence for a multilocus etiologyN 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... - The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approachesN 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... - Characterizing the admixed African ancestry of African AmericansFouad 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... - Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studiesThemistocles 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)... - Ethnicity and human genetic linkage mapsEric 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... - Global transcriptional response to interferon is a determinant of HCV treatment outcome and is modified by raceXiao Song He
Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA
Hepatology 44:352-9. 2006.... - A near null variant of 12/15-LOX encoded by a novel SNP in ALOX15 and the risk of coronary artery diseaseThemistocles 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)... 
Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery diseaseThemistocles 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...- Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CADJoshua 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... - Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE studyThemistocles 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... - Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groupsJoanna 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... - Lack of evidence for an association between WNT2 and RELN polymorphisms and autismJun 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... - Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selectionNeil Risch
Department of Genetics, Stanford University, Standford, CA 94305, USA
Am J Hum Genet 72:812-22. 2003.... - Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex diseaseDavid Botstein
Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
Nat Genet 33:228-37. 2003.... - On the twin risk in autismJoachim 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... - Recent genetic selection in the ancestral admixture of Puerto RicansHua 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... - Immunology: hepatitis A virus link to atopic diseaseJennifer J McIntire
Division of Immunology and Allergy, Department of Pediatrics, Stanford University, Stanford, California 94305-5208, USA
Nature 425:576. 2003 - Candidate-gene approaches for studying complex genetic traits: practical considerationsHolly 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... - Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradientDonna 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... - A polymorphism in the beta1 adrenergic receptor is associated with resting heart rateKoustubh 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)... - Narcolepsy is strongly associated with the T-cell receptor alpha locusJoachim Hallmayer
Center for Sleep Sciences, Stanford University School of Medicine, Palo Alto, California, USA
Nat Genet 41:708-11. 2009.... - A genome scan for hypertension susceptibility loci in populations of Chinese and Japanese originsKoustubh 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... - Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex familiesJun 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... - Tree-structured supervised learning and the genetics of hypertensionJing 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... - Dissecting complex diseases in complex populations: asthma in latino americansShweta Choudhry
Department of Medicine, University of California, San Francisco, San Francisco, CA 94143 2911, USA
Proc Am Thorac Soc 4:226-33. 2007.... - Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystoniaNeil 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... - Estimation of individual admixture: analytical and study design considerationsHua 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... - Genetic structure, self-identified race/ethnicity, and confounding in case-control association studiesHua 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... - A genome-wide scan in forty large pedigrees with multiple sclerosisCristen 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... - Ancestry-environment interactions and asthma risk among Puerto RicansShweta Choudhry
University of California, San Francisco, San Francisco, CA 94143-2911, USA
Am J Respir Crit Care Med 174:1088-93. 2006..CONCLUSIONS: The observed interaction may help to explain the unique pattern of risk for asthma in Puerto Ricans and the lack of association with SES observed in previous studies when not accounting for varying proportions of ancestry... - Future of genetics of mood disorders researchKathleen 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... - Genetic admixture and asthma-related phenotypes in Mexican American and Puerto Rican asthmaticsKeyan 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...