8 results on '"Raitoharju, Emma"'
Number of results to display per page
Search Results
2. Additional file 1 of Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAs
- Author
-
Marttila, Saara, Viiri, Leena E., Mishra, Pashupati P., Kühnel, Brigitte, Matias-Garcia, Pamela R., Lyytikäinen, Leo-Pekka, Ceder, Tiina, Mononen, Nina, Rathmann, Wolfgang, Winkelmann, Juliane, Peters, Annette, Kähönen, Mika, Hutri-Kähönen, Nina, Juonala, Markus, Aalto-Setälä, Katriina, Raitakari, Olli, Lehtimäki, Terho, Waldenberger, Melanie, and Raitoharju, Emma
- Abstract
Additional file 1. Supplementary Figures S1-6, Supplementary Tables S1-3 and S11-13 and Supplementary materials and methods.
- Published
- 2021
- Full Text
- View/download PDF
3. Methylation status of nc886 epiallele reflects periconceptional conditions and is associated with glucose metabolism through nc886 RNAs
- Author
-
Marttila, Saara, Viiri, Leena E., Mishra, Pashupati P., Kühnel, Brigitte, Matias-Garcia, Pamela R., Lyytikäinen, Leo-Pekka, Ceder, Tiina, Mononen, Nina, Rathmann, Wolfgang, Winkelmann, Juliane, Peters, Annette, Kähönen, Mika, Hutri-Kähönen, Nina, Juonala, Markus, Aalto-Setälä, Katriina, Raitakari, Olli, Lehtimäki, Terho, Waldenberger, Melanie, and Raitoharju, Emma
- Subjects
ddc - Published
- 2020
4. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
- Author
-
Eicher, John D, Chami, Nathalie, Kacprowski, Tim, Nomura, Akihiro, Chen, Ming-Huei, Yanek, Lisa R, Tajuddin, Salman M, Schick, Ursula M, Slater, Andrew J, Pankratz, Nathan, Polfus, Linda, Schurmann, Claudia, Giri, Ayush, Brody, Jennifer A, Lange, Leslie A, Manichaikul, Ani, Hill, W David, Pazoki, Raha, Elliot, Paul, Evangelou, Evangelos, Tzoulaki, Ioanna, Gao, He, Vergnaud, Anne-Claire, Mathias, Rasika A, Becker, Diane M, Becker, Lewis C, Burt, Amber, Crosslin, David R, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Hernesniemi, Jussi, Kähönen, Mika, Raitoharju, Emma, Mononen, Nina, Raitakari, Olli T, Lehtimäki, Terho, Cushman, Mary, Zakai, Neil A, Nickerson, Deborah A, Raffield, Laura M, Quarells, Rakale, Willer, Cristen J, Peloso, Gina M, Abecasis, Goncalo R, Liu, Dajiang J, Global Lipids Genetics Consortium, Deloukas, Panos, Samani, Nilesh J, Schunkert, Heribert, Erdmann, Jeanette, CARDIoGRAM Exome Consortium, Myocardial Infarction Genetics Consortium, Fornage, Myriam, Richard, Melissa, Tardif, Jean-Claude, Rioux, John D, Dube, Marie-Pierre, de Denus, Simon, Lu, Yingchang, Bottinger, Erwin P, Loos, Ruth JF, Smith, Albert Vernon, Harris, Tamara B, Launer, Lenore J, Gudnason, Vilmundur, Velez Edwards, Digna R, Torstenson, Eric S, Liu, Yongmei, Tracy, Russell P, Rotter, Jerome I, Rich, Stephen S, Highland, Heather M, Boerwinkle, Eric, Li, Jin, Lange, Ethan, Wilson, James G, Mihailov, Evelin, Mägi, Reedik, Hirschhorn, Joel, Metspalu, Andres, Esko, Tõnu, Vacchi-Suzzi, Caterina, Nalls, Mike A, Zonderman, Alan B, Evans, Michele K, Engström, Gunnar, Orho-Melander, Marju, Melander, Olle, O'Donoghue, Michelle L, Waterworth, Dawn M, Wallentin, Lars, White, Harvey D, Floyd, James S, Bartz, Traci M, Rice, Kenneth M, Psaty, Bruce M, Starr, JM, Liewald, David CM, Hayward, Caroline, and Deary, Ian J
- Subjects
Blood Platelets ,Male ,Genetics & Heredity ,Platelet Count ,1.1 Normal biological development and functioning ,CARDIoGRAM Exome Consortium ,Genetic Variation ,Global Lipids Genetics Consortium ,Hematology ,Myocardial Infarction Genetics Consortium ,Biological Sciences ,Cardiovascular ,Medical and Health Sciences ,Blood ,Underpinning research ,Genetics ,Humans ,Female ,Exome ,Mean Platelet Volume ,Genome-Wide Association Study - Abstract
Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common (ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV (PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors.
- Published
- 2016
5. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
- Author
-
Chami, Nathalie, Chen, Ming-Huei, Slater, Andrew J, Eicher, John D, Evangelou, Evangelos, Tajuddin, Salman M, Love-Gregory, Latisha, Kacprowski, Tim, Schick, Ursula M, Nomura, Akihiro, Giri, Ayush, Lessard, Samuel, Brody, Jennifer A, Schurmann, Claudia, Pankratz, Nathan, Yanek, Lisa R, Manichaikul, Ani, Pazoki, Raha, Mihailov, Evelin, Hill, W David, Raffield, Laura M, Burt, Amber, Bartz, Traci M, Becker, Diane M, Becker, Lewis C, Boerwinkle, Eric, Bork-Jensen, Jette, Bottinger, Erwin P, O'Donoghue, Michelle L, Crosslin, David R, de Denus, Simon, Dubé, Marie-Pierre, Elliott, Paul, Engström, Gunnar, Evans, Michele K, Floyd, James S, Fornage, Myriam, Gao, He, Greinacher, Andreas, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B, Hayward, Caroline, Hernesniemi, Jussi, Highland, Heather M, Hirschhorn, Joel N, Hofman, Albert, Irvin, Marguerite R, Kähönen, Mika, Lange, Ethan, Launer, Lenore J, Lehtimäki, Terho, Li, Jin, Liewald, David CM, Linneberg, Allan, Liu, Yongmei, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Mägi, Reedik, Mathias, Rasika A, Melander, Olle, Metspalu, Andres, Mononen, Nina, Nalls, Mike A, Nickerson, Deborah A, Nikus, Kjell, O'Donnell, Chris J, Orho-Melander, Marju, Pedersen, Oluf, Petersmann, Astrid, Polfus, Linda, Psaty, Bruce M, Raitakari, Olli T, Raitoharju, Emma, Richard, Melissa, Rice, Kenneth M, Rivadeneira, Fernando, Rotter, Jerome I, Schmidt, Frank, Smith, Albert Vernon, Starr, John M, Taylor, Kent D, Teumer, Alexander, Thuesen, Betina H, Torstenson, Eric S, Tracy, Russell P, Tzoulaki, Ioanna, Zakai, Neil A, Vacchi-Suzzi, Caterina, van Duijn, Cornelia M, van Rooij, Frank JA, Cushman, Mary, Deary, Ian J, Velez Edwards, Digna R, Vergnaud, Anne-Claire, Wallentin, Lars, Waterworth, Dawn M, White, Harvey D, Wilson, James G, and Zonderman, Alan B
- Subjects
Erythrocyte Indices ,African Americans ,Genetics & Heredity ,Erythrocytes ,Genotype ,Quantitative Trait Loci ,Human Genome ,Genetic Variation ,Genetic Pleiotropy ,Hematology ,Allelic Imbalance ,Biological Sciences ,Medical and Health Sciences ,Black or African American ,Hemoglobins ,Rare Diseases ,Hematocrit ,Gene Frequency ,Clinical Research ,Genetics ,Humans ,2.1 Biological and endogenous factors ,Erythropoiesis ,Exome ,Aetiology - Abstract
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals fromstudies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2×10(-10) for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3× 10(-8) for hematocrit [HCT] and HGB). In African Americans, we identified a nonsense variant in CD36 associated with higher RBC distribution width (rs3211938, MAF = 8.7%, p = 7× 10(-11)) and showed that it is associated with lower CD36 expression and strong allelic imbalance in exvivo differentiated human erythroblasts. We also identified a rare missense variant in ALAS2 (rs201062903, MAF = 0.2%) associated with lower mean corpuscular volume and mean corpuscular hemoglobin (p < 8× 10(-9)). Mendelian mutations in ALAS2 are a cause of sideroblastic anemia and erythropoietic protoporphyria. Gene-based testing highlighted three rare missense variants in PKLR, a gene mutated in Mendelian non-spherocytic hemolytic anemia, associated with HGB and HCT (SKAT p < 8× 10(-7)). These rare, low-frequency, and common RBC variants showed pleiotropy, being also associated with platelet, white blood cell, and lipid traits. Our association results and functional annotation suggest the involvement of new genes in human erythropoiesis. We also confirm that rare and low-frequency variants play a role in the architecture of complex human traits, although their phenotypic effect is generally smaller than originally anticipated.
- Published
- 2016
6. Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy
- Author
-
Nath, Artika P, Ritchie, Scott C, Grinberg, Nastasiya F, Tang, Howard Ho-Fung, Huang, Qin Qin, Teo, Shu Mei, Ahola-Olli, Ari V, Würtz, Peter, Havulinna, Aki S, Santalahti, Kristiina, Pitkänen, Niina, Lehtimäki, Terho, Kähönen, Mika, Lyytikäinen, Leo-Pekka, Raitoharju, Emma, Seppälä, Ilkka, Sarin, Antti-Pekka, Ripatti, Samuli, Palotie, Aarno, Perola, Markus, Viikari, Jorma S, Jalkanen, Sirpa, Maksimow, Mikael, Salmi, Marko, Wallace, Chris, Raitakari, Olli T, Salomaa, Veikko, Abraham, Gad, Kettunen, Johannes, and Inouye, Michael
- Subjects
Adult ,Male ,Adolescent ,Quantitative Trait Loci ,Polymorphism, Single Nucleotide ,protein QTLs ,colocalisation analysis ,Young Adult ,GWAS ,Humans ,Gene Regulatory Networks ,Genetic Predisposition to Disease ,Longitudinal Studies ,Prospective Studies ,Child ,metabolites ,Aged ,Genome, Human ,eQTLs ,1. No poverty ,Genetic Pleiotropy ,Blood Proteins ,Middle Aged ,Prognosis ,cytokines ,3. Good health ,blood cell traits ,multivariate analysis ,Cardiovascular Diseases ,Female ,cardiometabolic diseases ,Biomarkers ,Follow-Up Studies ,Genome-Wide Association Study - Abstract
Cytokines are essential regulatory components of the immune system, and their aberrant levels have been linked to many disease states. Despite increasing evidence that cytokines operate in concert, many of the physiological interactions between cytokines, and the shared genetic architecture that underlies them, remain unknown. Here, we aimed to identify and characterize genetic variants with pleiotropic effects on cytokines. Using three population-based cohorts (n = 9,263), we performed multivariate genome-wide association studies (GWAS) for a correlation network of 11 circulating cytokines, then combined our results in meta-analysis. We identified a total of eight loci significantly associated with the cytokine network, of which two (PDGFRB and ABO) had not been detected previously. In addition, conditional analyses revealed a further four secondary signals at three known cytokine loci. Integration, through the use of Bayesian colocalization analysis, of publicly available GWAS summary statistics with the cytokine network associations revealed shared causal variants between the eight cytokine loci and other traits; in particular, cytokine network variants at the ABO, SERPINE2, and ZFPM2 loci showed pleiotropic effects on the production of immune-related proteins, on metabolic traits such as lipoprotein and lipid levels, on blood-cell-related traits such as platelet count, and on disease traits such as coronary artery disease and type 2 diabetes.
7. Additional file 4: of An interaction map of circulating metabolites, immune gene networks, and their genetic regulation
- Author
-
Artika Nath, Ritchie, Scott, Byars, Sean, Fearnley, Liam, Havulinna, Aki, Joensuu, Anni, Kangas, Antti, Soininen, Pasi, Wennerström, Annika, Milani, Lili, Metspalu, Andres, Männistö, Satu, Würtz, Peter, Kettunen, Johannes, Raitoharju, Emma, Kähönen, Mika, Juonala, Markus, Palotie, Aarno, Ala-Korpela, Mika, Ripatti, Samuli, Lehtimäki, Terho, Abraham, Gad, Raitakari, Olli, Salomaa, Veikko, Perola, Markus, and Inouye, Michael
- Subjects
3. Good health - Abstract
All Supplementary methods and Figures S1–S7. (DOCX 2445 kb)
8. Additional file 4: of An interaction map of circulating metabolites, immune gene networks, and their genetic regulation
- Author
-
Artika Nath, Ritchie, Scott, Byars, Sean, Fearnley, Liam, Havulinna, Aki, Joensuu, Anni, Kangas, Antti, Soininen, Pasi, Wennerström, Annika, Milani, Lili, Metspalu, Andres, Männistö, Satu, Würtz, Peter, Kettunen, Johannes, Raitoharju, Emma, Kähönen, Mika, Juonala, Markus, Palotie, Aarno, Ala-Korpela, Mika, Ripatti, Samuli, Lehtimäki, Terho, Abraham, Gad, Raitakari, Olli, Salomaa, Veikko, Perola, Markus, and Inouye, Michael
- Subjects
3. Good health - Abstract
All Supplementary methods and Figures S1–S7. (DOCX 2445 kb)
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.