Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 31 Records) |
| Query Trace: Disease and meta-analysis and MAF[original query] |
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| Causal and synthetic associations of variants in the SERPINA gene cluster with alpha1-antitrypsin serum levels. PLoS genetics 2013 9 (8): e1003585. Thun Gian Andri, Imboden Medea, Ferrarotti Ilaria, Kumar Ashish, Obeidat Ma'en, Zorzetto Michele, Haun Margot, Curjuric Ivan, Couto Alves Alexessander, Jackson Victoria E, Albrecht Eva, Ried Janina S, Teumer Alexander, Lopez Lorna M, Huffman Jennifer E, Enroth Stefan, Bossé Yohan, Hao Ke, Timens Wim, Gyllensten Ulf, Polasek Ozren, Wilson James F, Rudan Igor, Hayward Caroline, Sandford Andrew J, Deary Ian J, Koch Beate, Reischl Eva, Schulz Holger, Hui Jennie, James Alan L, Rochat Thierry, Russi Erich W, Jarvelin Marjo-Riitta, Strachan David P, Hall Ian P, Tobin Martin D, Dahl Morten, Fallgaard Nielsen Sune, Nordestgaard Børge G, Kronenberg Florian, Luisetti Maurizio, Probst-Hensch Nicole |
| Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease. PloS one 2013 8 (11): e79211. Li Nan-Nan, Tan Eng-King, Chang Xue-Li, Mao Xue-Ye, Zhang Jin-Hong, Zhao Dong-Mei, Liao Qiao, Yu Wen-Juan, Peng Ro |
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children.
Frontiers in genetics 2013 4 268. Namjou Bahram, Keddache Mehdi, Marsolo Keith, Wagner Michael, Lingren Todd, Cobb Beth, Perry Cassandra, Kennebeck Stephanie, Holm Ingrid A, Li Rongling, Crimmins Nancy A, Martin Lisa, Solti Imre, Kohane Isaac S, Harley John |
| Polymorphisms in catechol-O-methyltransferase modify treatment effects of aspirin on risk of cardiovascular disease. Arteriosclerosis, thrombosis, and vascular biology 2014 Sep 34 (9): 2160-7. Hall Kathryn T, Nelson Christopher P, Davis Roger B, Buring Julie E, Kirsch Irving, Mittleman Murray A, Loscalzo Joseph, Samani Nilesh J, Ridker Paul M, Kaptchuk Ted J, Chasman Daniel |
| Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PloS one 2014 9 (2): e87645. Okada Yukinori, Diogo Dorothee, Greenberg Jeffrey D, Mouassess Faten, Achkar Walid A L, Fulton Robert S, Denny Joshua C, Gupta Namrata, Mirel Daniel, Gabriel Stacy, Li Gang, Kremer Joel M, Pappas Dimitrios A, Carroll Robert J, Eyler Anne E, Trynka Gosia, Stahl Eli A, Cui Jing, Saxena Richa, Coenen Marieke J H, Guchelaar Henk-Jan, Huizinga Tom W J, Dieudé Philippe, Mariette Xavier, Barton Anne, Canhão Helena, Fonseca João E, de Vries Niek, Tak Paul P, Moreland Larry W, Bridges S Louis, Miceli-Richard Corinne, Choi Hyon K, Kamatani Yoichiro, Galan Pilar, Lathrop Mark, Raj Towfique, De Jager Philip L, Raychaudhuri Soumya, Worthington Jane, Padyukov Leonid, Klareskog Lars, Siminovitch Katherine A, Gregersen Peter K, Mardis Elaine R, Arayssi Thurayya, Kazkaz Layla A, Plenge Robert |
| Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians. The Journal of clinical endocrinology and metabolism 2015 Feb 100 (2): E345-9. Tsai Ching-Wei, North Kari E, Tin Adrienne, Haack Karin, Franceschini Nora, Saroja Voruganti V, Laston Sandy, Zhang Ying, Best Lyle G, MacCluer Jean W, Beaty Terri H, Navas-Acien Ana, Kao W H Linda, Howard Barbara |
| A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
Nature genetics 2015 Sep . Authors are not available |
| Association analysis of the GRN ?rs5848 and MAPT rs242557 polymorphisms in Parkinson's disease and multiple system atrophy: a large-scale population-based study and meta-analysis. The International journal of neuroscience 2015 Sep 1-8. Chen YongPing, Cao Bei, Ou RuWei, Chen XuePing, Zhao Bi, Wei QianQian, Wu Ying, Shang Hui-Fa |
| A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.
Scientific reports 2015 5 10442. Al-Tassan Nada A, Whiffin Nicola, Hosking Fay J, Palles Claire, Farrington Susan M, Dobbins Sara E, Harris Rebecca, Gorman Maggie, Tenesa Albert, Meyer Brian F, Wakil Salma M, Kinnersley Ben, Campbell Harry, Martin Lynn, Smith Christopher G, Idziaszczyk Shelley, Barclay Ella, Maughan Timothy S, Kaplan Richard, Kerr Rachel, Kerr David, Buchannan Daniel D, Ko Win Aung, Hopper John, Jenkins Mark, Lindor Noralane M, Newcomb Polly A, Gallinger Steve, Conti David, Schumacher Fred, Casey Graham, Dunlop Malcolm G, Tomlinson Ian P, Cheadle Jeremy P, Houlston Richard |
| Whole exome sequencing of extreme age-related macular degeneration phenotypes. Molecular vision 2016 22 1062-76. Sardell Rebecca J, Bailey Jessica N Cooke, Courtenay Monique D, Whitehead Patrice, Laux Reneé A, Adams Larry D, Fortun Jorge A, Brantley Milam A, Kovach Jaclyn L, Schwartz Stephen G, Agarwal Anita, Scott William K, Haines Jonathan L, Pericak-Vance Margaret |
| Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Human molecular genetics 2016 Sep . Hsu Yi-Hsiang, Li Guo, Liu Ching-Ti, Brody Jennifer A, Karasik David, Chou Wen-Chi, Demissie Serkalem, Nandakumar Kannabiran, Zhou Yanhua, Cheng Chia-Ho, Gill Richard, Gibbs Richard A, Muzny Donna, Santibanez Jireh, Estrada Karol, Rivadeneira Fernando, Harris Tamara, Gudnason Vilmundur, Uitterlinden Andre, Psaty Bruce M, Robbins John A, Adrienne Cupples L, Kiel Douglas |
| Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry. Scientific reports 2017 Sep 7 (1): 11380. Sapkota Yadav, Vivo Immaculata De, Steinthorsdottir Valgerdur, Fassbender Amelie, Bowdler Lisa, Buring Julie E, Edwards Todd L, Jones Sarah, O Dorien, Peterse Daniëlle, Rexrode Kathryn M, Ridker Paul M, Schork Andrew J, Thorleifsson Gudmar, Wallace Leanne M, , Kraft Peter, Morris Andrew P, Nyholt Dale R, Edwards Digna R Velez, Nyegaard Mette, D'Hooghe Thomas, Chasman Daniel I, Stefansson Kari, Missmer Stacey A, Montgomery Grant |
| A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility. Human cell 2018 Jan 31 (1): 10-13. Higashino Toshihide, Matsuo Hirotaka, Okada Yukinori, Nakashima Hiroshi, Shimizu Seiko, Sakiyama Masayuki, Tadokoro Shin, Nakayama Akiyoshi, Kawaguchi Makoto, Komatsu Mako, Hishida Asahi, Nakatochi Masahiro, Ooyama Hiroshi, Imaki Junko, Shinomiya Nariyos |
| A Genome-Wide Linkage Study for Chronic Obstructive Pulmonary Disease in a Dutch Genetic Isolate Identifies Novel Rare Candidate Variants. Frontiers in genetics 2018 9 133. Nedeljkovic Ivana, Terzikhan Natalie, Vonk Judith M, van der Plaat Diana A, Lahousse Lies, van Diemen Cleo C, Hobbs Brian D, Qiao Dandi, Cho Michael H, Brusselle Guy G, Postma Dirkje S, Boezen H M, van Duijn Cornelia M, Amin Naj |
| Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Nature communications 2018 11 9 (1): 5101. Ferkingstad Egil, Oddsson Asmundur, Gretarsdottir Solveig, Benonisdottir Stefania, Thorleifsson Gudmar, Deaton Aimee M, Jonsson Stefan, Stefansson Olafur A, Norddahl Gudmundur L, Zink Florian, Arnadottir Gudny A, Gunnarsson Bjarni, Halldorsson Gisli H, Helgadottir Anna, Jensson Brynjar O, Kristjansson Ragnar P, Sveinbjornsson Gardar, Sverrisson David A, Masson Gisli, Olafsson Isleifur, Eyjolfsson Gudmundur I, Sigurdardottir Olof, Holm Hilma, Jonsdottir Ingileif, Olafsson Sigurdur, Steingrimsdottir Thora, Rafnar Thorunn, Bjornsson Einar S, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Sulem Patrick, Stefansson Ka |
| A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.
Diabetologia 2019 02 62 (2): 292-305. Ahluwalia Tarunveer S, Schulz Christina-Alexandra, Waage Johannes, Skaaby Tea, Sandholm Niina, van Zuydam Natalie, Charmet Romain, Bork-Jensen Jette, Almgren Peter, Thuesen Betina H, Bedin Mathilda, Brandslund Ivan, Christensen Cramer K, Linneberg Allan, Ahlqvist Emma, Groop Per-Henrik, Hadjadj Samy, Tregouet David-Alexandre, Jørgensen Marit E, Grarup Niels, Pedersen Oluf, Simons Matias, Groop Leif, Orho-Melander Marju, McCarthy Mark I, Melander Olle, Rossing Peter, Kilpeläinen Tuomas O, Hansen Torb |
| SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta neuropathologica 2019 Mar . Campion Dominique, Charbonnier Camille, Nicolas Ga |
| Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. Molecular psychiatry 2020 Jul . Thygesen Johan H, Presman Amelia, Harju-Seppänen Jasmine, Irizar Haritz, Jones Rebecca, Kuchenbaecker Karoline, Lin Kuang, Alizadeh Behrooz Z, Austin-Zimmerman Isabelle, Bartels-Velthuis Agna, Bhat Anjali, Bruggeman Richard, Cahn Wiepke, Calafato Stella, Crespo-Facorro Benedicto, de Haan Liewe, de Zwarte Sonja M C, Di Forti Marta, Díez-Revuelta Álvaro, Hall Jeremy, Hall Mei-Hua, Iyegbe Conrad, Jablensky Assen, Kahn Rene, Kalaydjieva Luba, Kravariti Eugenia, Lawrie Stephen, Luykx Jurjen J, Mata Igancio, McDonald Colm, McIntosh Andrew M, McQuillin Andrew, Muir Rebecca, Ophoff Roel, Picchioni Marco, Prata Diana P, Ranlund Siri, Rujescu Dan, Rutten Bart P F, Schulze Katja, Shaikh Madiha, Schirmbeck Frederike, Simons Claudia J P, Toulopoulou Timothea, van Amelsvoort Therese, van Haren Neeltje, van Os Jim, van Winkel Ruud, Vassos Evangelos, Walshe Muriel, Weisbrod Matthias, Zartaloudi Eirini, Bell Vaughan, Powell John, Lewis Cathryn M, Murray Robin M, Bramon Elvi |
| Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children.
Cancers 2020 May 12 (5): . Mateos Marion K, Tulstrup Morten, Quinn Michael Cj, Tuckuviene Ruta, Marshall Glenn M, Gupta Ramneek, Mayoh Chelsea, Wolthers Benjamin O, Barbaro Pasquale M, Ruud Ellen, Sutton Rosemary, Huttunen Pasi, Revesz Tamas, Trakymiene Sonata S, Barbaric Draga, Tedgård Ulf, Giles Jodie E, Alvaro Frank, Jonsson Olafur G, Mechinaud Françoise, Saks Kadri, Catchpoole Daniel, Kotecha Rishi S, Dalla-Pozza Luciano, Chenevix-Trench Georgia, Trahair Toby N, MacGregor Stuart, Schmiegelow Kje |
| Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.
Diabetes 2020 Jan . Forgetta Vincenzo, Manousaki Despoina, Istomine Roman, Ross Stephanie, Tessier Marie-Catherine, Marchand Luc, Li Min, Qu Hui-Qi, Bradfield Jonathan P, Grant Struan F A, Hakonarson Hakon, , Paterson Andrew D, Piccirillo Ciriaco, Polychronakos Constantin, Richards J Bre |
| Analysis of common and rare VPS13C variants in late-onset Parkinson disease. Neurology. Genetics 2020 2 6 (1): 385. Rudakou Uladzislau, Ruskey Jennifer A, Krohn Lynne, Laurent Sandra B, Spiegelman Dan, Greenbaum Lior, Yahalom Gilad, Desautels Alex, Montplaisir Jacques Y, Fahn Stanley, Waters Cheryl H, Levy Oren, Kehoe Caitlin M, Narayan Sushma, Dauvilliers Yves, Dupré Nicolas, Hassin-Baer Sharon, Alcalay Roy N, Rouleau Guy A, Fon Edward A, Gan-Or Z |
| A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.
American journal of physiology. Lung cellular and molecular physiology 2021 Apr . Moll Matthew, Jackson Victoria E, Yu Bing, Grove Megan L, London Stephanie J, Gharib Sina A, Bartz Traci M, Sitlani Colleen M, Dupuis Josée, O'Connor George T, Xu Hanfei, Cassano Patricia A, Patchen Bonnie Kaufmann, Kim Woo Jin, Park Jinkyeong, Kim Kun Hee, Han Buhm, Barr R Graham, Manichaikul Ani, Nguyen Jennifer N, Rich Stephen S, Lahousse Lies, Terzikhan Natalie, Brusselle Guy, Sakornsakolpat Phuwanat, Liu Jiangyuan, Benway Christopher J, Hall Ian P, Tobin Martin D, Wain Louise V, Silverman Edwin K, Cho Michael H, Hobbs Brian |
| Association between gene polymorphism of inflammatory factors, thrombogenic factors, and stress-related proteins and abdominal aortic aneurysm: A meta-analysis and systematic review. Vascular 2022 3 17085381221077502. Weng Yingzheng, Lu Difan, Tang Lijiang, Bao Yizong, Chen Xiaofeng, Junhai Zh |
| The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.
Nature communications 2022 11 13 (1): 6642. Kim Young Jin, Moon Sanghoon, Hwang Mi Yeong, Han Sohee, Jang Hye-Mi, Kong Jinhwa, Shin Dong Mun, Yoon Kyungheon, Kim Sung Min, Lee Jong-Eun, Mahajan Anubha, Park Hyun-Young, McCarthy Mark I, Cho Yoon Shin, Kim Bong- |
| Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts. Scientific reports 2023 12 13 (1): 21866. Amein K Al-Ali, Abdullah M Al-Rubaish, Rudaynah A Alali, Mohammed S Almansori, Mohammed A Al-Jumaan, Abdullah M Alshehri, Mohammed S Al-Madan, ChittiBabu Vatte, Tess Cherlin, Sylvia Young, Shefali S Verma, Grant Morahan, Bobby P C Koeleman, Brendan J Keati |
| Participation of Single-Nucleotide Variants in IFNAR1 and IFNAR2 in the Immune Response against SARS-CoV-2 Infection: A Systematic Review. Pathogens (Basel, Switzerland) 2023 11 12 (11): . María Fernanda López-Bielma, Ramcés Falfán-Valencia, Edgar Abarca-Rojano, Gloria Pérez-Rub |
| Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease. Diabetologia 2024 8 . Jani K Haukka, Anni A Antikainen, Erkka Valo, Anna Syreeni, Emma H Dahlström, Bridget M Lin, Nora Franceschini, Andrzej S Krolewski, Valma Harjutsalo, Per-Henrik Groop, Niina Sandholm, |
| Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease. Nature communications 2024 7 15 (1): 5748. Saedis Saevarsdottir, Kristbjörg Bjarnadottir, Thorsteinn Markusson, Jonas Berglund, Thorunn A Olafsdottir, Gisli H Halldorsson, Gudrun Rutsdottir, Kristbjorg Gunnarsdottir, Asgeir Orn Arnthorsson, Sigrun H Lund, Lilja Stefansdottir, Julius Gudmundsson, Ari J Johannesson, Arni Sturluson, Asmundur Oddsson, Bjarni Halldorsson, Björn R Ludviksson, Egil Ferkingstad, Erna V Ivarsdottir, Gardar Sveinbjornsson, Gerdur Grondal, Gisli Masson, Grimur Hjorleifsson Eldjarn, Gudmundur A Thorisson, Katla Kristjansdottir, Kirk U Knowlton, Kristjan H S Moore, Sigurjon A Gudjonsson, Solvi Rognvaldsson, Stacey Knight, Lincoln D Nadauld, Hilma Holm, Olafur T Magnusson, Patrick Sulem, Daniel F Gudbjartsson, Thorunn Rafnar, Gudmar Thorleifsson, Pall Melsted, Gudmundur L Norddahl, Ingileif Jonsdottir, Kari Stefanss |
| Extended genome-wide association study employing the African genome resources panel identifies novel susceptibility loci for Alzheimer's disease in individuals of African ancestry. Alzheimer's & dementia : the journal of the Alzheimer's Association 2024 7 . Nicholas R Ray, Brian W Kunkle, Kara Hamilton-Nelson, Jiji T Kurup, Farid Rajabli, Min Qiao, Badri N Vardarajan, Mehmet I Cosacak, Caghan Kizil, Melissa Jean-Francois, Michael Cuccaro, Dolly Reyes-Dumeyer, Laura Cantwell, Amanda Kuzma, Jeffery M Vance, Sujuan Gao, Hugh C Hendrie, Olusegun Baiyewu, Adesola Ogunniyi, Rufus O Akinyemi, , Wan-Ping Lee, Eden R Martin, Li-San Wang, Gary W Beecham, William S Bush, Wanying Xu, Fulai Jin, Liyong Wang, Lindsay A Farrer, Jonathan L Haines, Goldie S Byrd, Gerard D Schellenberg, Richard Mayeux, Margaret A Pericak-Vance, Christiane Rei |
| Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. Annals of clinical and translational neurology 2024 5 . Heather Marriott, Thomas P Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A Ba?ak, Johnathan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Vivian Drory, Marc Gotkine, John E Landers, Russell McLaughlin, Jesús S Mora Pardina, Karen E Morrison, Susana Pinto, Christopher E Shaw, Pamela J Shaw, Vincenzo Silani, Nicola Ticozzi, Philip van Damme, Leonard H van den Berg, Patrick Vourc'h, Markus Weber, Jan H Veldink, , Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, Alfredo Iacoange |
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