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Fletta eftir efnisorði "Polymorphism, Single Nucleotide"

Fletta eftir efnisorði "Polymorphism, Single Nucleotide"

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    Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores 
    GEMO Study Collaborators; EMBRACE Collaborators; kConFab Investigators; HEBON Investigators; Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (2022-01)
    BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant ...
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    Coding and regulatory variants are associated with serum protein levels and disease 
    Emilsson, Valur; Gudmundsdottir, Valborg; Gudjonsson, Alexander; Jonmundsson, Thorarinn; Jonsson, Brynjolfur G; Karim, Mohd A; Ilkov, Marjan; Staley, James R; Gudmundsson, Elias F; Launer, Lenore J; Lindeman, Jan H; Morton, Nicholas M; Aspelund, Thor; Lamb, John R; Jennings, Lori L; Gudnason, Vilmundur (2022-01-25)
    Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common ...
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    Genetic insights into resting heart rate and its role in cardiovascular disease 
    DCCT/EDIC Research Group; Arnar, Davíð Ottó (2023-08-02)
    Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further ...
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    Genetic Risk Factors in Drug-Induced Liver Injury Due to Isoniazid-Containing Antituberculosis Drug Regimens 
    Nicoletti, Paola; Devarbhavi, Harshad; Goel, Ashish; Venkatesan, Radha; Eapen, Chundamannil E.; Grove, Jane I.; Zafer, Samreen; Björnsson, Einar Stefán; Lucena, M. Isabel; Andrade, Raul J.; Pirmohamed, Munir; Wadelius, Mia; Larrey, Dominique; Maitland-van der Zee, Anke Hilse; Ibanez, Luisa; Watkins, Paul B.; Daly, Ann K.; Aithal, Guruprasad P. (2021-04)
    Drug-induced liver injury (DILI) is a complication of treatment with antituberculosis (TB) drugs, especially in isoniazid (INH)-containing regimens. To investigate genetic risk factors, we performed a genomewide association study (GWAS) involving anti-TB ...
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    Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles 
    International Headache Genetics Consortium; HUNT All-in Headache; Danish Blood Donor Study Genomic Cohort (2022-02-01)
    Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are ...
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    Genome-wide association study of circulating interleukin 6 levels identifies novel loci 
    Ahluwalia, Tarunveer S.; Prins, Bram P.; Abdollahi, Mohammadreza; Armstrong, Nicola J.; Aslibekyan, Stella; Bain, Lisa; Jefferis, Barbara; Baumert, Jens; Beekman, Marian; Ben-Shlomo, Yoav; Bis, Joshua C.; Mitchell, Braxton D.; De Geus, Eco; Delgado, Graciela E.; Marek, Diana; Eriksson, Joel; Kajantie, Eero; Kanoni, Stavroula; Kemp, John P.; Lu, Chen; Marioni, Riccardo E.; McLachlan, Stela; Milaneschi, Yuri; Nolte, Ilja M.; Petrelis, Alexandros M.; Porcu, Eleonora; Sabater-Lleal, Maria; Naderi, Elnaz; Seppälä, Ilkka; Shah, Tina; Singhal, Gaurav; Standl, Marie; Teumer, Alexander; Thalamuthu, Anbupalam; Thiering, Elisabeth; Trompet, Stella; Ballantyne, Christie M.; Benjamin, Emelia J.; Casas, Juan P.; Toben, Catherine; Dedoussis, George; Deelen, Joris; Durda, Peter; Engmann, Jorgen; Feitosa, Mary F.; Grallert, Harald; Hammarstedt, Ann; Harris, Sarah E.; Homuth, Georg; Guðnason, Vilmundur G. (2021-01-30)
    Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease ...
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    International links between Streptococcus pneumoniae vaccine serotype 4 sequence type (ST) 801 in Northern European shipyard outbreaks of invasive pneumococcal disease 
    The Global Pneumococcal Sequencing Consortium (2022-02-11)
    Background: Pneumococcal disease outbreaks of vaccine preventable serotype 4 sequence type (ST)801 in shipyards have been reported in several countries. We aimed to use genomics to establish any international links between them. Methods: Sequence data ...
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    X-chromosome and kidney function : evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements 
    Scholz, Markus; Horn, Katrin; Pott, Janne; Wuttke, Matthias; Kühnapfel, Andreas; Nasr, M. Kamal; Kirsten, Holger; Li, Yong; Hoppmann, Anselm; Gorski, Mathias; Ghasemi, Sahar; Li, Man; Tin, Adrienne; Chai, Jin Fang; Cocca, Massimiliano; Wang, Judy; Nutile, Teresa; Akiyama, Masato; Åsvold, Bjørn Olav; Bansal, Nisha; Biggs, Mary L.; Boutin, Thibaud; Brenner, Hermann; Brumpton, Ben; Burkhardt, Ralph; Cai, Jianwen; Campbell, Archie; Campbell, Harry; Chalmers, John; Chasman, Daniel I.; Chee, Miao Ling; Chee, Miao Li; Chen, Xu; Cheng, Ching Yu; Cifkova, Renata; Daviglus, Martha; Delgado, Graciela; Dittrich, Katalin; Edwards, Todd L.; Endlich, Karlhans; Michael Gaziano, J.; Giri, Ayush; Giulianini, Franco; Gordon, Scott D.; Gudbjartsson, Daniel F.; Hallan, Stein; Hamet, Pavel; Hartman, Catharina A.; Hayward, Caroline; Heid, Iris M.; Hellwege, Jacklyn N.; Holleczek, Bernd; Holm, Hilma; Hutri-Kähönen, Nina; Hveem, Kristian; Isermann, Berend; Jonas, Jost B.; Joshi, Peter K.; Kamatani, Yoichiro; Kanai, Masahiro; Kastarinen, Mika; Khor, Chiea Chuen; Kiess, Wieland; Kleber, Marcus E.; Körner, Antje; Kovacs, Peter; Krajcoviechova, Alena; Kramer, Holly; Krämer, Bernhard K.; Kuokkanen, Mikko; Kähönen, Mika; Lange, Leslie A.; Lash, James P.; Lehtimäki, Terho; Li, Hengtong; Lin, Bridget M.; Liu, Jianjun; Loeffler, Markus; Lyytikäinen, Leo Pekka; Magnusson, Patrik K.E.; Martin, Nicholas G.; Matsuda, Koichi; Milaneschi, Yuri; Mishra, Pashupati P.; Mononen, Nina; Montgomery, Grant W.; Mook-Kanamori, Dennis O.; Mychaleckyj, Josyf C.; März, Winfried; Nauck, Matthias; Nikus, Kjell; Nolte, Ilja M.; Noordam, Raymond; Okada, Yukinori; Ólafsson, Ísleifur; Oldehinkel, Albertine J.; Penninx, Brenda W.J.H.; Perola, Markus; Pirastu, Nicola; Polasek, Ozren; Porteous, David J.; Poulain, Tanja; Psaty, Bruce M.; Rabelink, Ton J.; Raffield, Laura M.; Raitakari, Olli T.; Rasheed, Humaira; Reilly, Dermot F.; Rice, Kenneth M.; Richmond, Anne; Ridker, Paul M.; Rotter, Jerome I.; Rudan, Igor; Sabanayagam, Charumathi; Salomaa, Veikko; Schneiderman, Neil; Schöttker, Ben; Sims, Mario; Snieder, Harold; Stark, Klaus J.; Stefánsson, Kári; Stocker, Hannah; Stumvoll, Michael; Sulem, Patrick; Sveinbjornsson, Gardar; Svensson, Per O.; Tai, E. Shyong; Taylor, Kent D.; Tayo, Bamidele O.; Teren, Andrej; Tham, Yih Chung; Thiery, Joachim; Thio, Chris H.L.; Thomas, Laurent F.; Tremblay, Johanne; Tönjes, Anke; van der Most, Peter J.; Vitart, Veronique; Völker, Uwe; Wang, Ya Xing; Wang, Chaolong; Wei, Wen Bin; Whitfield, John B.; Wild, Sarah H.; Wilson, James F.; Winkler, Thomas W.; Wong, Tien Yin; Woodward, Mark; Sim, Xueling; Chu, Audrey Y.; Feitosa, Mary F.; Þorsteinsdóttir, Unnur; Hung, Adriana M.; Teumer, Alexander; Franceschini, Nora; Parsa, Afshin; Köttgen, Anna; Schlosser, Pascal; Pattaro, Cristian (2024-01-18)
    X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits ...