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51. Causal associations of tobacco smoking with cardiovascular risk factors: a Mendelian randomization analysis of the HUNT Study in Norway

Author: Åsvold, Bjørn O, Bjørngaard, Johan H, Carslake, David, Gabrielsen, Maiken E, Skorpen, Frank, Davey Smith, George, and Romundstad, Pål R
Published: 2014
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52. Joint Effect of Multiple Prothrombotic Genotypes and Obesity on the Risk of Incident Venous Thromboembolism

Author: Frischmuth, Tobias, additional, Hindberg, Kristian, additional, Gabrielsen, Maiken E., additional, Brumpton, Ben, additional, Hveem, Kristian, additional, Brækkan, Sigrid K., additional, Hansen, John-Bjarne, additional, and Morelli, Vânia M., additional
Published: 2021
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53. The Risk of Venous Thromboembolism Attributed to Established Prothrombotic Genotypes.

Author: Evensen, Line H., Arnesen, Carl Arne Løchen, Rosendaal, Frits R., Gabrielsen, Maiken E., Brumpton, Ben M., Hveem, Kristian, Hansen, John-Bjarne, and Brækkan, Sigrid K.
Published: 2022
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54. Interleukin-6 Signaling Effects on Ischemic Stroke and Other Cardiovascular Outcomes: A Mendelian Randomization Study

Author: Georgakis, Marios K, Malik, Rainer, Gordon, William, Davey-Smith, George, Morrison, Alanna C, Hicks, Andrew, van Duijn, Cornelia M, Ward-Caviness, Cavin, Boerwinkle, Eric, Rotter, J., Rice, Ken, Lange, Leslie, Perola, Markus, van Hylckama Vlieg, Astrid, de Geus, Eco, Morris, Andrew P, Makela, Kari Matti, Stacey, David, Eriksson, Johan, Frayling, Tim M, Slagboom, Eline P, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Haessler, Jeffrey, Brumpton, Ben M, Chasman, Daniel I, Suchon, Pierre, Chen, Ming-Huei, Gill, Dipender, Turman, Constance, Germain, Marine, Wiggins, Kerri L, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Pankratz, Nathan, Jackson, Rabecca D, Nielsen, Jonas B, Giulianini, Franco, Franceschini, Nora, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Damrauer, Scott M, Natarajan, Pradeep, Klarin, Derek, de Vries, Paul S, SabaterLleal, Maria, Huffman, Jennifer E, Bammler, Theo K, Sudlow, Cathie L M, Frazer, Kelly A, McCauley, Bryan M, Taylor, Kent, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean-François, O'Donnell, Chris J, Kim, Jihye, McKnight, Barbara, Dichgans, Martin, Kraft, Peter, Hansen, JohnBjarne, Rosendaal, Frits R, Heit, John A, Psaty, Bruce M, Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M, Morange, Pierre Emmanuel, INVENT Consortium, CHARGE Inflammation Working Group, Johnson, Andrew D, Kabrhel, Christopher, Trégouët, David-Alexandre, Smith, Nicholas L, Benjamin, Emelia, Dehghan, Abbas, Ahluwalia, Tarunveer Singh, Meigs, James, Tracy, Russell, Lindstrom, Sara, Alizadeh, Behrooz Z, Ligthart, Symen, Bis, Josh, Eiriksdottir, Gudny, Gross, Myron, Rainer, Alex, Snieder, Harold, Wilson, James G, Wang, Lu, Dupuis, Josee, Prins, Bram, Vaso, Urmo, Stathopoulou, Maria, Franke, Lude, Lehtimaki, Terho, Koenig, Wolfgang, Jamshidi, Yalda, Siest, Sophie, Abbasi, Ali, Smith, Erin N, Uitterlinden, Andre G, Abdollahi, Mohammadreza, Schnabel, Renate, Schick, Ursula M, Nolte, Ilja M, Kraja, Aldi, Hsu, Yi-Hsiang, Tylee, Daniel S, Zwicker, Alyson, Uher, Rudolf, Environmental Geography (former), and Biological Psychology
Subjects: Male, Genome-wide association study, Disease, 030204 cardiovascular system & hematology, Coronary artery disease, 0302 clinical medicine, Medicine, genetics, Myocardial infarction, Stroke, diagnostic imaging [Ischemic Stroke], 0303 health sciences, Atrial fibrillation, General Medicine, stroke, 3. Good health, Cardiology, Female, coronary artery disease, INVENT Consortium,CHARGE Inflammation Working Group, Signal Transduction, medicine.medical_specialty, genetics [Interleukin-6], Lower risk, genetics [Signal Transduction], 03 medical and health sciences, Internal medicine, Mendelian randomization, Research Letter, Humans, Genetic Predisposition to Disease, ddc:610, Ischemic Stroke, 030304 developmental biology, Interleukin-6, business.industry, Odds ratio, genetics [Ischemic Stroke], Mendelian Randomization Analysis, medicine.disease, cardiovascular diseases, inflammation, business, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: BackgroundStudies in humans and experimental models highlight a role of interleukin-6 (IL-6) in cardiovascular disease. Indirect evidence suggests that inhibition of IL-6 signaling could lower risk of coronary artery disease. However, whether such an approach would be effective for ischemic stroke and other cardiovascular outcomes remains unknown.MethodsIn a genome-wide association study (GWAS) of 204,402 European individuals, we identified genetic proxies for downregulated IL-6 signaling as genetic variants in the IL-6 receptor (IL6R) locus that were associated with lower C-reactive protein (CRP) levels, a downstream effector of IL-6 signaling. We then applied two-sample Mendelian randomization (MR) to explore associations with ischemic stroke and its major subtypes (large artery stroke, cardioembolic stroke, small vessel stroke) in the MEGASTROKE dataset (34,217 cases and 404,630 controls), with coronary artery disease in the CARDIoGRAMplusC4D dataset (60,801 cases and 123,504 control), and with other cardiovascular outcomes in the UK Biobank (up to 321,406 individuals) and in phenotype-specific GWAS datasets. All effect estimates were scaled to the CRP-decreasing effects of tocilizumab, a monoclonal antibody targeting IL-6R.ResultsWe identified 7 genetic variants as proxies for downregulated IL-6 signaling, which showed effects on upstream regulators (IL-6 and soluble IL-6R levels) and downstream effectors (CRP and fibrinogen levels) of the pathway that were consistent with pharmacological blockade of IL-6R. In MR, proxies for downregulated IL-6 signaling were associated with lower risk of ischemic stroke (Odds Ratio [OR]: 0.89, 95%CI: 0.82-0.97) and coronary artery disease (OR: 0.84, 95%CI: 0.77-0.90). Focusing on ischemic stroke subtypes, we found significant associations with risk of large artery (OR: 0.76, 95%CI: 0.62-0.93) and small vessel stroke (OR: 0.71, 95%CI: 0.59-0.86), but not cardioembolic stroke (OR: 0.95, 95%CI: 0.74-1.22). Proxies for IL-6 signaling inhibition were further associated with a lower risk of myocardial infarction, aortic aneurysm, atrial fibrillation and carotid plaque.ConclusionsWe provide evidence for a causal effect of IL-6 signaling on ischemic stroke, particularly large artery and small vessel stroke, and a range of other cardiovascular outcomes. IL-6R blockade might represent a valid therapeutic target for lowering cardiovascular risk and should thus be investigated in clinical trials.CLINICAL PERSPECTIVEWhat is newWe identified genetic proxies for downregulated IL-6 signaling that had effects on upstream and downstream regulators of the IL-6 signaling pathway consistent with those of pharmacological IL-6R blockadeGenetically downregulated IL-6 signaling was associated with a lower risk of ischemic stroke, and in particular large artery and small vessel strokeSimilar associations were obtained for a broad range of other cardiovascular outcomesWhat are the clinical implicationsInhibition of IL-6 signaling is a promising therapeutic target for lowering risk of stroke and other cardiovascular outcomes and should be further investigated in clinical trials
Published: 2020

55. Age-of-onset information helps identify 76 genetic variants associated with allergic disease

Author: Ferreira, Manuel A R, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Grosche, Sarah, Rüschendorf, Franz, Granell, Raquel, Brumpton, Ben M, Fritsche, Lars G, Bhatta, Laxmi, Gabrielsen, Maiken E, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Emami, Nima C, Cavazos, Taylor B, Witte, John S, Szwajda, Agnieszka, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik Ke, Jorgenson, Eric, Karlsson, Robert, Paternoster, Lavinia, Boomsma, Dorret I, Almqvist, Catarina, Lee, Young-Ae, Koppelman, Gerard H, Ferreira, Manuel A R, Vonk, Judith M, Baurecht, Hansjörg, Marenholz, Ingo, Tian, Chao, Hoffman, Joshua D, Helmer, Quinta, Tillander, Annika, Ullemar, Vilhelmina, Lu, Yi, Grosche, Sarah, Rüschendorf, Franz, Granell, Raquel, Brumpton, Ben M, Fritsche, Lars G, Bhatta, Laxmi, Gabrielsen, Maiken E, Nielsen, Jonas B, Zhou, Wei, Hveem, Kristian, Langhammer, Arnulf, Holmen, Oddgeir L, Løset, Mari, Abecasis, Gonçalo R, Willer, Cristen J, Emami, Nima C, Cavazos, Taylor B, Witte, John S, Szwajda, Agnieszka, Hinds, David A, Hübner, Norbert, Weidinger, Stephan, Magnusson, Patrik Ke, Jorgenson, Eric, Karlsson, Robert, Paternoster, Lavinia, Boomsma, Dorret I, Almqvist, Catarina, Lee, Young-Ae, and Koppelman, Gerard H
Abstract: Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<3x10-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.5x10-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.
Published: 2020
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56. Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Author: Nielsen, Jonas B., Rom, Oren, Surakka, Ida, Graham, Sarah E., Zhou, Wei, Roychowdhury, Tanmoy, Fritsche, Lars G., Taliun, Sarah A. Gagliano, Sidore, Carlo, Liu, Yuhao, Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Overton, William, Zhao, Ying, Chen, Jin, Zhang, He, Hornsby, Whitney E., Acheampong, Akua, Grooms, Austen, Schaefer, Amanda, Zajac, Gregory J. M., Villacorta, Luis, Zhang, Jifeng, Brumpton, Ben, Loset, Mari, Rai, Vivek, Lundegaard, Pia R., Olesen, Morten S., Taylor, Kent D., Palmer, Nicholette D., Chen, Yii-Der, Choi, Seung H., Lubitz, Steven A., Ellinor, Patrick T., Barnes, Kathleen C., Daya, Michelle, Rafaels, Nicholas, Weiss, Scott T., Lasky-Su, Jessica, Tracy, Russell P., Vasan, Ramachandran S., Cupples, L. Adrienne, Mathias, Rasika A., Yanek, Lisa R., Becker, Lewis C., Peyser, Patricia A., Bielak, Lawrence F., Smith, Jennifer A., Aslibekyan, Stella, Nielsen, Jonas B., Rom, Oren, Surakka, Ida, Graham, Sarah E., Zhou, Wei, Roychowdhury, Tanmoy, Fritsche, Lars G., Taliun, Sarah A. Gagliano, Sidore, Carlo, Liu, Yuhao, Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Overton, William, Zhao, Ying, Chen, Jin, Zhang, He, Hornsby, Whitney E., Acheampong, Akua, Grooms, Austen, Schaefer, Amanda, Zajac, Gregory J. M., Villacorta, Luis, Zhang, Jifeng, Brumpton, Ben, Loset, Mari, Rai, Vivek, Lundegaard, Pia R., Olesen, Morten S., Taylor, Kent D., Palmer, Nicholette D., Chen, Yii-Der, Choi, Seung H., Lubitz, Steven A., Ellinor, Patrick T., Barnes, Kathleen C., Daya, Michelle, Rafaels, Nicholas, Weiss, Scott T., Lasky-Su, Jessica, Tracy, Russell P., Vasan, Ramachandran S., Cupples, L. Adrienne, Mathias, Rasika A., Yanek, Lisa R., Becker, Lewis C., Peyser, Patricia A., Bielak, Lawrence F., Smith, Jennifer A., and Aslibekyan, Stella
Abstract: Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide analyses of participants in the HUNT Study in Norway (n=69,479) to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function. We identify 76 (11 previously unreported) presumed causal protein-altering variants associated with one or more CVD- or liver-related blood traits. Nine of the variants are predicted to result in loss-of-function of the protein. This includes ZNF529:p.K405X, which is associated with decreased low-density-lipoprotein (LDL) cholesterol (P=1.3x10(-8)) without being associated with liver enzymes or non-fasting blood glucose. Silencing of ZNF529 in human hepatoma cells results in upregulation of LDL receptor and increased LDL uptake in the cells. This suggests that inhibition of ZNF529 or its gene product should be prioritized as a novel candidate drug target for treating dyslipidemia and associated CVD. Drugs targeting cardiovascular disease (CVD) can have negative consequences for liver function. Here, the authors combine genome wide analyses on 69,479 individuals to identify loss-of-function variants with beneficial effects on CVD-related traits without negative impacts on liver function.
Published: 2020

57. Is smoking heaviness causally associated with alcohol use? A Mendelian randomization study in four European cohorts

Author: Taylor, Michelle, Rode, Line, Bjørngaard, Johan, Taylor, Amy E, Bojesen, Stig E, Åsvold, Bjørn O, Gabrielsen, Maiken E, Lewis, Glyn, Nordestgaard, Børge G, Romundstad, Pål R, Hickman, Matthew, and Munafò, Marcus R
Subjects: Adult, Male, CGPS, UK Biobank, Alcohol Drinking, Databases, Factual, Polymorphism, Single Nucleotide, Cigarette Smoking, Young Adult, Tobacco, Mendelian randomization, Humans, Longitudinal Studies, Alleles, Aged, Aged, 80 and over, HUNT, Licit drugs, ALSPAC, Mendelian Randomization Analysis, Middle Aged, Causality, Europe, licit drugs, Linear Models, Female
Abstract: Background Observational studies have shown that tobacco and alcohol use co-occur, but it is not clear whether this relationship is causal. Methods Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC) and UK Biobank, we used observational methods to test the hypothesis that smoking heaviness increases alcohol consumption. Mendelian randomization (MR) analyses were then used to test the causal relationship between smoking heaviness and alcohol consumption using 55 967 smokers from four European studies [ALSPAC, The Nord-Trøndelag Health Study (HUNT), the Copenhagen General Population Study (CGPS) and UK Biobank]. MR analyses used rs1051730/rs16969968 as a genetic proxy for smoking heaviness. Results Observational results provided evidence of an association between cigarettes per day and weekly alcohol consumption (increase in units of alcohol per additional cigarette smoked per day = 0.10, 95% confidence interval (CI) 0.05 to 0.15, P ≤ 0.001 in ALSPAC; and 0.48, 95% CI 0.45 to 0.52, P ≤ 0.001 in UK Biobank). However, there was little evidence for an association between rs1051730/rs16969968 and units of alcohol consumed per week across ALSPAC, HUNT, CGPS and UK Biobank (standard deviation increase in units of alcohol per additional copy of the risk allele = –0.004, 95% CI –0.023 to 0.016, P=0.708, I2 = 51.9%). We had 99% and 88% power to detect a change of 0.03 and 0.02 standard deviation units of alcohol per additional copy of the risk allele, respectively. Conclusions Previously reported associations between smoking and alcohol are unlikely to be causal, and may be the result of confounding and/or reverse causation. This has implications for public health research and intervention research. Copyright The Author(s) 2018. Published by Oxford University Press on behalf of the International Epidemiological Association. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/)
Published: 2018

58. Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

Author: Zhou, Wei, primary, Zhao, Zhangchen, additional, Nielsen, Jonas B., additional, Fritsche, Lars G., additional, LeFaive, Jonathon, additional, Gagliano Taliun, Sarah A., additional, Bi, Wenjian, additional, Gabrielsen, Maiken E., additional, Daly, Mark J., additional, Neale, Benjamin M., additional, Hveem, Kristian, additional, Abecasis, Goncalo R., additional, Willer, Cristen J., additional, and Lee, Seunggeun, additional
Published: 2020
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59. Joint Effect of Multiple Prothrombotic Genotypes and Obesity on the Risk of Incident Venous Thromboembolism.

Author: Frischmuth, Tobias, Hindberg, Kristian, Gabrielsen, Maiken E., Brumpton, Ben, Hveem, Kristian, Brækkan, Sigrid K., Hansen, John-Bjarne, and Morelli, Vânia M.
Published: 2022
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60. Fibrinogen gamma gene rs2066865 and risk of cancer-related venous thromboembolism

Author: Paulsen, Benedikte, primary, Skille, Hanne, additional, Smith, Erin N., additional, Hveem, Kristian, additional, Gabrielsen, Maiken E., additional, Brækkan, Sigrid K., additional, Rosendaal, Frits R., additional, Frazer, Kelly A., additional, Gran, Olga V., additional, and Hansen, John-Bjarne, additional
Published: 2019
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61. Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

Author: Nielsen, Jonas B., primary, Rom, Oren, additional, Surakka, Ida, additional, Graham, Sarah E., additional, Zhou, Wei, additional, Fritsche, Lars G., additional, Gagliano Taliun, Sarah A., additional, Sidore, Carlo, additional, Liu, Yuhao, additional, Gabrielsen, Maiken E., additional, Skogholt, Anne Heidi, additional, Wolford, Brooke, additional, Overton, William, additional, Hornsby, Whitney E., additional, Acheampong, Akua, additional, Grooms, Austen, additional, Roychowdhury, Tanmoy, additional, Schaefer, Amanda, additional, Zajac, Gregory JM, additional, Villacorta, Luis, additional, Zhang, Jifeng, additional, Brumpton, Ben, additional, Løset, Mari, additional, Rai, Vivek, additional, Taylor, Kent D., additional, Palmer, Nicholette D., additional, Chen, Yii-Der, additional, Choi, Seung Hoan, additional, Lubitz, Steven A., additional, Ellinor, Patrick T., additional, Barnes, Kathleen C., additional, Daya, Michelle, additional, Rafaels, Nicholas, additional, Weiss, Scott T., additional, Lasky-Su, Jessica, additional, Tracy, Russell P., additional, Vasan, Ramachandran S., additional, Cupples, L. Adrienne, additional, Mathias, Rasika A., additional, Yanek, Lisa R., additional, Becker, Lewis C., additional, Peyser, Patricia A., additional, Bielak, Lawrence F., additional, Smith, Jennifer A., additional, Aslibekyan, Stella, additional, Hildalgo, Bertha A., additional, Arnett, Donna K., additional, Irvin, Marguerite R., additional, Wilson, James G., additional, Musani, Solomon K., additional, Correa, Adolfo, additional, Rich, Stephen S., additional, Guo, Xiuqing, additional, Rotter, Jerome I., additional, Konkle, Barbara A., additional, Johnsen, Jill M., additional, Ashley-Koch, Allison E., additional, Telen, Marilyn J., additional, Sheehan, Vivien A., additional, Blangero, John, additional, Curran, Joanne E., additional, Peralta, Juan M., additional, Montgomery, Courtney, additional, Sheu, Wayne H-H, additional, Chung, Ren-Hua, additional, Schwander, Karen, additional, Nouraie, Seyed M., additional, Gordeuk, Victor R., additional, Zhang, Yingze, additional, Kooperberg, Charles, additional, Reiner, Alexander P., additional, Jackson, Rebecca D., additional, Bleecker, Eugene R., additional, Meyers, Deborah A., additional, Li, Xingnan, additional, Das, Sayantan, additional, Yu, Ketian, additional, LeFaive, Jonathon, additional, Smith, Albert, additional, Blackwell, Tom, additional, Taliun, Daniel, additional, Zollner, Sebastian, additional, Forer, Lukas, additional, Schoenherr, Sebastian, additional, Fuchsberger, Christian, additional, Pandit, Anita, additional, Zawistowski, Matthew, additional, Kheterpal, Sachin, additional, Brummett, Chad M., additional, Natarajan, Pradeep, additional, Schlessinger, David, additional, Lee, Seunggeun, additional, Kang, Hyun Min, additional, Cucca, Francesco, additional, Holmen, Oddgeir L., additional, Åsvold, Bjørn O., additional, Boehnke, Michael, additional, Kathiresan, Sekar, additional, Abecasis, Goncalo, additional, Chen, Y. Eugene, additional, Willer, Cristen J., additional, and Hveem, Kristian, additional
Published: 2019
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62. Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

Author: Zhou, Wei, primary, Zhao, Zhangchen, additional, Nielsen, Jonas B., additional, Fritsche, Lars G., additional, LeFaive, Jonathon, additional, Gagliano Taliun, Sarah A., additional, Bi, Wenjian, additional, Gabrielsen, Maiken E., additional, Daly, Mark J., additional, Neale, Benjamin M., additional, Hveem, Kristian, additional, Abecasis, Goncalo R., additional, Willer, Cristen J., additional, and Lee, Seunggeun, additional
Published: 2019
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63. Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Author: Nielsen, Jonas B., Fritsche, Lars G., Zhou, Wei, Teslovich, Tanya M., Holmen, Oddgeir L., Gustafsson, Stefan, Gabrielsen, Maiken E., Schmidt, Ellen M., Beaumont, Robin, Wolford, Brooke N., Lin, Maoxuan, Brummett, Chad M., Preuss, Michael H., Refsgaard, Lena, Bottinger, Erwin P., Graham, Sarah E., Surakka, Ida, Chu, Yunhan, Skogholt, Anne Heidi, Dalen, Havard, Boyle, Alan P., Oral, Hakan, Herron, Todd J., Kitzman, Jacob, Jalife, Jose, Svendsen, Jesper H., Olesen, Morten S., Njolstad, Inger, Lochen, Maja-Lisa, Baras, Aris, Gottesman, Omri, Marcketta, Anthony, O'Dushlaine, Colm, Ritchie, Marylyn D., Wilsgaard, Tom, Loos, Ruth J. F., Frayling, Timothy M., Boehnke, Michael, Ingelsson, Erik, Carey, David J., Dewey, Frederick E., Kang, Hyun M., Abecasis, Goncalo R., Hveem, Kristian, Willer, Cristen J., Nielsen, Jonas B., Fritsche, Lars G., Zhou, Wei, Teslovich, Tanya M., Holmen, Oddgeir L., Gustafsson, Stefan, Gabrielsen, Maiken E., Schmidt, Ellen M., Beaumont, Robin, Wolford, Brooke N., Lin, Maoxuan, Brummett, Chad M., Preuss, Michael H., Refsgaard, Lena, Bottinger, Erwin P., Graham, Sarah E., Surakka, Ida, Chu, Yunhan, Skogholt, Anne Heidi, Dalen, Havard, Boyle, Alan P., Oral, Hakan, Herron, Todd J., Kitzman, Jacob, Jalife, Jose, Svendsen, Jesper H., Olesen, Morten S., Njolstad, Inger, Lochen, Maja-Lisa, Baras, Aris, Gottesman, Omri, Marcketta, Anthony, O'Dushlaine, Colm, Ritchie, Marylyn D., Wilsgaard, Tom, Loos, Ruth J. F., Frayling, Timothy M., Boehnke, Michael, Ingelsson, Erik, Carey, David J., Dewey, Frederick E., Kang, Hyun M., Abecasis, Goncalo R., Hveem, Kristian, and Willer, Cristen J.
Abstract: Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals. Through genotyping and dense imputation mapping from whole-genome sequencing, we tested almost nine million genetic variants across the genome and identified seven risk loci, including two novel loci. One novel locus (lead single-nucleotide variant [SNV] rs12614435; p = 6.76 × 10−18) comprised intronic and several highly correlated missense variants situated in the I-, A-, and M-bands of titin, which is the largest protein in humans and responsible for the passive elasticity of heart and skeletal muscle. The other novel locus (lead SNV rs56202902; p = 1.54 × 10−11) covered a large, gene-dense chromosome 1 region that has previously been linked to cardiac conduction. Pathway and functional enrichment analyses suggested that many AF-associated genetic variants act through a mechanism of impaired muscle cell differentiation and tissue formation during fetal heart development.
Published: 2018
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64. Is smoking heaviness causally associated with alcohol use?:A Mendelian randomization study in four European cohorts

Author: Taylor, Michelle, Rode, Line, Bjørngaard, Johan, Taylor, Amy E., Bojesen, Stig E., Åsvold, Bjørn O., Gabrielsen, Maiken E., Lewis, Glyn, Nordestgaard, Børge G., Romundstad, Pal R., Hickman, Matthew, Munafò, Marcus R., Taylor, Michelle, Rode, Line, Bjørngaard, Johan, Taylor, Amy E., Bojesen, Stig E., Åsvold, Bjørn O., Gabrielsen, Maiken E., Lewis, Glyn, Nordestgaard, Børge G., Romundstad, Pal R., Hickman, Matthew, and Munafò, Marcus R.
Abstract: Background: Observational studies have shown that tobacco and alcohol use co-occur, but it is not clear whether this relationship is causal. Methods: Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC) and UK Biobank, we used observational methods to test the hypothesis that smoking heaviness increases alcohol consumption. Mendelian randomization (MR) analyses were then used to test the causal relationship between smoking heaviness and alcohol consumption using 55 967 smokers from four European studies [ALSPAC, The Nord-Trøndelag Health Study (HUNT), the Copenhagen General Population Study (CGPS) and UK Biobank]. MR analyses used rs1051730/rs16969968 as a genetic proxy for smoking heaviness. Results: Observational results provided evidence of an association between cigarettes per day and weekly alcohol consumption (increase in units of alcohol per additional cigarette smoked per day = 0.10, 95% confidence interval (CI) 0.05 to 0.15, P ≤ 0.001 inALSPAC; and 0.48, 95% CI 0.45 to 0.52, P ≤ 0.001 in UK Biobank). However, there was little evidence for an association between rs1051730/rs16969968 and units of alcohol consumed per week across ALSPAC, HUNT, CGPS and UK Biobank (standard deviation increase in units of alcohol per additional copy of the risk allele =-0.004, 95% CI-0.023 to 0.016, P=0.708, I2 = 51.9%). We had 99% and 88% power to detect a change of 0.03 and 0.02 standard deviation units of alcohol per additional copy of the risk allele, respectively. Conclusions: Previously reported associations between smoking and alcohol are unlikely to be causal, and may be the result of confounding and/or reverse causation. This has implications for public health research and intervention research.
Published: 2018

65. COL11A1is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study

Author: Jacobsen, Kaya Kvarme, Børte, Sigrid, Laborie, Lene Bjerke, Kristiansen, Hege, Schäfer, Annette, Martinsen, Amy E., Skogholt, Anne Heidi, Brumpton, Ben M., Willer, Cristen J., Fors, Egil A., Kristoffersen, Espen S., Heuch, Ingrid, Mundal, Ingunn, Zwart, John-Anker, Nielsen, Jonas B., Storheim, Kjersti, Hagen, Knut, Nilsen, Kristian Bernhard, Hveem, Kristian, Fritsche, Lars G., Thomas, Laurent F., Pedersen, Linda M., Gabrielsen, Maiken E., Lie, Marie U., Stensland, Synne Ø., Zhou, Wei, Gundersen, Trude, Zayats, Tetyana, Slagsvold Winsvold, Bendik Kristoffer, and Rosendahl, Karen
Abstract: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2–3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30 % of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome.
Published: 2024
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66. Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

Author: Nielsen, Jonas B., primary, Thorolfsdottir, Rosa B., additional, Fritsche, Lars G., additional, Zhou, Wei, additional, Skov, Morten W., additional, Graham, Sarah E., additional, Herron, Todd J., additional, McCarthy, Shane, additional, Schmidt, Ellen M., additional, Sveinbjornsson, Gardar, additional, Surakka, Ida, additional, Mathis, Michael R., additional, Yamazaki, Masatoshi, additional, Crawford, Ryan D., additional, Gabrielsen, Maiken E., additional, Skogholt, Anne Heidi, additional, Holmen, Oddgeir L., additional, Lin, Maoxuan, additional, Wolford, Brooke N., additional, Dey, Rounak, additional, Dalen, Håvard, additional, Sulem, Patrick, additional, Chung, Jonathan H., additional, Backman, Joshua D., additional, Arnar, David O., additional, Thorsteinsdottir, Unnur, additional, Baras, Aris, additional, O’Dushlaine, Colm, additional, Holst, Anders G., additional, Wen, Xiaoquan, additional, Hornsby, Whitney, additional, Dewey, Frederick E., additional, Boehnke, Michael, additional, Kheterpal, Sachin, additional, Lee, Seunggeun, additional, Kang, Hyun M., additional, Holm, Hilma, additional, Kitzman, Jacob, additional, Shavit, Jordan A., additional, Jalife, José, additional, Brummett, Chad M., additional, Teslovich, Tanya M., additional, Carey, David J., additional, Gudbjartsson, Daniel F., additional, Stefansson, Kari, additional, Abecasis, Goncalo R., additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
Published: 2018
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67. Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Author: Nielsen, Jonas B., primary, Fritsche, Lars G., additional, Zhou, Wei, additional, Teslovich, Tanya M., additional, Holmen, Oddgeir L., additional, Gustafsson, Stefan, additional, Gabrielsen, Maiken E., additional, Schmidt, Ellen M., additional, Beaumont, Robin, additional, Wolford, Brooke N., additional, Lin, Maoxuan, additional, Brummett, Chad M., additional, Preuss, Michael H., additional, Refsgaard, Lena, additional, Bottinger, Erwin P., additional, Graham, Sarah E., additional, Surakka, Ida, additional, Chu, Yunhan, additional, Skogholt, Anne Heidi, additional, Dalen, Håvard, additional, Boyle, Alan P., additional, Oral, Hakan, additional, Herron, Todd J., additional, Kitzman, Jacob, additional, Jalife, José, additional, Svendsen, Jesper H., additional, Olesen, Morten S., additional, Njølstad, Inger, additional, Løchen, Maja-Lisa, additional, Baras, Aris, additional, Gottesman, Omri, additional, Marcketta, Anthony, additional, O’Dushlaine, Colm, additional, Ritchie, Marylyn D., additional, Wilsgaard, Tom, additional, Loos, Ruth J.F., additional, Frayling, Timothy M., additional, Boehnke, Michael, additional, Ingelsson, Erik, additional, Carey, David J., additional, Dewey, Frederick E., additional, Kang, Hyun M., additional, Abecasis, Gonçalo R., additional, Hveem, Kristian, additional, and Willer, Cristen J., additional
Published: 2018
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68. Heavier smoking increases coffee consumption:findings from a Mendelian randomization analysis

Author: Bjørngaard, Johan H, Nordestgaard, Ask Tybjærg, Taylor, Amy E, Treur, Jorien L, Gabrielsen, Maiken E, Munafò, Marcus R, Nordestgaard, Børge Grønne, Åsvold, Bjørn Olav, Romundstad, Pål, Davey Smith, George, Bjørngaard, Johan H, Nordestgaard, Ask Tybjærg, Taylor, Amy E, Treur, Jorien L, Gabrielsen, Maiken E, Munafò, Marcus R, Nordestgaard, Børge Grønne, Åsvold, Bjørn Olav, Romundstad, Pål, and Davey Smith, George
Abstract: Background: There is evidence for a positive relationship between cigarette and coffee consumption in smokers. Cigarette smoke increases metabolism of caffeine, so this may represent a causal effect of smoking on caffeine intake.Methods: We performed Mendelian randomization analyses in the UK Biobank ( N = 114 029), the Norwegian HUNT study ( N = 56 664) and the Copenhagen General Population Study (CGPS) ( N = 78 650). We used the rs16969968 genetic variant as a proxy for smoking heaviness in all studies and rs4410790 and rs2472297 as proxies for coffee consumption in UK Biobank and CGPS. Analyses were conducted using linear regression and meta-analysed across studies.Results: Each additional cigarette per day consumed by current smokers was associated with higher coffee consumption (0.10 cups per day, 95% CI: 0.03, 0.17). There was weak evidence for an increase in tea consumption per additional cigarette smoked per day (0.04 cups per day, 95% CI: -0.002, 0.07). There was strong evidence that each additional copy of the minor allele of rs16969968 (which increases daily cigarette consumption) in current smokers was associated with higher coffee consumption (0.16 cups per day, 95% CI: 0.11, 0.20), but only weak evidence for an association with tea consumption (0.04 cups per day, 95% CI: -0.01, 0.09). There was no clear evidence that rs16969968 was associated with coffee or tea consumption in never or former smokers or that the coffee-related variants were associated with cigarette consumption.Conclusions: Higher cigarette consumption causally increases coffee intake. This is consistent with faster metabolism of caffeine by smokers, but could also reflect a behavioural effect of smoking on coffee drinking.
Published: 2017

69. Investigating the causal effect of smoking on hay fever and asthma:a Mendelian randomization meta-analysis in the CARTA consortium

Author: Skaaby, Tea, Taylor, Amy E, Jacobsen, Rikke K, Paternoster, Lavinia, Thuesen, Betina H, Ahluwalia, Tarunveer S, Larsen, Sofus C, Zhou, Ang, Wong, Andrew, Gabrielsen, Maiken E, Bjørngaard, Johan H, Flexeder, Claudia, Männistö, Satu, Hardy, Rebecca, Kuh, Diana, Barry, Sarah J, Tang Møllehave, Line, Cerqueira, Charlotte, Friedrich, Nele, Bonten, Tobias N, Noordam, Raymond, Mook-Kanamori, Dennis O, Taube, Christian, Jessen, Leon E, McConnachie, Alex, Sattar, Naveed, Upton, Mark N, McSharry, Charles, Bønnelykke, Klaus, Bisgaard, Hans, Schulz, Holger, Strauch, Konstantin, Meitinger, Thomas, Peters, Annette, Grallert, Harald, Nohr, Ellen A, Kivimaki, Mika, Kumari, Meena, Völker, Uwe, Nauck, Matthias, Völzke, Henry, Power, Chris, Hyppönen, Elina, Hansen, Torben, Jørgensen, Torben, Pedersen, Oluf, Salomaa, Veikko, Grarup, Niels, Langhammer, Arnulf, Romundstad, Pål R, Skorpen, Frank, Kaprio, Jaakko, R Munafò, Marcus, Linneberg, Allan, Skaaby, Tea, Taylor, Amy E, Jacobsen, Rikke K, Paternoster, Lavinia, Thuesen, Betina H, Ahluwalia, Tarunveer S, Larsen, Sofus C, Zhou, Ang, Wong, Andrew, Gabrielsen, Maiken E, Bjørngaard, Johan H, Flexeder, Claudia, Männistö, Satu, Hardy, Rebecca, Kuh, Diana, Barry, Sarah J, Tang Møllehave, Line, Cerqueira, Charlotte, Friedrich, Nele, Bonten, Tobias N, Noordam, Raymond, Mook-Kanamori, Dennis O, Taube, Christian, Jessen, Leon E, McConnachie, Alex, Sattar, Naveed, Upton, Mark N, McSharry, Charles, Bønnelykke, Klaus, Bisgaard, Hans, Schulz, Holger, Strauch, Konstantin, Meitinger, Thomas, Peters, Annette, Grallert, Harald, Nohr, Ellen A, Kivimaki, Mika, Kumari, Meena, Völker, Uwe, Nauck, Matthias, Völzke, Henry, Power, Chris, Hyppönen, Elina, Hansen, Torben, Jørgensen, Torben, Pedersen, Oluf, Salomaa, Veikko, Grarup, Niels, Langhammer, Arnulf, Romundstad, Pål R, Skorpen, Frank, Kaprio, Jaakko, R Munafò, Marcus, and Linneberg, Allan
Abstract: Observational studies on smoking and risk of hay fever and asthma have shown inconsistent results. However, observational studies may be biased by confounding and reverse causation. Mendelian randomization uses genetic variants as markers of exposures to examine causal effects. We examined the causal effect of smoking on hay fever and asthma by using the smoking-associated single nucleotide polymorphism (SNP) rs16969968/rs1051730. We included 231,020 participants from 22 population-based studies. Observational analyses showed that current vs never smokers had lower risk of hay fever (odds ratio (OR) = 0·68, 95% confidence interval (CI): 0·61, 0·76; P < 0·001) and allergic sensitization (OR = 0·74, 95% CI: 0·64, 0·86; P < 0·001), but similar asthma risk (OR = 1·00, 95% CI: 0·91, 1·09; P = 0·967). Mendelian randomization analyses in current smokers showed a slightly lower risk of hay fever (OR = 0·958, 95% CI: 0·920, 0·998; P = 0·041), a lower risk of allergic sensitization (OR = 0·92, 95% CI: 0·84, 1·02; P = 0·117), but higher risk of asthma (OR = 1·06, 95% CI: 1·01, 1·11; P = 0·020) per smoking-increasing allele. Our results suggest that smoking may be causally related to a higher risk of asthma and a slightly lower risk of hay fever. However, the adverse events associated with smoking limit its clinical significance.
Published: 2017

70. Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Author: Zhou, Wei, primary, Nielsen, Jonas B., additional, Fritsche, Lars G., additional, Dey, Rounak, additional, Gabrielsen, Maiken E., additional, Wolford, Brooke N., additional, LeFaive, Jonathon, additional, VandeHaar, Peter, additional, Gagliano, Sarah A., additional, Gifford, Aliya, additional, Bastarache, Lisa A., additional, Wei, Wei-Qi, additional, Denny, Joshua C., additional, Lin, Maoxuan, additional, Hveem, Kristian, additional, Kang, Hyun Min, additional, Abecasis, Goncalo R., additional, Willer, Cristen J., additional, and Lee, Seunggeun, additional
Published: 2017
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71. Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium

Author: Skaaby, Tea, primary, Taylor, Amy E., additional, Jacobsen, Rikke K., additional, Paternoster, Lavinia, additional, Thuesen, Betina H., additional, Ahluwalia, Tarunveer S., additional, Larsen, Sofus C., additional, Zhou, Ang, additional, Wong, Andrew, additional, Gabrielsen, Maiken E., additional, Bjørngaard, Johan H., additional, Flexeder, Claudia, additional, Männistö, Satu, additional, Hardy, Rebecca, additional, Kuh, Diana, additional, Barry, Sarah J., additional, Tang Møllehave, Line, additional, Cerqueira, Charlotte, additional, Friedrich, Nele, additional, Bonten, Tobias N., additional, Noordam, Raymond, additional, Mook-Kanamori, Dennis O., additional, Taube, Christian, additional, Jessen, Leon E., additional, McConnachie, Alex, additional, Sattar, Naveed, additional, Upton, Mark N., additional, McSharry, Charles, additional, Bønnelykke, Klaus, additional, Bisgaard, Hans, additional, Schulz, Holger, additional, Strauch, Konstantin, additional, Meitinger, Thomas, additional, Peters, Annette, additional, Grallert, Harald, additional, Nohr, Ellen A., additional, Kivimaki, Mika, additional, Kumari, Meena, additional, Völker, Uwe, additional, Nauck, Matthias, additional, Völzke, Henry, additional, Power, Chris, additional, Hyppönen, Elina, additional, Hansen, Torben, additional, Jørgensen, Torben, additional, Pedersen, Oluf, additional, Salomaa, Veikko, additional, Grarup, Niels, additional, Langhammer, Arnulf, additional, Romundstad, Pål R., additional, Skorpen, Frank, additional, Kaprio, Jaakko, additional, R Munafò, Marcus, additional, and Linneberg, Allan, additional
Published: 2017
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72. Cigarette smoking increases coffee consumption: findings from a Mendelian randomisation analysis

Author: Bjørngaard, Johan H, primary, Nordestgaard, Ask Tybjærg, additional, Taylor, Amy E, additional, Treur, Jorien L, additional, Gabrielsen, Maiken E., additional, Munafò, Marcus R, additional, Nordestgaard, Børge Grønne, additional, Åsvold, Bjørn Olav, additional, Romundstad, Pål, additional, and Smith, George Davey, additional
Published: 2017
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73. A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

Author: de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjmain A. T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming-Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Boerwinkle, Eric, Beswick, Andrew, Psaty, Bruce M., Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Deleuze, Jean-François, Rich, Stephen S., van Hylckama Vlieg, Astrid, Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Almasy, Laura, Brody, Lawrence C., Auer, Paul L., Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., Mitchell, Braxton D., Ben-Shlomo, Yoav, Fornage, Myriam, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Blangero, John, Kooperberg, Charles, Desch, Karl C., Johnson, Andrew D., Sabater-Lleal, Maria, Lowenstein, Charles J., Smith, Nicholas L., and Morrison, Alanna C.
Abstract: •We identified 7 new genetic regions for factor VIII levels, 1 for von Willebrand factor levels, and 3 in a combined analysis.•Silencing B3GNT2and CD36reduced factor VIII release in vitro.Silencing B3GNT2, CD36, and PDIA3reduced von Willebrand factor release.
Published: 2024
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74. Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia

Author: Brenner, Darren R, Amos, Christopher I, Brhane, Yonathan, Timofeeva, Maria N, Caporaso, Neil, Wang, Yufei, Christiani, David C, Bickeböller, Heike, Yang, Ping, Albanes, Demetrius, Stevens, Victoria L, Gapstur, Susan, McKay, James, Boffetta, Paolo, Zaridze, David, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Krokan, Hans E, Skorpen, Frank, Gabrielsen, Maiken E, Vatten, Lars, Njølstad, Inger, Chen, Chu, Goodman, Gary, Lathrop, Mark, Vooder, Tõnu, Välk, Kristjan, Nelis, Mari, Metspalu, Andres, Broderick, Peter, Eisen, Timothy, Wu, Xifeng, Zhang, Di, Chen, Wei, Spitz, Margaret R, Wei, Yongyue, Su, Li, Xie, Dong, She, Jun, Matsuo, Keitaro, Matsuda, Fumihiko, Ito, Hidemi, Risch, Angela, Heinrich, Joachim, Rosenberger, Albert, Muley, Thomas, Dienemann, Hendrik, Field, John K, Raji, Olaide, Chen, Ying, Gosney, John, Liloglou, Triantafillos, Davies, Michael P A, Marcus, Michael, McLaughlin, John, Orlow, Irene, Han, Younghun, Li, Yafang, Zong, Xuchen, Johansson, Mattias, Liu, Geoffrey, Tworoger, Shelley S, Le Marchand, Loic, Henderson, Brian E, Wilkens, Lynne R, Dai, Juncheng, Shen, Hongbing, Houlston, Richard S, Landi, Maria T, Brennan, Paul, Hung, Rayjean J, Brenner, Darren R, Amos, Christopher I, Brhane, Yonathan, Timofeeva, Maria N, Caporaso, Neil, Wang, Yufei, Christiani, David C, Bickeböller, Heike, Yang, Ping, Albanes, Demetrius, Stevens, Victoria L, Gapstur, Susan, McKay, James, Boffetta, Paolo, Zaridze, David, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Krokan, Hans E, Skorpen, Frank, Gabrielsen, Maiken E, Vatten, Lars, Njølstad, Inger, Chen, Chu, Goodman, Gary, Lathrop, Mark, Vooder, Tõnu, Välk, Kristjan, Nelis, Mari, Metspalu, Andres, Broderick, Peter, Eisen, Timothy, Wu, Xifeng, Zhang, Di, Chen, Wei, Spitz, Margaret R, Wei, Yongyue, Su, Li, Xie, Dong, She, Jun, Matsuo, Keitaro, Matsuda, Fumihiko, Ito, Hidemi, Risch, Angela, Heinrich, Joachim, Rosenberger, Albert, Muley, Thomas, Dienemann, Hendrik, Field, John K, Raji, Olaide, Chen, Ying, Gosney, John, Liloglou, Triantafillos, Davies, Michael P A, Marcus, Michael, McLaughlin, John, Orlow, Irene, Han, Younghun, Li, Yafang, Zong, Xuchen, Johansson, Mattias, Liu, Geoffrey, Tworoger, Shelley S, Le Marchand, Loic, Henderson, Brian E, Wilkens, Lynne R, Dai, Juncheng, Shen, Hongbing, Houlston, Richard S, Landi, Maria T, Brennan, Paul, and Hung, Rayjean J
Abstract: Large-scale genome-wide association studies (GWAS) have likely uncovered all common variants at the GWAS significance level. Additional variants within the suggestive range (0.0001> P > 5×10−8) are, however, still of interest for identifying causal associations. This analysis aimed to apply novel variant prioritization approaches to identify additional lung cancer variants that may not reach the GWAS level. Effects were combined across studies with a total of 33456 controls and 6756 adenocarcinoma (AC; 13 studies), 5061 squamous cell carcinoma (SCC; 12 studies) and 2216 small cell lung cancer cases (9 studies). Based on prior information such as variant physical properties and functional significance, we applied stratified false discovery rates, hierarchical modeling and Bayesian false discovery probabilities for variant prioritization. We conducted a fine mapping analysis as validation of our methods by examining top-ranking novel variants in six independent populations with a total of 3128 cases and 2966 controls. Three novel loci in the suggestive range were identified based on our Bayesian framework analyses: KCNIP4 at 4p15.2 (rs6448050, P = 4.6×10−7) and MTMR2 at 11q21 (rs10501831, P = 3.1×10−6) with SCC, as well as GAREM at 18q12.1 (rs11662168, P = 3.4×10−7) with AC. Use of our prioritization methods validated two of the top three loci associated with SCC (P = 1.05×10−4 for KCNIP4, represented by rs9799795) and AC (P = 2.16×10−4 for GAREM, represented by rs3786309) in the independent fine mapping populations. This study highlights the utility of using prior functional data for sequence variants in prioritization analyses to search for robust signals in the suggestive range.
Published: 2015
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75. Effect of Smoking on Blood Pressure and Resting Heart Rate:A Mendelian Randomisation Meta-Analysis in the CARTA Consortium

Author: Linneberg, Allan, Jacobsen, Rikke K, Skaaby, Tea, Taylor, Amy E, Fluharty, Meg E, Jeppesen, Jørgen L, Bjørngaard, Johan H, Åsvold, Bjørn O, Gabrielsen, Maiken E, Campbell, Archie, Marioni, Riccardo E, Kumari, Meena, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Ahluwalia, Tarun Veer Singh, Wannamethee, S Goya, Lahti, Jari, Räikkönen, Katri, Palotie, Aarno, Wong, Andrew, Dalgård, Christine, Ford, Ian, Ben-Shlomo, Yoav, Christiansen, Lene, Kyvik, Kirsten O, Kuh, Diana, Eriksson, Johan G, Whincup, Peter H, Mbarek, Hamdi, de Geus, Eco J C, Vink, Jacqueline M, Boomsma, Dorret I, Davey Smith, George, Lawlor, Debbie A, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Jukema, J Wouter, Power, Chris, Hyppönen, Elina, Preisig, Martin, Waeber, Gerard, Vollenweider, Peter, Korhonen, Tellervo, Laatikainen, Tiina, Salomaa, Veikko, Kaprio, Jaakko, Kivimäki, Mika, Smith, Blair H, Hayward, Caroline, Sørensen, Thorkild I A, Thuesen, Betina H, Sattar, Naveed, Morris, Richard W, Romundstad, Pål R, Munafò, Marcus R, Jarvelin, Marjo-Riitta, Husemoen, Lise Lotte N, Linneberg, Allan, Jacobsen, Rikke K, Skaaby, Tea, Taylor, Amy E, Fluharty, Meg E, Jeppesen, Jørgen L, Bjørngaard, Johan H, Åsvold, Bjørn O, Gabrielsen, Maiken E, Campbell, Archie, Marioni, Riccardo E, Kumari, Meena, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Ahluwalia, Tarun Veer Singh, Wannamethee, S Goya, Lahti, Jari, Räikkönen, Katri, Palotie, Aarno, Wong, Andrew, Dalgård, Christine, Ford, Ian, Ben-Shlomo, Yoav, Christiansen, Lene, Kyvik, Kirsten O, Kuh, Diana, Eriksson, Johan G, Whincup, Peter H, Mbarek, Hamdi, de Geus, Eco J C, Vink, Jacqueline M, Boomsma, Dorret I, Davey Smith, George, Lawlor, Debbie A, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Jukema, J Wouter, Power, Chris, Hyppönen, Elina, Preisig, Martin, Waeber, Gerard, Vollenweider, Peter, Korhonen, Tellervo, Laatikainen, Tiina, Salomaa, Veikko, Kaprio, Jaakko, Kivimäki, Mika, Smith, Blair H, Hayward, Caroline, Sørensen, Thorkild I A, Thuesen, Betina H, Sattar, Naveed, Morris, Richard W, Romundstad, Pål R, Munafò, Marcus R, Jarvelin, Marjo-Riitta, and Husemoen, Lise Lotte N
Abstract: BACKGROUND: -Smoking is an important cardiovascular disease risk factor, but the mechanisms linking smoking to blood pressure are poorly understood.METHODS AND RESULTS: -Data on 141,317 participants (62,666 never, 40,669 former, 37,982 current smokers) from 23 population-based studies were included in observational and Mendelian randomisation (MR) meta-analyses of the associations of smoking status and smoking heaviness with systolic and diastolic blood pressure (SBP, DBP), hypertension, and resting heart rate. For the MR analyses, a genetic variant rs16969968/rs1051730 was used as a proxy for smoking heaviness in current smokers. In observational analyses, current as compared with never smoking was associated with lower SBP, DBP, and lower hypertension risk, but with higher resting heart rate. In observational analyses amongst current smokers, one cigarette/day higher level of smoking heaviness was associated with higher (0.21 beats/minute; 95% CI 0.19; 0.24) resting heart rate, and slightly higher DBP (0.05 mmHg; 95% CI 0.02; 0.08) and SBP (0.08 mmHg; 95% CI 0.03; 0.13). However, in MR analyses amongst current smokers, while each smoking increasing allele of rs16969968/rs1051730 was associated with higher resting heart rate (0.36 beats/minute/allele; 95% CI 0.18; 0.54), there was no strong association with DBP, SBP, or hypertension. This would suggest a 7 beats/minute higher heart rate in those who smoke 20 cigarettes/day.CONCLUSIONS: -This MR meta-analysis supports a causal association of smoking heaviness with higher level of resting heart rate, but not with blood pressure. These findings suggest that part of the cardiovascular risk of smoking may operate through increasing resting heart rate.
Published: 2015

76. Effect of Smoking on Blood Pressure and Resting Heart Rate

Author: Linneberg, Allan, primary, Jacobsen, Rikke K., additional, Skaaby, Tea, additional, Taylor, Amy E., additional, Fluharty, Meg E., additional, Jeppesen, Jørgen L., additional, Bjorngaard, Johan H., additional, Åsvold, Bjørn O., additional, Gabrielsen, Maiken E., additional, Campbell, Archie, additional, Marioni, Riccardo E., additional, Kumari, Meena, additional, Marques-Vidal, Pedro, additional, Kaakinen, Marika, additional, Cavadino, Alana, additional, Postmus, Iris, additional, Ahluwalia, Tarunveer S., additional, Wannamethee, S. Goya, additional, Lahti, Jari, additional, Räikkönen, Katri, additional, Palotie, Aarno, additional, Wong, Andrew, additional, Dalgård, Christine, additional, Ford, Ian, additional, Ben-Shlomo, Yoav, additional, Christiansen, Lene, additional, Kyvik, Kirsten O., additional, Kuh, Diana, additional, Eriksson, Johan G., additional, Whincup, Peter H., additional, Mbarek, Hamdi, additional, de Geus, Eco J.C., additional, Vink, Jacqueline M., additional, Boomsma, Dorret I., additional, Smith, George Davey, additional, Lawlor, Debbie A., additional, Kisialiou, Aliaksei, additional, McConnachie, Alex, additional, Padmanabhan, Sandosh, additional, Jukema, J. Wouter, additional, Power, Chris, additional, Hyppönen, Elina, additional, Preisig, Martin, additional, Waeber, Gerard, additional, Vollenweider, Peter, additional, Korhonen, Tellervo, additional, Laatikainen, Tiina, additional, Salomaa, Veikko, additional, Kaprio, Jaakko, additional, Kivimaki, Mika, additional, Smith, Blair H., additional, Hayward, Caroline, additional, Sørensen, Thorkild I.A., additional, Thuesen, Betina H., additional, Sattar, Naveed, additional, Morris, Richard W., additional, Romundstad, Pål R., additional, Munafò, Marcus R., additional, Jarvelin, Marjo-Riitta, additional, and Husemoen, Lise Lotte N., additional
Published: 2015
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77. Stratification by Smoking Status Reveals an Association of CHRNA5-A3-B4 Genotype with Body Mass Index in Never Smokers

Author: University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Institute of Behavioural Sciences, University of Helsinki, Clinicum, University of Helsinki, Department of Public Health (-2009), University of Helsinki, Department of Public Health, Taylor, Amy E., Morris, Richard W., Fluharty, Meg E., Bjorngaard, Johan H., Asvold, Bjorn Olav, Gabrielsen, Maiken E., Campbell, Archie, Marioni, Riccardo, Kumari, Meena, Hallfors, Jenni, Mannisto, Satu, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Husemoen, Lise Lotte N., Skaaby, Tea, Ahluwalia, Tarunveer S., Treur, Jorien L., Willemsen, Gonneke, Dale, Caroline, Wannamethee, S. Goya, Lahti, Jari, Palotie, Aarno, Räikkönen, Katri, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Wong, Andrew, Dalgard, Christine, Paternoster, Lavinia, Ben-Shlomo, Yoav, Tyrrell, Jessica, Horwood, John, Fergusson, David M., Kennedy, Martin A., Frayling, Tim, Nohr, Ellen A., Christiansen, Lene, Kyvik, Kirsten Ohm, Kuh, Diana, Watt, Graham, Eriksson, Johan, Whincup, Peter H., Vink, Jacqueline M., Boomsma, Dorret I., Smith, George Davey, Lawlor, Debbie, Linneberg, Allan, Ford, Ian, Jukema, J. Wouter, Power, Christine, Hypponen, Elina, Jarvelin, Marjo-Riitta, Preisig, Martin, Borodulin, Katja, Kaprio, Jaakko, Kivimaki, Mika, Smith, Blair H., Hayward, Caroline, Romundstad, Pal R., Sorensen, Thorkild I. A., Munafo, Marcus R., Sattar, Naveed, University of Helsinki, Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Institute of Behavioural Sciences, University of Helsinki, Clinicum, University of Helsinki, Department of Public Health (-2009), University of Helsinki, Department of Public Health, Taylor, Amy E., Morris, Richard W., Fluharty, Meg E., Bjorngaard, Johan H., Asvold, Bjorn Olav, Gabrielsen, Maiken E., Campbell, Archie, Marioni, Riccardo, Kumari, Meena, Hallfors, Jenni, Mannisto, Satu, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Husemoen, Lise Lotte N., Skaaby, Tea, Ahluwalia, Tarunveer S., Treur, Jorien L., Willemsen, Gonneke, Dale, Caroline, Wannamethee, S. Goya, Lahti, Jari, Palotie, Aarno, Räikkönen, Katri, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Wong, Andrew, Dalgard, Christine, Paternoster, Lavinia, Ben-Shlomo, Yoav, Tyrrell, Jessica, Horwood, John, Fergusson, David M., Kennedy, Martin A., Frayling, Tim, Nohr, Ellen A., Christiansen, Lene, Kyvik, Kirsten Ohm, Kuh, Diana, Watt, Graham, Eriksson, Johan, Whincup, Peter H., Vink, Jacqueline M., Boomsma, Dorret I., Smith, George Davey, Lawlor, Debbie, Linneberg, Allan, Ford, Ian, Jukema, J. Wouter, Power, Christine, Hypponen, Elina, Jarvelin, Marjo-Riitta, Preisig, Martin, Borodulin, Katja, Kaprio, Jaakko, Kivimaki, Mika, Smith, Blair H., Hayward, Caroline, Romundstad, Pal R., Sorensen, Thorkild I. A., Munafo, Marcus R., and Sattar, Naveed
Published: 2014

78. Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers

Author: Taylor, Amy E, Morris, Richard W, Fluharty, Meg E, Bjorngaard, Johan H, Åsvold, Bjørn Olav, Gabrielsen, Maiken E, Campbell, Archie, Marioni, Riccardo, Kumari, Meena, Hällfors, Jenni, Männistö, Satu, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Husemoen, Lise Lotte N, Skaaby, Tea, Ahluwalia, Tarun Veer Singh, Treur, Jorien L, Willemsen, Gonneke, Dale, Caroline, Wannamethee, S Goya, Lahti, Jari, Palotie, Aarno, Räikkönen, Katri, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Wong, Andrew, Dalgård, Christine, Paternoster, Lavinia, Ben-Shlomo, Yoav, Tyrrell, Jessica, Horwood, John, Fergusson, David M, Kennedy, Martin A, Frayling, Tim, Nohr, Ellen A, Christiansen, Lene, Ohm Kyvik, Kirsten, Kuh, Diana, Watt, Graham, Eriksson, Johan, Whincup, Peter H, Vink, Jacqueline M, Boomsma, Dorret I, Davey Smith, George, Lawlor, Debbie, Linneberg, Allan, Ford, Ian, Jukema, J Wouter, Power, Christine, Hyppönen, Elina, Jarvelin, Marjo-Riitta, Preisig, Martin, Borodulin, Katja, Kaprio, Jaakko, Kivimaki, Mika, Smith, Blair H, Hayward, Caroline, Romundstad, Pål R, Sørensen, Thorkild I A, Munafò, Marcus R, Sattar, Naveed, Taylor, Amy E, Morris, Richard W, Fluharty, Meg E, Bjorngaard, Johan H, Åsvold, Bjørn Olav, Gabrielsen, Maiken E, Campbell, Archie, Marioni, Riccardo, Kumari, Meena, Hällfors, Jenni, Männistö, Satu, Marques-Vidal, Pedro, Kaakinen, Marika, Cavadino, Alana, Postmus, Iris, Husemoen, Lise Lotte N, Skaaby, Tea, Ahluwalia, Tarun Veer Singh, Treur, Jorien L, Willemsen, Gonneke, Dale, Caroline, Wannamethee, S Goya, Lahti, Jari, Palotie, Aarno, Räikkönen, Katri, Kisialiou, Aliaksei, McConnachie, Alex, Padmanabhan, Sandosh, Wong, Andrew, Dalgård, Christine, Paternoster, Lavinia, Ben-Shlomo, Yoav, Tyrrell, Jessica, Horwood, John, Fergusson, David M, Kennedy, Martin A, Frayling, Tim, Nohr, Ellen A, Christiansen, Lene, Ohm Kyvik, Kirsten, Kuh, Diana, Watt, Graham, Eriksson, Johan, Whincup, Peter H, Vink, Jacqueline M, Boomsma, Dorret I, Davey Smith, George, Lawlor, Debbie, Linneberg, Allan, Ford, Ian, Jukema, J Wouter, Power, Christine, Hyppönen, Elina, Jarvelin, Marjo-Riitta, Preisig, Martin, Borodulin, Katja, Kaprio, Jaakko, Kivimaki, Mika, Smith, Blair H, Hayward, Caroline, Romundstad, Pål R, Sørensen, Thorkild I A, Munafò, Marcus R, and Sattar, Naveed
Abstract: We previously used a single nucleotide polymorphism (SNP) in the CHRNA5-A3-B4 gene cluster associated with heaviness of smoking within smokers to confirm the causal effect of smoking in reducing body mass index (BMI) in a Mendelian randomisation analysis. While seeking to extend these findings in a larger sample we found that this SNP is associated with 0.74% lower body mass index (BMI) per minor allele in current smokers (95% CI -0.97 to -0.51, P = 2.00 × 10(-10)), but also unexpectedly found that it was associated with 0.35% higher BMI in never smokers (95% CI +0.18 to +0.52, P = 6.38 × 10(-5)). An interaction test confirmed that these estimates differed from each other (P = 4.95 × 10(-13)). This difference in effects suggests the variant influences BMI both via pathways unrelated to smoking, and via the weight-reducing effects of smoking. It would therefore be essentially undetectable in an unstratified genome-wide association study of BMI, given the opposite association with BMI in never and current smokers. This demonstrates that novel associations may be obscured by hidden population sub-structure. Stratification on well-characterized environmental factors known to impact on health outcomes may therefore reveal novel genetic associations.
Published: 2014

79. Stratification by Smoking Status Reveals an Association of CHRNA5-A3-B4 Genotype with Body Mass Index in Never Smokers

Author: Taylor, Amy E., primary, Morris, Richard W., additional, Fluharty, Meg E., additional, Bjorngaard, Johan H., additional, Åsvold, Bjørn Olav, additional, Gabrielsen, Maiken E., additional, Campbell, Archie, additional, Marioni, Riccardo, additional, Kumari, Meena, additional, Hällfors, Jenni, additional, Männistö, Satu, additional, Marques-Vidal, Pedro, additional, Kaakinen, Marika, additional, Cavadino, Alana, additional, Postmus, Iris, additional, Husemoen, Lise Lotte N., additional, Skaaby, Tea, additional, Ahluwalia, Tarunveer S., additional, Treur, Jorien L., additional, Willemsen, Gonneke, additional, Dale, Caroline, additional, Wannamethee, S. Goya, additional, Lahti, Jari, additional, Palotie, Aarno, additional, Räikkönen, Katri, additional, Kisialiou, Aliaksei, additional, McConnachie, Alex, additional, Padmanabhan, Sandosh, additional, Wong, Andrew, additional, Dalgård, Christine, additional, Paternoster, Lavinia, additional, Ben-Shlomo, Yoav, additional, Tyrrell, Jessica, additional, Horwood, John, additional, Fergusson, David M., additional, Kennedy, Martin A., additional, Frayling, Tim, additional, Nohr, Ellen A., additional, Christiansen, Lene, additional, Ohm Kyvik, Kirsten, additional, Kuh, Diana, additional, Watt, Graham, additional, Eriksson, Johan, additional, Whincup, Peter H., additional, Vink, Jacqueline M., additional, Boomsma, Dorret I., additional, Davey Smith, George, additional, Lawlor, Debbie, additional, Linneberg, Allan, additional, Ford, Ian, additional, Jukema, J. Wouter, additional, Power, Christine, additional, Hyppönen, Elina, additional, Jarvelin, Marjo-Riitta, additional, Preisig, Martin, additional, Borodulin, Katja, additional, Kaprio, Jaakko, additional, Kivimaki, Mika, additional, Smith, Blair H., additional, Hayward, Caroline, additional, Romundstad, Pål R., additional, Sørensen, Thorkild I. A., additional, Munafò, Marcus R., additional, and Sattar, Naveed, additional
Published: 2014
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80. Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway

Author: Gabrielsen, Maiken E, primary, Romundstad, Pål, additional, Langhammer, Arnulf, additional, Krokan, Hans E, additional, and Skorpen, Frank, additional
Published: 2013
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81. MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.

Author: Surakka, Ida, Fritsche, Lars G., Zhou, Wei, Backman, Joshua, Kosmicki, Jack A., Lu, Haocheng, Brumpton, Ben, Nielsen, Jonas B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Wolford, Brooke, Graham, Sarah E., Chen, Y. Eugene, Lee, Seunggeun, Kang, Hyun Min, Langhammer, Arnulf, Forsmo, Siri, Åsvold, Bjørn O., Styrkarsdottir, Unnur, and Holm, Hilma
Subjects: BONE density, HEEL bone, HUMAN genome, GENE frequency, INDIVIDUALIZED medicine, FOREARM
Abstract: A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the discovery cohort for loss-of-function (LoF) mutations by sequencing a subset of the Nord-Trøndelag Health Study, followed by imputation in the remaining sample (N = 19,705), and identified ten known BMD loci. However, one previously unreported variant, LoF mutation in MEPE, p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decreased ultradistal forearm BMD (P-value = 2.1 × 10−18), and increased osteoporosis (P-value = 4.2 × 10−5) and fracture risk (P-value = 1.6 × 10−5). The MEPE LoF association with BMD and fractures was further evaluated in 279,435 UK (MAF = 0.05%, heel bone estimated BMD P-value = 1.2 × 10−16, any fracture P-value = 0.05) and 375,984 Icelandic samples (MAF = 0.03%, arm BMD P-value = 0.12, forearm fracture P-value = 0.005). Screening for the MEPE LoF mutations before adulthood could potentially prevent osteoporosis and fractures due to the lifelong effect on BMD observed in the study. A key implication for precision medicine is that high-impact functional variants missing from the publicly available cosmopolitan panels could be clinically more relevant than polygenic risk scores. Bone mineral density (BMD) is associated with fracture risk and many genetic loci with small effect sizes have been discovered by genome-wide association studies (GWAS). Here, the authors discover a large-effect rare loss-of-function genetic variant for BMD in the MEPE gene in the Norwegian HUNT study which replicates in the UK Biobank. [ABSTRACT FROM AUTHOR]
Published: 2020
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82. Interleukin-6 Signaling Effects on Ischemic Stroke and Other Cardiovascular Outcomes

Author: Georgakis, Marios K., Malik, Rainer, Gill, Dipender, Franceschini, Nora, Sudlow, Cathie L. M., Dichgans, Martin, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Damrauer, Scott M., Natarajan, Pradeep, Klarin, Derek, de Vries, Paul S., SabaterLleal, Maria, Huffman, Jennifer E., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O’Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, JohnBjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, Trégouët, David-Alexandre, Smith, Nicholas L., Benjamin, Emelia, Dehghan, Abbas, Ahluwalia, Tarunveer Singh, Meigs, James, Tracy, Russell, Alizadeh, Behrooz Z., Ligthart, Symen, Bis, Josh, Eiriksdottir, Gudny, Gross, Myron, Rainer, Alex, Snieder, Harold, Wilson, James G., Dupuis, Josee, Prins, Bram, Vaso, Urmo, Stathopoulou, Maria, Franke, Lude, Lehtimaki, Terho, Koenig, Wolfgang, Jamshidi, Yalda, Siest, Sophie, Abbasi, Ali, Uitterlinden, Andre G., Abdollahi, Mohammadreza, Schnabel, Renate, Schick, Ursula M., Nolte, Ilja M., Kraja, Aldi, Hsu, Yi-Hsiang, Tylee, Daniel S., Zwicker, Alyson, Uher, Rudolf, Davey-Smith, George, Morrison, Alanna C., Hicks, Andrew, van Duijn, Cornelia M., Ward-Caviness, Cavin, Boerwinkle, Eric, Rotter, J., Rice, Ken, Lange, Leslie, Perola, Markus, de Geus, Eco, Morris, Andrew P., Makela, Kari Matti, Stacey, David, Eriksson, Johan, Frayling, Tim M., and Slagboom, Eline P.
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83. Genome-wide risk prediction of common diseases across ancestries in one million people

Author: Nina Mars, Sini Kerminen, Yen-Chen Anne Feng, Masahiro Kanai, Kristi Läll, Thomas, Laurent F., Anne Heidi Skogholt, Pietro della Briotta Parolo, Benjamin Neale, Smoller, Jordan W., Gabrielsen, Maiken E., Kristian Hveem, Reedik Mägi, Koichi Matsuda, Yukinori Okada, Matti Pirinen, Aarno Palotie, Andrea Ganna, Martin, Alicia R., Samuli Ripatti, Faculty Common Matters (Faculty of Medicine), Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Statistical and population genetics, Complex Disease Genetics, Centre of Excellence in Complex Disease Genetics, Helsinki Institute for Information Technology, Department of Mathematics and Statistics, Department of Public Health, Research Programs Unit, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Data Science Genetic Epidemiology Lab, Samuli Olli Ripatti / Principal Investigator, and Faculty Common Matters (Faculty of Social Sciences)
Subjects: Genetics, 1184 Genetics, developmental biology, physiology, 3111 Biomedicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)
Abstract: Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast and prostate cancer, we performed cross-ancestry evaluation of genome-wide PRSs in six biobanks in Europe, the United States, and Asia. We studied transferability of these highly polygenic, genome-wide PRSs across global ancestries, within European populations with different health-care systems, and local population substructures in a population isolate. All four PRSs had similar accuracy across European and Asian populations, with poorer transferability in the smaller group of individuals of African ancestry. The PRSs had highly similar effect sizes in different populations of European ancestry, and in early- and late-settlement regions with different recent population bottlenecks in Finland. Comparing genome-wide PRSs to PRSs containing a smaller number of variants, the highly polygenic, genome-wide PRSs generally displayed higher effect sizes and better transferability across global ancestries. Our findings indicate that in the populations investigated, the current genome-wide polygenic scores for common diseases have potential for clinical utility within different health-care settings for individuals of European ancestry, but that the utility in individuals of African ancestry is currently much lower.

84. Publisher Correction : Stroke genetics informs drug discovery and risk prediction across ancestries

Author: Mishra, Aniket, Malik, Rainer, He, Yunye, Rosand, Jonathan, Sabatine, Marc S, Sacco, Ralph L, Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L, Schmidt, Carsten O, Georgakis, Marios K, Shimizu, Atsushi, Smith, Nicholas L, Sloane, Kelly L, Sutoh, Yoichi, Sun, Yan V, Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P, Tiwari, Hemant K, Caro, Ilana, Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S, Wiggins, Kerri L, Wennberg, Patrik, Woo, Daniel, Krebs, Kristi, Wilson, Peter W F, Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Consortium, COMPASS, Consortium, INVENT, Initiative, Dutch Parelsnoer, Biobank, Estonian, Consortium, PRECISE4Q, Consortium, FinnGen, Liaw, Yi-Ching, Network, NINDS Stroke Genetics, Consortium, MEGASTROKE, Consortium, SIREN, Group, China Kadoorie Biobank Collaborative, Program, VA Million Veteran, Consortium, International Stroke Genetics, Japan, Biobank, Consortium, CHARGE, Consortium, GIGASTROKE, Millwood, Iona Y, Vaura, Felix C, Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J, Jukema, J Wouter, Rissanen, Ina L, Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M M, Lin, Kuang, Irvin, Marguerite R, Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A, Rundek, Tatjana, Worrall, Bradford B, Lathrop, G Mark, Riaz, Moeen, Simonsick, Eleanor M, Winsvold, Bendik Slagsvold, Kõrv, Janika, França, Paulo H C, Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas G., Haeusler, Karl Georg, Ruigrok, Ynte M, Heuschmann, Peter Ulrich, Srinivasasainagendra, Vinodh, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M, Chasman, Daniel I, Rotter, Jerome I, Anderson, Christopher D, Zwart, John-Anker, Niiranen, Teemu J, Parodi, Livia, Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G, Ruff, Christian T, Owolabi, Mayowa O, Huffman, Jennifer E, Milani, Lili, Kamatani, Yoichiro, Hachiya, Tsuyoshi, Bae, Hee-Joon, Dichgans, Martin, Debette, Stephanie, Chauhan, Ganesh, Chong, Michael R, Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V, Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Jürgenson, Tuuli, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L, Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J, Lewis, Adam J, Judy, Renae L, Ago, Tetsuro, Amouyel, Philippe, Namba, Shinichi, Armstrong, Nicole D, Bakker, Mark K, Bartz, Traci M, Bennett, David A, Bis, Joshua C, Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M, Cho, Kelly, Posner, Daniel C, Chen, Zhengming, Cruchaga, Carlos, Cole, John W, de Jager, Phil L, de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E, Geerlings, Mirjam I, Gasca, Natalie C, Gudnason, Vilmundur, Kamanu, Frederick K, Hata, Jun, He, Jing, Heath, Alicia K, Ho, Yuk-Lam, Havulinna, Aki S, Hopewell, Jemma C, Hyacinth, Hyacinth I, Inouye, Michael, Jacob, Mina A, Jeon, Christina E, Koido, Masaru, Jern, Christina, Kamouchi, Masahiro, Keene, Keith L, Kitazono, Takanari, Kittner, Steven J, Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J, Lee, Keon-Joo, Le Grand, Quentin, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S, Marston, Nicholas A, Meitinger, Thomas, Mitchell, Braxton D, Montellano, Felipe A, Morisaki, Takayuki, Shi, Mingyang, Mosley, Thomas H, Nalls, Mike A, Nordestgaard, Børge G, O'Donnell, Martin J, Okada, Yukinori, Onland-Moret, N Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M, Rich, Stephen S, Bis, Joshua C, Lee, Jin-Moo, Cheng, Yu-Ching, Meschia, James F, Chen, Wei Min, Sale, Michèle M, Zonderman, Alan B, Evans, Michele K, Wilson, James G, Correa, Adolfo, Traylor, Matthew, Lewis, Cathryn M, Carty, Cara L, Reiner, Alexander, Haessler, Jeffrey, Langefeld, Carl D, Gottesman, Rebecca F, Yaffe, Kristine, Liu, Yong Mei, Kooperberg, Charles, Lange, Leslie A, Furie, Karen L, Arnett, Donna K, Benavente, Oscar R, Grewal, Raji P, Peddareddygari, Leema Reddy, Hveem, Kristian, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Brumpton, Ben M, Suchon, Pierre, Chen, Ming-Huei, Frazer, Kelly A, Turman, Constance, Germain, Marine, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Pankratz, Nathan, Jackson, Rebecca D, Nielsen, Jonas B, Giulianini, Franco, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Bammler, Theo K, McCauley, Bryan M, Taylor, Kent D, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean-François, O'Donnell, Chris J, Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R, Heit, John A, Tang, Weihong, Morange, Pierre-Emmanuel, Johnson, Andrew D, Kabrhel, Christopher, van Dijk, Ewoud J, Koudstaal, Peter J, Luijckx, Gert-Jan, Nederkoorn, Paul J, van Oostenbrugge, Robert J, Visser, Marieke C, Wermer, Marieke J H, Kappelle, L Jaap, Esko, Tõnu, Metspalu, Andres, Mägi, Reedik, Nelis, Mari, Irvin, Marguerite R, de Leeuw, Frank-Erik, Levi, Christopher R, Maguire, Jane, Jiménez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie L M, Rannikmäe, Kristiina, Schmidt, Reinhold, Slowik, Agnieszka, Pera, Joanna, Thijs, Vincent N S, Lindgren, Arne G, Ilinca, Andreea, Melander, Olle, Engström, Gunnar, Rexrode, Kathryn M, Rothwell, Peter M, Stanne, Tara M, Johnson, Julie A, Danesh, John, Butterworth, Adam S, Heitsch, Laura, Boncoraglio, Giorgio B, Kubo, Michiaki, Pezzini, Alessandro, Rolfs, Arndt, Giese, Anne-Katrin, Weir, David, Ross, Owen A, Lemmons, Robin, Soderholm, Martin, Cushman, Mary, Jood, Katarina, McDonough, Caitrin W, Bell, Steven, Linkohr, Birgit, Lee, Tsong-Hai, Putaala, Jukka, Anderson, Christopher D, Lopez, Oscar L, Jian, Xueqiu, Schminke, Ulf, Cullell, Natalia, Delgado, Pilar, Ibañez, Laura, Krupinski, Jerzy, Lioutas, Vasileios, Matsuda, Koichi, Montaner, Joan, Muiño, Elena, Roquer, Jaume, Sarnowski, Chloe, Sattar, Naveed, Sibolt, Gerli, Teumer, Alexander, Rutten-Jacobs, Loes, Kanai, Masahiro, Gretarsdottir, Solveig, Rost, Natalia S, Yusuf, Salim, Almgren, Peter, Ay, Hakan, Bevan, Steve, Brown, Robert D, Carrera, Caty, Buring, Julie E, Chen, Wei-Min, Cotlarciuc, Ioana, de Bakker, Paul I W, DeStefano, Anita L, den Hoed, Marcel, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gustafsson, Stefan, Hassan, Ahamad, Holliday, Elizabeth G, Howard, George, Hsu, Fang-Chi, Ingelsson, Erik, Harris, Tamara B, Kissela, Brett M, Kleindorfer, Dawn O, Langenberg, Claudia, Lemmens, Robin, Leys, Didier, Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K, McArdle, Patrick F, Pulit, Sara L, Rice, Kenneth, Sakaue, Saori, Sapkota, Bishwa R, Tanislav, Christian, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Amin, Najaf, Aparicio, Hugo J, Attia, John, Beiser, Alexa S, Berr, Claudine, Bustamante, Mariana, Caso, Valeria, Choi, Seung Hoan, Chowhan, Ayesha, Dartigues, Jean-François, Delavaran, Hossein, Dörr, Marcus, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Hozawa, Atsushi, Ingelsson, Martin, Iwasaki, Motoki, Kaffashian, Sara, Kalra, Lalit, Kjartansson, Olafur, Kloss, Manja, Labovitz, Daniel L, Laurie, Cathy C, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Makoto, Hirata, Minegishi, Naoko, Morris, Andrew P, Müller-Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Pedersen, Nancy L, Perola, Markus, Jousilahti, Pekka, Pileggi, Silvana, Rabionet, Raquel, Riba-Llena, Iolanda, Ribasés, Marta, Romero, Jose R, Rudd, Anthony G, Sarin, Antti-Pekka, Sarju, Ralhan, Satoh, Mamoru, Sawada, Norie, Sigurdsson, Ásgeir, Smith, Albert, Stine, O Colin, Stott, David J, Strauch, Konstantin, Takai, Takako, Tanaka, Hideo, Touze, Emmanuel, Tsugane, Shoichiro, Uitterlinden, Andre G, Valdimarsson, Einar M, van der Lee, Sven J, Wakai, Kenji, Williams, Stephen R, Wolfe, Charles D A, Wong, Quenna, Yamaji, Taiki, Sanghera, Dharambir K, Stefansson, Kari, Martinez-Majander, Nicolas, Sobue, Kenji, Soriano-Tárraga, Carolina, Völzke, Henry, Akpa, Onoja, Sarfo, Fred S, Akpalu, Albert, Obiako, Reginald, Wahab, Kolawole, Osaigbovo, Godwin, Owolabi, Lukman, Komolafe, Morenikeji, Jenkins, Carolyn, Arulogun, Oyedunni, Ogbole, Godwin, Adeoye, Abiodun M, Akinyemi, Joshua, Agunloye, Atinuke, Fakunle, Adekunle G, Uvere, Ezinne, Olalere, Abimbola, Adebajo, Olayinka J, Chen, Junshi, Clarke, Robert, Collins, Rory, Guo, Yu, Wang, Chen, Lv, Jun, Peto, Richard, Chen, Yiping, Fairhurst-Hunter, Zammy, Hill, Michael, Pozarickij, Alfred, Schmidt, Dan, Stevens, Becky, Turnbull, Iain, Yu, Canqing, Le Grand, Quentin, Ferreira, Leslie E, Nagai, Akiko, Murakami, Yoishinori, Geerlings, Mirjam I, Gasca, Natalie C, Gudnason, Vilmundur, van Vugt, Marion, Shiroma, Eric J, Sigurdsson, Sigurdur, Ghanbari, Mohsen, Boerwinkle, Eric, Fongang, Bernard, Wang, Ruiqi, Ikram, Mohammad K, Völker, Uwe, de Jager, Phil L, de Cid, Rafael, Nordestgaard, Børge G, Sargurupremraj, Muralidharan, Verma, Shefali S, de Laat, Karlijn F, van Norden, Anouk G W, de Kort, Paul L, Vermeer, Sarah E, Brouwers, Paul J A M, Gons, Rob A R, den Heijer, Tom, van Dijk, Gert W, van Rooij, Frank G W, Aamodt, Anne H, Skogholt, Anne H, Willer, Cristen J, Heuch, Ingrid, Hagen, Knut, Fritsche, Lars G, Pedersen, Linda M, Ellekjær, Hanne, Zhou, Wei, Martinsen, Amy E, Kristoffersen, Espen S, Thomas, Laurent F, Kleinschnitz, Christoph, Frantz, Stefan, Ungethüm, Kathrin, Gallego-Fabrega, Cristina, Lledós, Miquel, Llucià-Carol, Laia, Sobrino, Tomas, Campos, Francisco, Castillo, José, Freijó, Marimar, Arenillas, Juan Francisco, Obach, Victor, Álvarez-Sabín, José, Molina, Carlos A, Ribó, Marc, Muñoz-Narbona, Lucia, Lopez-Cancio, Elena, Millán, Mònica, Diaz-Navarro, Rosa, Vives-Bauza, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Dhar, Rajat, Delgado-Mederos, Raquel, Prats-Sánchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Martí-Fàbregas, Joan, Schnohr, Peter, Jensen, Gorm B, Benn, Marianne, Afzal, Shoaib, Kamstrup, Pia R, van Setten, Jessica, van der Laan, Sander W, Vonk, Jet M J, Kim, Bong-Jo, Curtze, Sami, Tiainen, Marjaana, Kinnunen, Janne, Menon, Vilas, Sung, Yun Ju, Yang, Chengran, Saillour-Glenisson, Florence, Gravel, Simon, Onland-Moret, N Charlotte, and Heath, Alicia K
Subjects: Stroke, Multidisciplinary, Genetic markers, ddc:500, Predictive markers, Genome-wide association studies
Published: 2022

85. Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.

Author: Winsvold BS, Harder AVE, Ran C, Chalmer MA, Dalmasso MC, Ferkingstad E, Tripathi KP, Bacchelli E, Børte S, Fourier C, Petersen AS, Vijfhuizen LS, Magnusson SH, O'Connor E, Bjornsdottir G, Häppölä P, Wang YF, Callesen I, Kelderman T, Gallardo VJ, de Boer I, Olofsgård FJ, Heinze K, Lund N, Thomas LF, Hsu CL, Pirinen M, Hautakangas H, Ribasés M, Guerzoni S, Sivakumar P, Yip J, Heinze A, Küçükali F, Ostrowski SR, Pedersen OB, Kristoffersen ES, Martinsen AE, Artigas MS, Lagrata S, Cainazzo MM, Adebimpe J, Quinn O, Göbel C, Cirkel A, Volk AE, Heilmann-Heimbach S, Skogholt AH, Gabrielsen ME, Wilbrink LA, Danno D, Mehta D, Guðbjartsson DF, Rosendaal FR, Willems van Dijk K, Fronczek R, Wagner M, Scherer M, Göbel H, Sleegers K, Sveinsson OA, Pani L, Zoli M, Ramos-Quiroga JA, Dardiotis E, Steinberg A, Riedel-Heller S, Sjöstrand C, Thorgeirsson TE, Stefansson H, Southgate L, Trembath RC, Vandrovcova J, Noordam R, Paemeleire K, Stefansson K, Fann CS, Waldenlind E, Tronvik E, Jensen RH, Chen SP, Houlden H, Terwindt GM, Kubisch C, Maestrini E, Vikelis M, Pozo-Rosich P, Belin AC, Matharu M, van den Maagdenberg AMJM, Hansen TF, Ramirez A, and Zwart JA
Subjects: Male, Humans, Female, Risk Factors, Genome-Wide Association Study, Smoking adverse effects, Smoking genetics, Polymorphism, Single Nucleotide genetics, Genetic Predisposition to Disease genetics, Cluster Headache epidemiology, Cluster Headache genetics, Migraine Disorders
Abstract: Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights., Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry. In a secondary trans-ancestry meta-analysis, we included 734 cases and 9,846 controls of East Asian ancestry. Candidate causal genes were prioritized by 5 complementary methods: expression quantitative trait loci, transcriptome-wide association, fine-mapping of causal gene sets, genetically driven DNA methylation, and effects on protein structure. Gene set and tissue enrichment analyses, genetic correlation, genetic risk score analysis, and Mendelian randomization were part of the downstream analyses., Results: The estimated single nucleotide polymorphism (SNP)-based heritability of cluster headache was 14.5%. We identified 9 independent signals in 7 genomewide significant loci in the primary meta-analysis, and one additional locus in the trans-ethnic meta-analysis. Five of the loci were previously known. The 20 genes prioritized as potentially causal for cluster headache showed enrichment to artery and brain tissue. Cluster headache was genetically correlated with cigarette smoking, risk-taking behavior, attention deficit hyperactivity disorder (ADHD), depression, and musculoskeletal pain. Mendelian randomization analysis indicated a causal effect of cigarette smoking intensity on cluster headache. Three of the identified loci were shared with migraine., Interpretation: This first genomewide association study meta-analysis gives clues to the biological basis of cluster headache and indicates that smoking is a causal risk factor. ANN NEUROL 2023;94:713-726., (© 2023 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)
Published: 2023
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86. Genetic variation of platelet glycoprotein VI and the risk of venous thromboembolism.

Author: Skille H, Paulsen B, Hveem K, Gabrielsen ME, Brumpton B, Hindberg K, Gran OV, Rosendaal FR, Brækkan SK, and Hansen JB
Subjects: Genetic Variation, Humans, Platelet Activation, Platelet Membrane Glycoproteins genetics, Risk Factors, Venous Thromboembolism etiology, Venous Thromboembolism genetics
Published: 2020
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