12 results on '"Moayyeri, Alireza"'
Search Results
2. Impact of fragility fractures on activities of daily living and productivity in community-dwelling women: a multi-national study
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Yeh, Eric J., primary, Rajkovic-Hooley, Olivera, additional, Silvey, Mark, additional, Ambler, William S., additional, Milligan, Gary, additional, Pinedo-Villanueva, Rafael, additional, Harvey, Nicholas C., additional, and Moayyeri, Alireza, additional
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- 2023
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3. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
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Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J, Dahia, Chitra L, Park-Min, Kyung Hyun, Tobias, Jonathan H, Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S, Nielson, Carrie M, Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui, Chou, Wen-Chi, Mokry, Lauren E, Moayyeri, Alireza, Claussnitzer, Melina, Cheng, Chia-Ho, Cheung, Warren, Medina-Gómez, Carolina, Ge, Bing, Chen, Shu-Huang, Choi, Kwangbom, Oei, Ling, Fraser, James, Kraaij, Robert, Hibbs, Matthew A, Gregson, Celia L, Paquette, Denis, Hofman, Albert, Wibom, Carl, Tranah, Gregory J, Marshall, Mhairi, Gardiner, Brooke B, Cremin, Katie, Auer, Paul, Hsu, Li, Ring, Sue, Tung, Joyce Y, Thorleifsson, Gudmar, Enneman, Anke W, Van Schoor, Natasja M, De Groot, Lisette CPGM, Van Der Velde, Nathalie, Melin, Beatrice, Kemp, John P, Christiansen, Claus, Sayers, Adrian, Zhou, Yanhua, Calderari, Sophie, Van Rooij, Jeroen, Carlson, Chris, Peters, Ulrike, Berlivet, Soizik, Dostie, Josée, Uitterlinden, Andre G, Williams, Stephen R, Farber, Charles, Grinberg, Daniel, LaCroix, Andrea Z, Haessler, Jeff, Chasman, Daniel I, Giulianini, Franco, Rose, Lynda M, Ridker, Paul M, Eisman, John A, Nguyen, Tuan V, Center, Jacqueline R, Nogues, Xavier, Garcia-Giralt, Natalia, Launer, Lenore L, Gudnason, Vilmunder, Mellström, Dan, Vandenput, Liesbeth, Amin, Najaf, Van Duijn, Cornelia M, Karlsson, Magnus K, Ljunggren, Östen, Svensson, Olle, Hallmans, Göran, Rousseau, François, Giroux, Sylvie, Bussière, Johanne, Arp, Pascal P, Koromani, Fjorda, Prince, Richard L, Lewis, Joshua R, Langdahl, Bente L, Hermann, A Pernille, Jensen, Jens-Erik B, Kaptoge, Stephen, Khaw, Kay-Tee, Reeve, Jonathan, Formosa, Melissa M, Xuereb-Anastasi, Angela, Åkesson, Kristina, McGuigan, Fiona E, Garg, Gaurav, Olmos, Jose M, Zarrabeitia, Maria T, Riancho, Jose A, Ralston, Stuart H, Alonso, Nerea, Jiang, Xi, Goltzman, David, Pastinen, Tomi, Grundberg, Elin, Gauguier, Dominique, Orwoll, Eric S, Karasik, David, Davey-Smith, George, AOGC Consortium, Smith, Albert V, Siggeirsdottir, Kristin, Harris, Tamara B, Zillikens, M Carola, Van Meurs, Joyce BJ, Thorsteinsdottir, Unnur, Maurano, Matthew T, Timpson, Nicholas J, Soranzo, Nicole, Durbin, Richard, Wilson, Scott G, Ntzani, Evangelia E, Brown, Matthew A, Stefansson, Kari, Hinds, David A, Spector, Tim, Cupples, L Adrienne, Ohlsson, Claes, Greenwood, Celia MT, UK10K Consortium, Jackson, Rebecca D, Rowe, David W, Loomis, Cynthia A, Evans, David M, Ackert-Bicknell, Cheryl L, Joyner, Alexandra L, Duncan, Emma L, Kiel, Douglas P, Rivadeneira, Fernando, Richards, J Brent, Rosello-Diez, Alberto [0000-0002-5550-9846], Kaptoge, Stephen [0000-0002-1155-4872], Khaw, Kay-Tee [0000-0002-8802-2903], Soranzo, Nicole [0000-0003-1095-3852], and Apollo - University of Cambridge Repository
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Homeodomain Proteins ,Genotype ,Genome, Human ,Genetic Variation ,Genomics ,Sequence Analysis, DNA ,Bone and Bones ,White People ,Europe ,Wnt Proteins ,Disease Models, Animal ,Fractures, Bone ,Mice ,Gene Frequency ,Bone Density ,Animals ,Humans ,Exome ,Female ,Genetic Predisposition to Disease - Abstract
The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants, as well as rare, population-specific, coding variants. Here we identify novel non-coding genetic variants with large effects on BMD (ntotal = 53,236) and fracture (ntotal = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta = 2 × 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 × 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1(cre/flox) mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low-frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size = +0.41 s.d., Pmeta = 1 × 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
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- 2015
4. Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect
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Broer, Linda, primary, Codd, Veryan, additional, Nyholt, Dale R, additional, Deelen, Joris, additional, Mangino, Massimo, additional, Willemsen, Gonneke, additional, Albrecht, Eva, additional, Amin, Najaf, additional, Beekman, Marian, additional, de Geus, Eco J C, additional, Henders, Anjali, additional, Nelson, Christopher P, additional, Steves, Claire J, additional, Wright, Margie J, additional, de Craen, Anton J M, additional, Isaacs, Aaron, additional, Matthews, Mary, additional, Moayyeri, Alireza, additional, Montgomery, Grant W, additional, Oostra, Ben A, additional, Vink, Jacqueline M, additional, Spector, Tim D, additional, Slagboom, P Eline, additional, Martin, Nicholas G, additional, Samani, Nilesh J, additional, van Duijn, Cornelia M, additional, and Boomsma, Dorret I, additional
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- 2013
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5. Genetic Influences on Circulating Vitamin D Level: A Review
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Zhang, Feng, primary, Moayyeri, Alireza, additional, and Spector, Timothy D., additional
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- 2012
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6. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
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Estrada, Karol, primary, Styrkarsdottir, Unnur, additional, Evangelou, Evangelos, additional, Hsu, Yi-Hsiang, additional, Duncan, Emma L, additional, Ntzani, Evangelia E, additional, Oei, Ling, additional, Albagha, Omar M E, additional, Amin, Najaf, additional, Kemp, John P, additional, Koller, Daniel L, additional, Li, Guo, additional, Liu, Ching-Ti, additional, Minster, Ryan L, additional, Moayyeri, Alireza, additional, Vandenput, Liesbeth, additional, Willner, Dana, additional, Xiao, Su-Mei, additional, Yerges-Armstrong, Laura M, additional, Zheng, Hou-Feng, additional, Alonso, Nerea, additional, Eriksson, Joel, additional, Kammerer, Candace M, additional, Kaptoge, Stephen K, additional, Leo, Paul J, additional, Thorleifsson, Gudmar, additional, Wilson, Scott G, additional, Wilson, James F, additional, Aalto, Ville, additional, Alen, Markku, additional, Aragaki, Aaron K, additional, Aspelund, Thor, additional, Center, Jacqueline R, additional, Dailiana, Zoe, additional, Duggan, David J, additional, Garcia, Melissa, additional, Garcia-Giralt, Natàlia, additional, Giroux, Sylvie, additional, Hallmans, Göran, additional, Hocking, Lynne J, additional, Husted, Lise Bjerre, additional, Jameson, Karen A, additional, Khusainova, Rita, additional, Kim, Ghi Su, additional, Kooperberg, Charles, additional, Koromila, Theodora, additional, Kruk, Marcin, additional, Laaksonen, Marika, additional, Lacroix, Andrea Z, additional, Lee, Seung Hun, additional, Leung, Ping C, additional, Lewis, Joshua R, additional, Masi, Laura, additional, Mencej-Bedrac, Simona, additional, Nguyen, Tuan V, additional, Nogues, Xavier, additional, Patel, Millan S, additional, Prezelj, Janez, additional, Rose, Lynda M, additional, Scollen, Serena, additional, Siggeirsdottir, Kristin, additional, Smith, Albert V, additional, Svensson, Olle, additional, Trompet, Stella, additional, Trummer, Olivia, additional, van Schoor, Natasja M, additional, Woo, Jean, additional, Zhu, Kun, additional, Balcells, Susana, additional, Brandi, Maria Luisa, additional, Buckley, Brendan M, additional, Cheng, Sulin, additional, Christiansen, Claus, additional, Cooper, Cyrus, additional, Dedoussis, George, additional, Ford, Ian, additional, Frost, Morten, additional, Goltzman, David, additional, González-Macías, Jesús, additional, Kähönen, Mika, additional, Karlsson, Magnus, additional, Khusnutdinova, Elza, additional, Koh, Jung-Min, additional, Kollia, Panagoula, additional, Langdahl, Bente Lomholt, additional, Leslie, William D, additional, Lips, Paul, additional, Ljunggren, Östen, additional, Lorenc, Roman S, additional, Marc, Janja, additional, Mellström, Dan, additional, Obermayer-Pietsch, Barbara, additional, Olmos, José M, additional, Pettersson-Kymmer, Ulrika, additional, Reid, David M, additional, Riancho, José A, additional, Ridker, Paul M, additional, Rousseau, François, additional, lagboom, P Eline S, additional, Tang, Nelson L S, additional, Urreizti, Roser, additional, Van Hul, Wim, additional, Viikari, Jorma, additional, Zarrabeitia, María T, additional, Aulchenko, Yurii S, additional, Castano-Betancourt, Martha, additional, Grundberg, Elin, additional, Herrera, Lizbeth, additional, Ingvarsson, Thorvaldur, additional, Johannsdottir, Hrefna, additional, Kwan, Tony, additional, Li, Rui, additional, Luben, Robert, additional, Medina-Gómez, Carolina, additional, Th Palsson, Stefan, additional, Reppe, Sjur, additional, Rotter, Jerome I, additional, Sigurdsson, Gunnar, additional, van Meurs, Joyce B J, additional, Verlaan, Dominique, additional, Williams, Frances M K, additional, Wood, Andrew R, additional, Zhou, Yanhua, additional, Gautvik, Kaare M, additional, Pastinen, Tomi, additional, Raychaudhuri, Soumya, additional, Cauley, Jane A, additional, Chasman, Daniel I, additional, Clark, Graeme R, additional, Cummings, Steven R, additional, Danoy, Patrick, additional, Dennison, Elaine M, additional, Eastell, Richard, additional, Eisman, John A, additional, Gudnason, Vilmundur, additional, Hofman, Albert, additional, Jackson, Rebecca D, additional, Jones, Graeme, additional, Jukema, J Wouter, additional, Khaw, Kay-Tee, additional, Lehtimäki, Terho, additional, Liu, Yongmei, additional, Lorentzon, Mattias, additional, McCloskey, Eugene, additional, Mitchell, Braxton D, additional, Nandakumar, Kannabiran, additional, Nicholson, Geoffrey C, additional, Oostra, Ben A, additional, Peacock, Munro, additional, Pols, Huibert A P, additional, Prince, Richard L, additional, Raitakari, Olli, additional, Reid, Ian R, additional, Robbins, John, additional, Sambrook, Philip N, additional, Sham, Pak Chung, additional, Shuldiner, Alan R, additional, Tylavsky, Frances A, additional, van Duijn, Cornelia M, additional, Wareham, Nick J, additional, Cupples, L Adrienne, additional, Econs, Michael J, additional, Evans, David M, additional, Harris, Tamara B, additional, Kung, Annie Wai Chee, additional, Psaty, Bruce M, additional, Reeve, Jonathan, additional, Spector, Timothy D, additional, Streeten, Elizabeth A, additional, Zillikens, M Carola, additional, Thorsteinsdottir, Unnur, additional, Ohlsson, Claes, additional, Karasik, David, additional, Richards, J Brent, additional, Brown, Matthew A, additional, Stefansson, Kari, additional, Uitterlinden, André G, additional, Ralston, Stuart H, additional, Ioannidis, John P A, additional, Kiel, Douglas P, additional, and Rivadeneira, Fernando, additional
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- 2012
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7. Estimation of absolute fracture risk among middle-aged and older men and women: the EPIC-Norfolk population cohort study
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Moayyeri, Alireza, primary, Kaptoge, Stephen, additional, Luben, Robert N., additional, Wareham, Nicholas J., additional, Bingham, Sheila, additional, Reeve, Jonathan, additional, and Khaw, Kay Tee, additional
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- 2009
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8. Metabolic syndrome and leptin concentrations in obese children
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Hamidi, Anahita, primary, Fakhrzadeh, Hossein, additional, Moayyeri, Alireza, additional, Heshmat, Ramin, additional, Ebrahimpour, Pantea, additional, and Larjani, Bagher, additional
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- 2006
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9. Discordance in diagnosis of osteoporosis using spine and hip bone densitometry
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Moayyeri, Alireza, primary, Soltani, Akbar, additional, Tabari, Nasibeh Khaleghnejad, additional, Sadatsafavi, Mohsen, additional, Hossein-neghad, Arash, additional, and Larijani, Bagher, additional
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- 2005
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10. Frequency of myasthenic crisis in relation to thymectomy in generalized myasthenia gravis: A 17-year experience
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Soleimani, Ali, primary, Moayyeri, Alireza, additional, Akhondzadeh, Shahin, additional, Sadatsafavi, Mohsen, additional, Shalmani, Hamidreza Tavakoli, additional, and Soltanzadeh, Akbar, additional
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- 2004
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11. Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci
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Erzurumluoglu, A Mesut, Liu, Mengzhen, Jackson, Victoria E, Barnes, Daniel R, Datta, Gargi, Melbourne, Carl A, Young, Robin, Batini, Chiara, Surendran, Praveen, Jiang, Tao, Adnan, Sheikh Daud, Afaq, Saima, Agrawal, Arpana, Altmaier, Elisabeth, Antoniou, Antonis C, Asselbergs, Folkert W, Baumbach, Clemens, Bierut, Laura, Bertelsen, Sarah, Boehnke, Michael, Bots, Michiel L, Brazel, David M, Chambers, John C, Chang-Claude, Jenny, Chen, Chu, Corley, Janie, Chou, Yi-Ling, David, Sean P, De Boer, Rudolf A, De Leeuw, Christiaan A, Dennis, Joe G, Dominiczak, Anna F, Dunning, Alison M, Easton, Douglas F, Eaton, Charles, Elliott, Paul, Evangelou, Evangelos, Faul, Jessica D, Foroud, Tatiana, Goate, Alison, Gong, Jian, Grabe, Hans J, Haessler, Jeff, Haiman, Christopher, Hallmans, Göran, Hammerschlag, Anke R, Harris, Sarah E, Hattersley, Andrew, Heath, Andrew, Hsu, Chris, Iacono, William G, Kanoni, Stavroula, Kapoor, Manav, Kaprio, Jaakko, Kardia, Sharon L, Karpe, Fredrik, Kontto, Jukka, Kooner, Jaspal S, Kooperberg, Charles, Kuulasmaa, Kari, Laakso, Markku, Lai, Dongbing, Langenberg, Claudia, Le, Nhung, Lettre, Guillaume, Loukola, Anu, Luan, Jian'an, Madden, Pamela AF, Mangino, Massimo, Marioni, Riccardo E, Marouli, Eirini, Marten, Jonathan, Martin, Nicholas G, McGue, Matt, Michailidou, Kyriaki, Mihailov, Evelin, Moayyeri, Alireza, Moitry, Marie, Müller-Nurasyid, Martina, Naheed, Aliya, Nauck, Matthias, Neville, Matthew J, Nielsen, Sune Fallgaard, North, Kari, Perola, Markus, Pharoah, Paul DP, Pistis, Giorgio, Polderman, Tinca J, Posthuma, Danielle, Poulter, Neil, Qaiser, Beenish, Rasheed, Asif, Reiner, Alex, Renström, Frida, Rice, John, Rohde, Rebecca, Rolandsson, Olov, Samani, Nilesh J, Samuel, Maria, Schlessinger, David, Scholte, Steven H, Scott, Robert A, Sever, Peter, Shao, Yaming, Shrine, Nick, Smith, Jennifer A, Starr, John M, Stirrups, Kathleen, Stram, Danielle, Stringham, Heather M, Tachmazidou, Ioanna, Tardif, Jean-Claude, Thompson, Deborah J, Tindle, Hilary A, Tragante, Vinicius, Trompet, Stella, Turcot, Valerie, Tyrrell, Jessica, Vaartjes, Ilonca, Van Der Leij, Andries R, Van Der Meer, Peter, Varga, Tibor V, Verweij, Niek, Völzke, Henry, Wareham, Nicholas J, Warren, Helen R, Weir, David R, Weiss, Stefan, Wetherill, Leah, Yaghootkar, Hanieh, Yavas, Ersin, Jiang, Yu, Chen, Fang, Zhan, Xiaowei, Zhang, Weihua, Zhao, Wei, Zhou, Kaixin, Amouyel, Philippe, Blankenberg, Stefan, Caulfield, Mark J, Chowdhury, Rajiv, Cucca, Francesco, Deary, Ian J, Deloukas, Panos, Di Angelantonio, Emanuele, Ferrario, Marco, Ferrières, Jean, Franks, Paul W, Frayling, Tim M, Frossard, Philippe, Hall, Ian P, Hayward, Caroline, Jansson, Jan-Håkan, Jukema, J Wouter, Kee, Frank, Männistö, Satu, Metspalu, Andres, Munroe, Patricia B, Nordestgaard, Børge Grønne, Palmer, Colin NA, Salomaa, Veikko, Sattar, Naveed, Spector, Timothy, Strachan, David Peter, Understanding Society Scientific Group, EPIC-CVD, Van Der Harst, Pim, Zeggini, Eleftheria, Saleheen, Danish, Butterworth, Adam S, Wain, Louise V, Abecasis, Goncalo R, Danesh, John, Tobin, Martin D, Vrieze, Scott, Liu, Dajiang J, and Howson, Joanna MM
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Europe ,Male ,Databases, Factual ,Genetic Loci ,Smoking ,Humans ,Exome ,Female ,Polymorphism, Single Nucleotide ,United Kingdom ,3. Good health ,Biological Specimen Banks - Abstract
Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10-8 in either analysis were taken forward for replication in up to 275,596 independent participants from UK Biobank. Lastly, a meta-analysis of the discovery and replication studies was performed. Sixteen SNVs were associated with at least one of the smoking behaviour traits (P < 5 × 10-8) in the discovery samples. Ten novel SNVs, including rs12616219 near TMEM182, were followed-up and five of them (rs462779 in REV3L, rs12780116 in CNNM2, rs1190736 in GPR101, rs11539157 in PJA1, and rs12616219 near TMEM182) replicated at a Bonferroni significance threshold (P < 4.5 × 10-3) with consistent direction of effect. A further 35 SNVs were associated with smoking behaviour traits in the discovery plus replication meta-analysis (up to 622,409 participants) including a rare SNV, rs150493199, in CCDC141 and two low-frequency SNVs in CEP350 and HDGFRP2. Functional follow-up implied that decreased expression of REV3L may lower the probability of smoking initiation. The novel loci will facilitate understanding the genetic aetiology of smoking behaviour and may lead to the identification of potential drug targets for smoking prevention and/or cessation.
12. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension
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Surendran, Praveen, Drenos, Fotios, Young, Robin, Warren, Helen, Cook, James P, Manning, Alisa K, Grarup, Niels, Sim, Xueling, Barnes, Daniel R, Witkowska, Kate, Staley, James R, Tragante, Vinicius, Tukiainen, Taru, Yaghootkar, Hanieh, Masca, Nicholas, Freitag, Daniel F, Ferreira, Teresa, Giannakopoulou, Olga, Tinker, Andrew, Harakalova, Magdalena, Mihailov, Evelin, Liu, Chunyu, Kraja, Aldi T, Fallgaard Nielsen, Sune, Rasheed, Asif, Samuel, Maria, Zhao, Wei, Bonnycastle, Lori L, Jackson, Anne U, Narisu, Narisu, Swift, Amy J, Southam, Lorraine, Marten, Jonathan, Huyghe, Jeroen R, Stančáková, Alena, Fava, Cristiano, Ohlsson, Therese, Matchan, Angela, Stirrups, Kathleen E, Bork-Jensen, Jette, Gjesing, Anette P, Kontto, Jukka, Perola, Markus, Shaw-Hawkins, Susan, Havulinna, Aki S, Zhang, He, Donnelly, Louise A, Groves, Christopher J, Rayner, N William, Neville, Matt J, Robertson, Neil R, Yiorkas, Andrianos M, Herzig, Karl-Heinz, Kajantie, Eero, Zhang, Weihua, Willems, Sara M, Lannfelt, Lars, Malerba, Giovanni, Soranzo, Nicole, Trabetti, Elisabetta, Verweij, Niek, Evangelou, Evangelos, Moayyeri, Alireza, Vergnaud, Anne-Claire, Nelson, Christopher P, Poveda, Alaitz, Varga, Tibor V, Caslake, Muriel, De Craen, Anton Jm, Trompet, Stella, Luan, Jian'an, Scott, Robert A, Harris, Sarah E, Liewald, David Cm, Marioni, Riccardo, Menni, Cristina, Farmaki, Aliki-Eleni, Hallmans, Göran, Renström, Frida, Huffman, Jennifer E, Hassinen, Maija, Burgess, Stephen, Vasan, Ramachandran S, Felix, Janine F, CHARGE-Heart Failure Consortium, Uria-Nickelsen, Maria, Malarstig, Anders, Reily, Dermot F, Hoek, Maarten, Vogt, Thomas, Lin, Honghuang, Lieb, Wolfgang, EchoGen Consortium, Traylor, Matthew, Markus, Hugh F, METASTROKE Consortium, Highland, Heather M, Justice, Anne E, Marouli, Eirini, GIANT Consortium, Lindström, Jaana, Uusitupa, Matti, Komulainen, Pirjo, Lakka, Timo A, Rauramaa, Rainer, Polasek, Ozren, Rudan, Igor, Rolandsson, Olov, Franks, Paul W, Dedoussis, George, Spector, Timothy D, EPIC-InterAct Consortium, Jousilahti, Pekka, Männistö, Satu, Deary, Ian J, Starr, John M, Langenberg, Claudia, Wareham, Nick J, Brown, Morris J, Dominiczak, Anna F, Connell, John M, Jukema, J Wouter, Sattar, Naveed, Ford, Ian, Packard, Chris J, Esko, Tõnu, Mägi, Reedik, Metspalu, Andres, De Boer, Rudolf A, Van Der Meer, Peter, Van Der Harst, Pim, Lifelines Cohort Study, Gambaro, Giovanni, Ingelsson, Erik, Lind, Lars, De Bakker, Paul Iw, Numans, Mattijs E, Brandslund, Ivan, Christensen, Cramer, Petersen, Eva Rb, Korpi-Hyövälti, Eeva, Oksa, Heikki, Chambers, John C, Kooner, Jaspal S, Blakemore, Alexandra If, Franks, Steve, Jarvelin, Marjo-Riitta, Husemoen, Lise L, Linneberg, Allan, Skaaby, Tea, Thuesen, Betina, Karpe, Fredrik, Tuomilehto, Jaakko, Doney, Alex Sf, Morris, Andrew D, Palmer, Colin Na, Holmen, Oddgeir Lingaas, Hveem, Kristian, Willer, Cristen J, Tuomi, Tiinamaija, Groop, Leif, Käräjämäki, AnneMari, Palotie, Aarno, Ripatti, Samuli, Salomaa, Veikko, Alam, Dewan S, Shafi Majumder, Abdulla Al, Di Angelantonio, Emanuele, Chowdhury, Rajiv, McCarthy, Mark I, Poulter, Neil, Stanton, Alice V, Sever, Peter, Amouyel, Philippe, Arveiler, Dominique, Blankenberg, Stefan, Ferrières, Jean, Kee, Frank, Kuulasmaa, Kari, Müller-Nurasyid, Martina, Veronesi, Giovanni, Virtamo, Jarmo, Deloukas, Panos, Wellcome Trust Case Control Consortium, Elliott, Paul, Understanding Society Scientific Group, Zeggini, Eleftheria, Kathiresan, Sekar, Melander, Olle, Kuusisto, Johanna, Laakso, Markku, Padmanabhan, Sandosh, Porteous, David, Hayward, Caroline, Scotland, Generation, Collins, Francis S, Mohlke, Karen L, Hansen, Torben, Pedersen, Oluf, Boehnke, Michael, Stringham, Heather M, EPIC-CVD Consortium, Frossard, Philippe, Newton-Cheh, Christopher, CHARGE+ Exome Chip Blood Pressure Consortium, Tobin, Martin D, Nordestgaard, Børge Grønne, T2D-GENES Consortium, GoT2DGenes Consortium, ExomeBP Consortium, CHD Exome+ Consortium, Caulfield, Mark J, Mahajan, Anubha, Morris, Andrew P, Tomaszewski, Maciej, Samani, Nilesh J, Saleheen, Danish, Asselbergs, Folkert W, Lindgren, Cecilia M, Danesh, John, Wain, Louise V, Butterworth, Adam S, Howson, Joanna Mm, and Munroe, Patricia B
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Genotype ,Hypertension ,Genetic Variation ,Humans ,Blood Pressure ,Genetic Predisposition to Disease ,3. Good health ,Genome-Wide Association Study - Abstract
High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to 192,763 individuals and used ∼155,063 samples for independent replication. We identified 30 new blood pressure- or hypertension-associated genetic regions in the general population, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects (>1.5 mm Hg/allele) than common variants. Multiple rare nonsense and missense variant associations were found in A2ML1, and a low-frequency nonsense variant in ENPEP was identified. Our data extend the spectrum of allelic variation underlying blood pressure traits and hypertension, provide new insights into the pathophysiology of hypertension and indicate new targets for clinical intervention.
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