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Articles by Neil Risch
Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans
Keywords locus 9p21.3 coronary artery disease fine-mapping lack of replication ancestry specific cross-ancestry Get full text access Log in, subscribe or purchase for full access. References 1. Samani, N.J. ∙ Erdmann, J. ∙ Hall, A.S. ... Genomewide Association Analysis of Coronary Artery Disease N. Engl. J. Med. 2007; 357:443-453 2. Tcheandjieu, C. ∙ Zhu, X. ∙ Hilliard, A.T. ... Large-scale genome-wide association study of coronary artery disease in genetically diverse populations Nat. Med.
Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks
Keywords clinical genetics loss-of-function variants machine learning population screening Get full text access Log in, subscribe or purchase for full access. References 1. Srivastava, S. ∙ Love-Nichols, J.A. ∙ Dies, K.A. ... Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders Genet. Med. 2019; 21:2413-2421 2. Scocchia, A. ∙ Wigby, K.M. ∙ Masser-Frye, D.
Dissecting the Reduced Penetrance of Putative Loss-of-Function Variants in Population-Scale Biobanks
The first author (D. Blair) has received research funding from BioMarin, Idorsia, QED Therapeutics and Sanofi in the last 36 months. None of the research reported in this manuscript was funded by these entities. This work was supported by grants from the National, Heart, Lung and Blood Institute (K38HL164956) and the George Banks and Sarah Ellen Huntington Memorial Fund.
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy - Nature Communications
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Abstract Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix®. Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1).
By Eilon Sharon, Nasa Sinnott-Armstrong, Aditya Ambati, Otto A. Jolanki, Isabelle Arnulf, Rosa Peraita-Adrados, Sebastiaan Overeem, Karel Sonka, Eva Feketeová, Mia Wadelius, Niclas Eriksson, Pär Hallberg, Sheela Nampoothiri, Ingrid Kockum, Birgitte R. Kornum, Sina Rüeger, Juliane Winkelmann, Seik-Soon Khor, Manuel Rivas, Neil Risch, Zoltán Kutalik, Chun Jimmie Ye, Per Medbøe Thorsby, Sona Nevsimalova, Vilma Mantovani
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Nature
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Genetic analysis of Sephardic ancestry in the Iberian Peninsula
Genetic analysis of Sephardic ancestry in the Iberian Peninsula Miguel M Alvarez-Alvarez, Neil Risch, Christopher R Gignoux, Scott Huntsman, Elad Ziv, Laura Fejerman, Maria Esther Esteban, Magdalena Gaya-Vidal, Beatriz Sobrino, Francesca Brisighelli, Nourdin Harich, Fulvio Cruciani, Hassen Chaabani, Angel Carracedo, Pedro Moral, Esteban Gonzalez Burchard, Marc Via, Georgios Athanasiadis bioRxiv 325779; doi: https://doi.org/10.1101/325779
Categorization of humans in biomedical research: genes, race and disease
The discussion above provides an objective perspective from which to examine the question of genetic categorization of humans for biomedical research purposes. As for non-genetic risk factors, the ultimate goal of genetic research is to identify those specific genes and gene variants that influence the risk of disease, a quantitative outcome of interest, or response to a particular drug.
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