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  • 1
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    Adapt-Mix: learning local genetic correlation structure improves summary statistics-based analyses (2015)
    Oxford University Press
    Details
    Publication Date: 2015-06-14
    Description: Motivation: Approaches to identifying new risk loci, training risk prediction models, imputing untyped variants and fine-mapping causal variants from summary statistics of genome-wide association studies are playing an increasingly important role in the human genetics community. Current summary statistics-based methods rely on global ‘best guess’ reference panels to model the genetic correlation structure of the dataset being studied. This approach, especially in admixed populations, has the potential to produce misleading results, ignores variation in local structure and is not feasible when appropriate reference panels are missing or small. Here, we develop a method, Adapt-Mix, that combines information across all available reference panels to produce estimates of local genetic correlation structure for summary statistics-based methods in arbitrary populations. Results: We applied Adapt-Mix to estimate the genetic correlation structure of both admixed and non-admixed individuals using simulated and real data. We evaluated our method by measuring the performance of two summary statistics-based methods: imputation and joint-testing. When using our method as opposed to the current standard of ‘best guess’ reference panels, we observed a 28% decrease in mean-squared error for imputation and a 73.7% decrease in mean-squared error for joint-testing. Availability and implementation: Our method is publicly available in a software package called ADAPT-Mix available at https://github.com/dpark27/adapt_mix . Contact: noah.zaitlen@ucsf.edu
    Print ISSN: 1367-4803
    Electronic ISSN: 1460-2059
    Topics: Biology , Computer Science , Medicine
    Published by Oxford University Press
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  • 2
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    Melanesian blond hair is caused by an amino acid change in TYRP1 (2012)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2012-05-05
    Description: Naturally blond hair is rare in humans and found almost exclusively in Europe and Oceania. Here, we identify an arginine-to-cysteine change at a highly conserved residue in tyrosinase-related protein 1 (TYRP1) as a major determinant of blond hair in Solomon Islanders. This missense mutation is predicted to affect catalytic activity of TYRP1 and causes blond hair through a recessive mode of inheritance. The mutation is at a frequency of 26% in the Solomon Islands, is absent outside of Oceania, represents a strong common genetic effect on a complex human phenotype, and highlights the importance of examining genetic associations worldwide.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481182/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3481182/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kenny, Eimear E -- Timpson, Nicholas J -- Sikora, Martin -- Yee, Muh-Ching -- Moreno-Estrada, Andres -- Eng, Celeste -- Huntsman, Scott -- Burchard, Esteban Gonzalez -- Stoneking, Mark -- Bustamante, Carlos D -- Myles, Sean -- G0600705/Medical Research Council/United Kingdom -- R01 ES015794/ES/NIEHS NIH HHS/ -- R01 HL078885/HL/NHLBI NIH HHS/ -- R01 HL088133/HL/NHLBI NIH HHS/ -- RD1634/Medical Research Council/United Kingdom -- U19 AI077439/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 2012 May 4;336(6081):554. doi: 10.1126/science.1217849.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Stanford University, Stanford, CA 94305, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22556244" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Substitution ; Gene Frequency ; Genes, Recessive ; Genome-Wide Association Study ; Genotype ; Hair Color/*genetics ; Humans ; Melanesia ; Membrane Glycoproteins/*genetics/metabolism ; *Mutation, Missense ; Oxidoreductases/*genetics/metabolism ; Polymorphism, Single Nucleotide
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Genomics for the world (2011)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2011-07-15
    Description: 〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708540/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708540/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Bustamante, Carlos D -- Burchard, Esteban Gonzalez -- De la Vega, Francisco M -- R01 ES015794/ES/NIEHS NIH HHS/ -- R01 HG003229/HG/NHGRI NIH HHS/ -- T32 GM007546/GM/NIGMS NIH HHS/ -- U01 HG005715/HG/NHGRI NIH HHS/ -- England -- Nature. 2011 Jul 13;475(7355):163-5. doi: 10.1038/475163a.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. cdbustam@stanford.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21753830" target="_blank"〉PubMed〈/a〉
    Keywords: Emigrants and Immigrants/statistics & numerical data ; Europe/ethnology ; European Continental Ancestry Group/genetics ; Genetic Variation/genetics ; Genetics, Medical/*statistics & numerical data/*trends ; Genome, Human/*genetics ; Genome-Wide Association Study ; Genomics/*statistics & numerical data/*trends ; Humans ; Minority Groups/*statistics & numerical data
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 4
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    Medical research: Missing patients (2014)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2014-09-19
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Burchard, Esteban G -- England -- Nature. 2014 Sep 18;513(7518):301-2. doi: 10.1038/513301a.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉University of California, San Francisco, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25230631" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; African Americans/genetics/statistics & numerical data ; Asthma/mortality ; *Biomedical Research/manpower/methods ; Clinical Trials as Topic/ethics/standards ; Continental Population Groups/genetics/statistics & numerical data ; Gene-Environment Interaction ; Humans ; Male ; Minority Groups/statistics & numerical data ; *Patient Selection/ethics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
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  • 5
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    Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits (2014)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2014-06-14
    Description: Mexico harbors great cultural and ethnic diversity, yet fine-scale patterns of human genome-wide variation from this region remain largely uncharacterized. We studied genomic variation within Mexico from over 1000 individuals representing 20 indigenous and 11 mestizo populations. We found striking genetic stratification among indigenous populations within Mexico at varying degrees of geographic isolation. Some groups were as differentiated as Europeans are from East Asians. Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country. Furthermore, two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function. Thus, accounting for fine-scale ancestry patterns is critical for medical and population genetic studies within Mexico, in Mexican-descent populations, and likely in many other populations worldwide.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156478/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4156478/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Moreno-Estrada, Andres -- Gignoux, Christopher R -- Fernandez-Lopez, Juan Carlos -- Zakharia, Fouad -- Sikora, Martin -- Contreras, Alejandra V -- Acuna-Alonzo, Victor -- Sandoval, Karla -- Eng, Celeste -- Romero-Hidalgo, Sandra -- Ortiz-Tello, Patricia -- Robles, Victoria -- Kenny, Eimear E -- Nuno-Arana, Ismael -- Barquera-Lozano, Rodrigo -- Macin-Perez, Gaston -- Granados-Arriola, Julio -- Huntsman, Scott -- Galanter, Joshua M -- Via, Marc -- Ford, Jean G -- Chapela, Rocio -- Rodriguez-Cintron, William -- Rodriguez-Santana, Jose R -- Romieu, Isabelle -- Sienra-Monge, Juan Jose -- del Rio Navarro, Blanca -- London, Stephanie J -- Ruiz-Linares, Andres -- Garcia-Herrera, Rodrigo -- Estrada, Karol -- Hidalgo-Miranda, Alfredo -- Jimenez-Sanchez, Gerardo -- Carnevale, Alessandra -- Soberon, Xavier -- Canizales-Quinteros, Samuel -- Rangel-Villalobos, Hector -- Silva-Zolezzi, Irma -- Burchard, Esteban Gonzalez -- Bustamante, Carlos D -- BB/I021213/1/Biotechnology and Biological Sciences Research Council/United Kingdom -- ES015794/ES/NIEHS NIH HHS/ -- GM007546/GM/NIGMS NIH HHS/ -- GM061390/GM/NIGMS NIH HHS/ -- HL004464/HL/NHLBI NIH HHS/ -- HL078885/HL/NHLBI NIH HHS/ -- HL088133/HL/NHLBI NIH HHS/ -- HL111636/HL/NHLBI NIH HHS/ -- K23 HL004464/HL/NHLBI NIH HHS/ -- K23 HL111636/HL/NHLBI NIH HHS/ -- M01 RR000083/RR/NCRR NIH HHS/ -- P60 MD006902/MD/NIMHD NIH HHS/ -- P60MD006902/MD/NIMHD NIH HHS/ -- R01 ES015794/ES/NIEHS NIH HHS/ -- R01 GM083606/GM/NIGMS NIH HHS/ -- R01 GM090087/GM/NIGMS NIH HHS/ -- R01 HG003229/HG/NHGRI NIH HHS/ -- R01 HL078885/HL/NHLBI NIH HHS/ -- R01 HL088133/HL/NHLBI NIH HHS/ -- R01GM090087/GM/NIGMS NIH HHS/ -- R01HG003229/HG/NHGRI NIH HHS/ -- R13 MD008154/MD/NIMHD NIH HHS/ -- RR000083/RR/NCRR NIH HHS/ -- T32 GM007175/GM/NIGMS NIH HHS/ -- T32 GM007546/GM/NIGMS NIH HHS/ -- T32 HG000044/HG/NHGRI NIH HHS/ -- T32GM007175/GM/NIGMS NIH HHS/ -- T32HG000044/HG/NHGRI NIH HHS/ -- U01 GM061390/GM/NIGMS NIH HHS/ -- ZIA ES049019-14/Intramural NIH HHS/ -- ZIA ES049019-15/Intramural NIH HHS/ -- ZIA ES49019/ES/NIEHS NIH HHS/ -- New York, N.Y. -- Science. 2014 Jun 13;344(6189):1280-5. doi: 10.1126/science.1251688. Epub 2014 Jun 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. cdbustam@stanford.edu morenoe@stanford.edu esteban.burchard@ucsf.edu. ; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA. cdbustam@stanford.edu morenoe@stanford.edu esteban.burchard@ucsf.edu. ; Instituto Nacional de Medicina Genomica (INMEGEN), Mexico City, Mexico. ; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. ; Escuela Nacional de Antropologia e Historia (ENAH), Mexico City, Mexico. Department of Genetics, Evolution and Environment, University College London, London, UK. ; Department of Medicine, University of California, San Francisco, CA, USA. ; Instituto de Investigacion en Genetica Molecular, Universidad de Guadalajara, Ocotlan, Mexico. ; Escuela Nacional de Antropologia e Historia (ENAH), Mexico City, Mexico. ; Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico. ; Department of Medicine, University of California, San Francisco, CA, USA. Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA. ; The Brooklyn Hospital Center, Brooklyn, NY, USA. ; Instituto Nacional de Enfermedades Respiratorias (INER), Mexico City, Mexico. ; Veterans Caribbean Health Care System, San Juan, Puerto Rico. ; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA. Instituto Nacional de Medicina Genomica (INMEGEN), Mexico City, Mexico. ; International Agency for Research on Cancer, Lyon, France. ; Hospital Infantil de Mexico Federico Gomez, Mexico City, Mexico. ; National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, NC, USA. ; Department of Genetics, Evolution and Environment, University College London, London, UK. ; Instituto Nacional de Medicina Genomica (INMEGEN), Mexico City, Mexico. Facultad de Quimica, Universidad Nacional Autonoma de Mexico, Mexico City, Mexico. ; Department of Medicine, University of California, San Francisco, CA, USA. Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA. cdbustam@stanford.edu morenoe@stanford.edu esteban.burchard@ucsf.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24926019" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/genetics ; European Continental Ancestry Group/genetics ; *Genetic Variation ; Genome, Human ; Humans ; Indians, North American/*genetics ; Mexican Americans/*genetics ; Mexico ; Population/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 6
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    The TAM family receptor tyrosine kinase TYRO3 is a negative regulator of type 2 immunity (2016)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2016-04-02
    Description: Host responses against metazoan parasites or an array of environmental substances elicit type 2 immunity. Despite its protective function, type 2 immunity also drives allergic diseases. The mechanisms that regulate the magnitude of the type 2 response remain largely unknown. Here, we show that genetic ablation of a receptor tyrosine kinase encoded byTyro3in mice or the functional neutralization of its ortholog in human dendritic cells resulted in enhanced type 2 immunity. Furthermore, the TYRO3 agonist PROS1 was induced in T cells by the quintessential type 2 cytokine, interleukin-4. T cell-specificPros1knockouts phenocopied the loss ofTyro3 Thus, a PROS1-mediated feedback from adaptive immunity engages a rheostat, TYRO3, on innate immune cells to limit the intensity of type 2 responses.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chan, Pamela Y -- Carrera Silva, Eugenio A -- De Kouchkovsky, Dimitri -- Joannas, Leonel D -- Hao, Liming -- Hu, Donglei -- Huntsman, Scott -- Eng, Celeste -- Licona-Limon, Paula -- Weinstein, Jason S -- Herbert, De'Broski R -- Craft, Joseph E -- Flavell, Richard A -- Repetto, Silvia -- Correale, Jorge -- Burchard, Esteban G -- Torgerson, Dara G -- Ghosh, Sourav -- Rothlin, Carla V -- HL004464/HL/NHLBI NIH HHS/ -- HL078885/HL/NHLBI NIH HHS/ -- HL088133/HL/NHLBI NIH HHS/ -- HL104608/HL/NHLBI NIH HHS/ -- HL117004/HL/NHLBI NIH HHS/ -- MD006902/MD/NIMHD NIH HHS/ -- R01 AI089824/AI/NIAID NIH HHS/ -- T32 AI007019/AI/NIAID NIH HHS/ -- T32 GM007205/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2016 Apr 1;352(6281):99-103. doi: 10.1126/science.aaf1358.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA. ; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA. Laboratorio de Trombosis Experimental, Instituto de Medicina Experimental, Academia Nacional de Medicina-CONICET, Buenos Aires, 1425, Argentina. ; Department of Pathology, School of Medicine, Yale University, New Haven, CT 06520, USA. ; Department of Medicine, University of California San Francisco, CA 94158, USA. ; Department of Experimental Medicine, University of California San Francisco, CA 94158, USA. ; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA. Department of Internal Medicine (Rheumatology), School of Medicine, Yale University, New Haven, CT 06520, USA. ; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA. Howard Hughes Medical Institute, School of Medicine, Yale University, New Haven, CT 06520, USA. ; Instituto de Investigaciones en Microbiologia y Parasitologia Medica, University of Buenos Aires-CONICET, Buenos Aires, 1121, Argentina. Hospital de Clinicas Jose de San Martin, University of Buenos Aires, 1120, Argentina. ; Center for Research on Neuroimmunological Diseases, Raul Carrea Institute for Neurological Research (FLENI), Buenos Aires 1428, Argentina. ; Department of Medicine, University of California San Francisco, CA 94158, USA. Department of Bioengineering, School of Pharmacy, University of California San Francisco, CA 94158, USA. ; Department of Neurology, School of Medicine, Yale University, New Haven, CT 06520, USA. ; Department of Immunobiology, School of Medicine, Yale University, New Haven, CT 06520, USA. carla.rothlin@yale.edu.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/27034374" target="_blank"〉PubMed〈/a〉
    Keywords: Adaptive Immunity/*genetics ; Animals ; Asthma/genetics/*immunology ; Blood Proteins/antagonists & inhibitors/genetics/metabolism ; Dendritic Cells/immunology ; Disease Models, Animal ; Gene Knockout Techniques ; Host-Parasite Interactions/genetics/*immunology ; Humans ; Immunity, Innate/*genetics ; Interleukin-4/immunology/pharmacology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Nippostrongylus/immunology ; Pyroglyphidae/immunology ; Receptor Protein-Tyrosine Kinases/genetics/*physiology ; Strongylida Infections/immunology ; T-Lymphocytes/immunology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
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    Fast and accurate inference of local ancestry in Latino populations (2012)
    Oxford University Press
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    Publication Date: 2012-05-10
    Description: Motivation: It is becoming increasingly evident that the analysis of genotype data from recently admixed populations is providing important insights into medical genetics and population history. Such analyses have been used to identify novel disease loci, to understand recombination rate variation and to detect recent selection events. The utility of such studies crucially depends on accurate and unbiased estimation of the ancestry at every genomic locus in recently admixed populations. Although various methods have been proposed and shown to be extremely accurate in two-way admixtures (e.g. African Americans), only a few approaches have been proposed and thoroughly benchmarked on multi-way admixtures (e.g. Latino populations of the Americas). Results: To address these challenges we introduce here methods for local ancestry inference which leverage the structure of linkage disequilibrium in the ancestral population (LAMP-LD), and incorporate the constraint of Mendelian segregation when inferring local ancestry in nuclear family trios (LAMP-HAP). Our algorithms uniquely combine hidden Markov models (HMMs) of haplotype diversity within a novel window-based framework to achieve superior accuracy as compared with published methods. Further, unlike previous methods, the structure of our HMM does not depend on the number of reference haplotypes but on a fixed constant, and it is thereby capable of utilizing large datasets while remaining highly efficient and robust to over-fitting. Through simulations and analysis of real data from 489 nuclear trio families from the mainland US, Puerto Rico and Mexico, we demonstrate that our methods achieve superior accuracy compared with published methods for local ancestry inference in Latinos. Availability: http://lamp.icsi.berkeley.edu/lamp/lampld/ Contact: bpasaniu@hsph.harvard.edu Supplementary information: Supplementary data are available at Bioinformatics online.
    Print ISSN: 1367-4803
    Electronic ISSN: 1460-2059
    Topics: Biology , Computer Science , Medicine
    Published by Oxford University Press
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  • 8
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    Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3) (2005)
    Springer Nature
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    Publication Date: 2005-03-01
    Print ISSN: 1470-269X
    Electronic ISSN: 1473-1150
    Topics: Chemistry and Pharmacology
    Published by Springer Nature
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  • 9
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    Gene-based association identifies SPATA13-AS1 as a pharmacogenomic predictor of inhaled short-acting beta-agonist response in multiple population groups (2014)
    Springer Nature
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    Publication Date: 2014-01-14
    Print ISSN: 1470-269X
    Electronic ISSN: 1473-1150
    Topics: Chemistry and Pharmacology
    Published by Springer Nature
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  • 10
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    Genome-wide interaction studies reveal sex-specific asthma risk alleles (2014)
    Oxford University Press
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    Publication Date: 2014-09-10
    Description: Asthma is a complex disease with sex-specific differences in prevalence. Candidate gene studies have suggested that genotype-by-sex interaction effects on asthma risk exist, but this has not yet been explored at a genome-wide level. We aimed to identify sex-specific asthma risk alleles by performing a genome-wide scan for genotype-by-sex interactions in the ethnically diverse participants in the EVE Asthma Genetics Consortium. We performed male- and female-specific genome-wide association studies in 2653 male asthma cases, 2566 female asthma cases and 3830 non-asthma controls from European American, African American, African Caribbean and Latino populations. Association tests were conducted in each study sample, and the results were combined in ancestry-specific and cross-ancestry meta-analyses. Six sex-specific asthma risk loci had P -values 〈 1 x 10 –6 , of which two were male specific and four were female specific; all were ancestry specific. The most significant sex-specific association in European Americans was at the interferon regulatory factor 1 ( IRF1 ) locus on 5q31.1. We also identify a Latino female-specific association in RAP1GAP2 . Both of these loci included single-nucleotide polymorphisms that are known expression quantitative trait loci and have been associated with asthma in independent studies. The IRF1 locus is a strong candidate region for male-specific asthma susceptibility due to the association and validation we demonstrate here, the known role of IRF1 in asthma-relevant immune pathways and prior reports of sex-specific differences in interferon responses.
    Print ISSN: 0964-6906
    Electronic ISSN: 1460-2083
    Topics: Biology , Medicine
    Published by Oxford University Press
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