Failure to replicate an association of SNPs in the oxidized LDL receptor gene (OLR1) with CAD (2008)
Knowles, Joshua W, Assimes, Themistocles L, Boerwinkle, Eric, Fortmann, Stephen P, Go, Alan, Grove, Megan L, ...
Abstract Background The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1 ) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with...
Ethnicity and Human Genetic Linkage Maps (2005)
Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...
Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...
Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups (2004)
Mountain, Joanna L, Risch, Neil
Descriptions of human genetic variation given thirty years ago have held up well, considering the substantial accrual of DNA sequence data in the interim. Most importantly, estimates of between-group...
Ranade, Koustubh, Hinds, David, Hsiung, Chao Agnes, Chuang, Lee-Ming, Chang, Mau-Song, Chen, Ying-Tsung, ...
Background: Our understanding of genes that predispose to essential hypertension is poor. Methods: A genome-wide scan for linkage at ~10 cM resolution was done on 1425 sibpairs of Chinese and...
Categorization of humans in biomedical research: genes, race and disease (2002)
Risch, Neil, Burchard, Esteban, Ziv, Elad, Tang, Hua
Abstract A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. Some claim 'no biological basis for race' while others advocate a 'race-neutral'...
Categorization of humans in biomedical research: genes, race and disease (2002)
Risch, Neil, Burchard, Esteban, Ziv, Elad, Tang, Hua
A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. Some claim ‘no biological basis for race’ while others advocate a ‘race-neutral’...
Hauser, Elizabeth R., Boehnke, Michael, Guo, Sun-Wei, Risch, Neil
We describe an extension of Risch's [(1990a,b) Am J Hum Genet 46:222–228, 229–241] method of linkage detection and exclusion for complex genetic traits. The method uses interval mapping to infer...
Genetic variation in aldosterone synthase predicts plasma glucose levels
Ranade, Koustubh, Wu, Kwan Dun, Risch, Neil, Olivier, Michael, Pei, Dee, Hsiao, Chin-Fu, ...
The mineralocorticoid hormone, aldosterone, is known to play a role in sodium homeostasis. We serendipitously found, however, highly significant association between single-nucleotide polymorphisms in...
Categorization of humans in biomedical research: genes, race and disease
Risch, Neil, Burchard, Esteban, Ziv, Elad, Tang, Hua
A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. An epidemiologic perspective on the issue of human categorization in biomedical and genetic...
Leabman, Maya K., Huang, Conrad C., DeYoung, Joseph, Carlson, Elaine J., Taylor, Travis R., De La Cruz, Melanie, ...
Membrane transporters maintain cellular and organismal homeostasis by importing nutrients and exporting toxic compounds. Transporters also play a crucial role in drug response, serving as drug...
High-Throughput Genotyping with Single Nucleotide Polymorphisms
Ranade, Koustubh, Chang, Mau-Song, Ting, Chih-Tai, Pei, Dee, Hsiao, Chin-Fu, Olivier, Michael, ...
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the...
Bayesian Analysis of Haplotypes for Linkage Disequilibrium Mapping
Liu, Jun S., Sabatti, Chiara, Teng, Jun, Keats, Bronya J.B., Risch, Neil
Haplotype analysis of disease chromosomes can help identify probable historical recombination events and localize disease mutations. Most available analyses use only marginal and pairwise allele...
Evidence of Linkage with HLA-DR in DRB1*15-Negative Families with Multiple Sclerosis
Ligers, Arturs, Dyment, David A., Willer, Cristen J., Sadovnick, A. Dessa, Ebers, George, Risch, Neil, ...
The importance of the HLA-DR locus to multiple sclerosis (MS) susceptibility was assessed in 542 sib pairs with MS and in their families. By genotyping 1,978 individuals for HLA-DRB1 alleles, we...
Complex HLA-DR and -DQ Interactions Confer Risk of Narcolepsy-Cataplexy in Three Ethnic Groups
Mignot, Emmanuel, Lin, Ling, Rogers, William, Honda, Yutaka, Qiu, Xiaohong, Lin, Xiaoyan, ...
Human narcolepsy-cataplexy, a sleep disorder associated with a centrally mediated hypocretin (orexin) deficiency, is tightly associated with HLA-DQB1*0602. Few studies have investigated the influence...
Familial Aggregation of Absolute Pitch
Baharloo, Siamak, Service, Susan K., Risch, Neil, Gitschier, Jane, Freimer, Nelson B.
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and...
Functional genomics of membrane transporters in human populations
Urban, Thomas J., Sebro, Ronnie, Hurowitz, Evan H., Leabman, Maya K., Badagnani, Ilaria, Lagpacan, Leah L., ...
Although considerable progress has been made toward characterizing human DNA sequence variation, there remains a deficiency in information on human phenotypic variation at the single-gene level. We...
Homozygosity and linkage disequilibrium.
We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
Genetic variation in aldosterone synthase predicts plasma glucose levels
Ranade, Koustubh, Wu, Kwan Dun, Risch, Neil, Olivier, Michael, Pei, Dee, Hsiao, Chin-Fu, ...
The mineralocorticoid hormone, aldosterone, is known to play a role in sodium homeostasis. We serendipitously found, however, highly significant association between single-nucleotide polymorphisms in...
Categorization of humans in biomedical research: genes, race and disease
Risch, Neil, Burchard, Esteban, Ziv, Elad, Tang, Hua
A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. An epidemiologic perspective on the issue of human categorization in biomedical and genetic...
Leabman, Maya K., Huang, Conrad C., DeYoung, Joseph, Carlson, Elaine J., Taylor, Travis R., De La Cruz, Melanie, ...
Membrane transporters maintain cellular and organismal homeostasis by importing nutrients and exporting toxic compounds. Transporters also play a crucial role in drug response, serving as drug...
High-Throughput Genotyping with Single Nucleotide Polymorphisms
Ranade, Koustubh, Chang, Mau-Song, Ting, Chih-Tai, Pei, Dee, Hsiao, Chin-Fu, Olivier, Michael, ...
To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the...
Bayesian Analysis of Haplotypes for Linkage Disequilibrium Mapping
Liu, Jun S., Sabatti, Chiara, Teng, Jun, Keats, Bronya J.B., Risch, Neil
Haplotype analysis of disease chromosomes can help identify probable historical recombination events and localize disease mutations. Most available analyses use only marginal and pairwise allele...
Hallmayer, Joachim, Glasson, Emma J., Bower, Carol, Petterson, Beverly, Croen, Lisa, Grether, Judith, ...
Autism is considered by many to be the most strongly genetically influenced multifactorial childhood psychiatric disorder. In the absence of any known gene or genes, the main support for this is...
A Highly Significant Association between a COMT Haplotype and Schizophrenia
Shifman, Sagiv, Bronstein, Michal, Sternfeld, Meira, Pisanté-Shalom, Anne, Lev-Lehman, Efrat, Weizman, Avraham, ...
Several lines of evidence have placed the catechol-O-methyltransferase (COMT) gene in the limelight as a candidate gene for schizophrenia. One of these is its biochemical function in metabolism of...
A Polymorphism in the β1 Adrenergic Receptor Is Associated with Resting Heart Rate
Ranade, Koustubh, Jorgenson, Eric, Sheu, Wayne H.-H., Pei, Dee, Hsiung, Chao Agnes, Chiang, Fu-tien, ...
Resting heart rate is significantly associated with cardiovascular morbidity and mortality. However, the extent to which resting heart rate is genetically determined is poorly understood, and no...
Risch, Neil, Tang, Hua, Katzenstein, Howard, Ekstein, Josef
The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the...
Tukel, Turgut, Shalata, Adel, Present, Daniel, Rachmilewitz, Daniel, Mayer, Lloyd, Grant, Deniera, ...
Crohn disease (CD), an inflammatory bowel disease, is a multifactorial trait with the highest frequency in Ashkenazi Jewish (AJ) individuals of Central European origin. Recently, three common...
Ethnicity and Human Genetic Linkage Maps
Jorgenson, Eric, Tang, Hua, Gadde, Maya, Province, Mike, Leppert, Mark, Kardia, Sharon, ...
Human genetic linkage maps are based on rates of recombination across the genome. These rates in humans vary by the sex of the parent from whom alleles are inherited, by chromosomal position, and by...
Evidence of Linkage with HLA-DR in DRB1*15-Negative Families with Multiple Sclerosis
Ligers, Arturs, Dyment, David A., Willer, Cristen J., Sadovnick, A. Dessa, Ebers, George, Risch, Neil, ...
The importance of the HLA-DR locus to multiple sclerosis (MS) susceptibility was assessed in 542 sib pairs with MS and in their families. By genotyping 1,978 individuals for HLA-DRB1 alleles, we...
Complex HLA-DR and -DQ Interactions Confer Risk of Narcolepsy-Cataplexy in Three Ethnic Groups
Mignot, Emmanuel, Lin, Ling, Rogers, William, Honda, Yutaka, Qiu, Xiaohong, Lin, Xiaoyan, ...
Human narcolepsy-cataplexy, a sleep disorder associated with a centrally mediated hypocretin (orexin) deficiency, is tightly associated with HLA-DQB1*0602. Few studies have investigated the influence...
Familial Aggregation of Absolute Pitch
Baharloo, Siamak, Service, Susan K., Risch, Neil, Gitschier, Jane, Freimer, Nelson B.
Absolute pitch (AP) is a behavioral trait that is defined as the ability to identify the pitch of tones in the absence of a reference pitch. AP is an ideal phenotype for investigation of gene and...
Functional genomics of membrane transporters in human populations
Urban, Thomas J., Sebro, Ronnie, Hurowitz, Evan H., Leabman, Maya K., Badagnani, Ilaria, Lagpacan, Leah L., ...
Although considerable progress has been made toward characterizing human DNA sequence variation, there remains a deficiency in information on human phenotypic variation at the single-gene level. We...
Homozygosity and linkage disequilibrium.
We illustrate how homozygosity of haplotypes can be used to measure the level of disequilibrium between two or more markers. An excess of either homozygosity or heterozygosity signals a departure...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
Reconstructing Genetic Ancestry Blocks in Admixed Individuals
Tang, Hua, Coram, Marc, Wang, Pei, Zhu, Xiaofeng, Risch, Neil
A chromosome in an individual of recently admixed ancestry resembles a mosaic of chromosomal segments, or ancestry blocks, each derived from a particular ancestral population. We consider the problem...
González Burchard, Esteban, Borrell, Luisa N., Choudhry, Shweta, Naqvi, Mariam, Tsai, Hui-Ju, Rodriguez-Santana, Jose R., ...
Latinos are the largest minority population in the United States. Although usually classified as a single ethnic group by researchers, Latinos are heterogeneous from cultural, socioeconomic, and...