日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

一项关于甲状腺相关性状的荟萃分析揭示了甲状腺功能调节中的新基因位点和性别差异

Porcu, Eleonora; Medici, Marco; Pistis, Giorgio; Volpato, Claudia B; Wilson, Scott G; Cappola, Anne R; Bos, Steffan D; Deelen, Joris; den Heijer, Martin; Freathy, Rachel M; Lahti, Jari; Liu, Chunyu; Lopez, Lorna M; Nolte, Ilja M; O'Connell, Jeffrey R; Tanaka, Toshiko; Trompet, Stella; Arnold, Alice; Bandinelli, Stefania; Beekman, Marian; Böhringer, Stefan; Brown, Suzanne J; Buckley, Brendan M; Camaschella, Clara; de Craen, Anton J M; Davies, Gail; de Visser, Marieke C H; Ford, Ian; Forsen, Tom; Frayling, Timothy M; Fugazzola, Laura; Gögele, Martin; Hattersley, Andrew T; Hermus, Ad R; Hofman, Albert; Houwing-Duistermaat, Jeanine J; Jensen, Richard A; Kajantie, Eero; Kloppenburg, Margreet; Lim, Ee M; Masciullo, Corrado; Mariotti, Stefano; Minelli, Cosetta; Mitchell, Braxton D; Nagaraja, Ramaiah; Netea-Maier, Romana T; Palotie, Aarno; Persani, Luca; Piras, Maria G; Psaty, Bruce M; Räikkönen, Katri; Richards, J Brent; Rivadeneira, Fernando; Sala, Cinzia; Sabra, Mona M; Sattar, Naveed; Shields, Beverley M; Soranzo, Nicole; Starr, John M; Stott, David J; Sweep, Fred C G J; Usala, Gianluca; van der Klauw, Melanie M; van Heemst, Diana; van Mullem, Alies; Vermeulen, Sita H; Visser, W Edward; Walsh, John P; Westendorp, Rudi G J; Widen, Elisabeth; Zhai, Guangju; Cucca, Francesco; Deary, Ian J; Eriksson, Johan G; Ferrucci, Luigi; Fox, Caroline S; Jukema, J Wouter; Kiemeney, Lambertus A; Pramstaller, Peter P; Schlessinger, David; Shuldiner, Alan R; Slagboom, Eline P; Uitterlinden, André G; Vaidya, Bijay; Visser, Theo J; Wolffenbuttel, Bruce H R; Meulenbelt, Ingrid; Rotter, Jerome I; Spector, Tim D; Hicks, Andrew A; Toniolo, Daniela; Sanna, Serena; Peeters, Robin P; Naitza, Silvia

A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.

对撒丁岛居民炎症标志物水平的全基因组关联扫描揭示了支撑其复杂调控的关联

Naitza Silvia, Porcu Eleonora, Steri Maristella, Taub Dennis D, Mulas Antonella, Xiao Xiang, Strait James, Dei Mariano, Lai Sandra, Busonero Fabio, Maschio Andrea, Usala Gianluca, Zoledziewska Magdalena, Sidore Carlo, Zara Ilenia, Pitzalis Maristella, Loi Alessia, Virdis Francesca, Piras Roberta, Deidda Francesca, Whalen Michael B, Crisponi Laura, Concas Antonio, Podda Carlo, Uzzau Sergio, Scheet Paul, Longo Dan L, Lakatta Edward, Abecasis Gonçalo R, Cao Antonio, Schlessinger David, Uda Manuela, Sanna Serena, Cucca Francesco

Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque

CHARGE联盟全基因组关联研究的荟萃分析确定了与颈动脉内膜中层厚度和斑块相关的常见变异

Bis, Joshua C; Kavousi, Maryam; Franceschini, Nora; Isaacs, Aaron; Abecasis, Gonçalo R; Schminke, Ulf; Post, Wendy S; Smith, Albert V; Cupples, L Adrienne; Markus, Hugh S; Schmidt, Reinhold; Huffman, Jennifer E; Lehtimäki, Terho; Baumert, Jens; Münzel, Thomas; Heckbert, Susan R; Dehghan, Abbas; North, Kari; Oostra, Ben; Bevan, Steve; Stoegerer, Eva-Maria; Hayward, Caroline; Raitakari, Olli; Meisinger, Christa; Schillert, Arne; Sanna, Serena; Völzke, Henry; Cheng, Yu-Ching; Thorsson, Bolli; Fox, Caroline S; Rice, Kenneth; Rivadeneira, Fernando; Nambi, Vijay; Halperin, Eran; Petrovic, Katja E; Peltonen, Leena; Wichmann, H Erich; Schnabel, Renate B; Dörr, Marcus; Parsa, Afshin; Aspelund, Thor; Demissie, Serkalem; Kathiresan, Sekar; Reilly, Muredach P; Taylor, Kent; Uitterlinden, Andre; Couper, David J; Sitzer, Matthias; Kähönen, Mika; Illig, Thomas; Wild, Philipp S; Orru, Marco; Lüdemann, Jan; Shuldiner, Alan R; Eiriksdottir, Gudny; White, Charles C; Rotter, Jerome I; Hofman, Albert; Seissler, Jochen; Zeller, Tanja; Usala, Gianluca; Ernst, Florian; Launer, Lenore J; D'Agostino, Ralph B Sr; O'Leary, Daniel H; Ballantyne, Christie; Thiery, Joachim; Ziegler, Andreas; Lakatta, Edward G; Chilukoti, Ravi Kumar; Harris, Tamara B; Wolf, Philip A; Psaty, Bruce M; Polak, Joseph F; Li, Xia; Rathmann, Wolfgang; Uda, Manuela; Boerwinkle, Eric; Klopp, Norman; Schmidt, Helena; Wilson, James F; Viikari, Jorma; Koenig, Wolfgang; Blankenberg, Stefan; Newman, Anne B; Witteman, Jacqueline; Heiss, Gerardo; Duijn, Cornelia van; Scuteri, Angelo; Homuth, Georg; Mitchell, Braxton D; Gudnason, Vilmundur; O'Donnell, Christopher J

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways

10个基因组位点的常见变异通过血糖和非血糖途径影响糖化血红蛋白A₁(C)水平

Soranzo, Nicole; Sanna, Serena; Wheeler, Eleanor; Gieger, Christian; Radke, Dörte; Dupuis, Josée; Bouatia-Naji, Nabila; Langenberg, Claudia; Prokopenko, Inga; Stolerman, Elliot; Sandhu, Manjinder S; Heeney, Matthew M; Devaney, Joseph M; Reilly, Muredach P; Ricketts, Sally L; Stewart, Alexandre F R; Voight, Benjamin F; Willenborg, Christina; Wright, Benjamin; Altshuler, David; Arking, Dan; Balkau, Beverley; Barnes, Daniel; Boerwinkle, Eric; Böhm, Bernhard; Bonnefond, Amélie; Bonnycastle, Lori L; Boomsma, Dorret I; Bornstein, Stefan R; Böttcher, Yvonne; Bumpstead, Suzannah; Burnett-Miller, Mary Susan; Campbell, Harry; Cao, Antonio; Chambers, John; Clark, Robert; Collins, Francis S; Coresh, Josef; de Geus, Eco J C; Dei, Mariano; Deloukas, Panos; Döring, Angela; Egan, Josephine M; Elosua, Roberto; Ferrucci, Luigi; Forouhi, Nita; Fox, Caroline S; Franklin, Christopher; Franzosi, Maria Grazia; Gallina, Sophie; Goel, Anuj; Graessler, Jürgen; Grallert, Harald; Greinacher, Andreas; Hadley, David; Hall, Alistair; Hamsten, Anders; Hayward, Caroline; Heath, Simon; Herder, Christian; Homuth, Georg; Hottenga, Jouke-Jan; Hunter-Merrill, Rachel; Illig, Thomas; Jackson, Anne U; Jula, Antti; Kleber, Marcus; Knouff, Christopher W; Kong, Augustine; Kooner, Jaspal; Köttgen, Anna; Kovacs, Peter; Krohn, Knut; Kühnel, Brigitte; Kuusisto, Johanna; Laakso, Markku; Lathrop, Mark; Lecoeur, Cécile; Li, Man; Li, Mingyao; Loos, Ruth J F; Luan, Jian'an; Lyssenko, Valeriya; Mägi, Reedik; Magnusson, Patrik K E; Mälarstig, Anders; Mangino, Massimo; Martínez-Larrad, María Teresa; März, Winfried; McArdle, Wendy L; McPherson, Ruth; Meisinger, Christa; Meitinger, Thomas; Melander, Olle; Mohlke, Karen L; Mooser, Vincent E; Morken, Mario A; Narisu, Narisu; Nathan, David M; Nauck, Matthias; O'Donnell, Chris; Oexle, Konrad; Olla, Nazario; Pankow, James S; Payne, Felicity; Peden, John F; Pedersen, Nancy L; Peltonen, Leena; Perola, Markus; Polasek, Ozren; Porcu, Eleonora; Rader, Daniel J; Rathmann, Wolfgang; Ripatti, Samuli; Rocheleau, Ghislain; Roden, Michael; Rudan, Igor; Salomaa, Veikko; Saxena, Richa; Schlessinger, David; Schunkert, Heribert; Schwarz, Peter; Seedorf, Udo; Selvin, Elizabeth; Serrano-Ríos, Manuel; Shrader, Peter; Silveira, Angela; Siscovick, David; Song, Kjioung; Spector, Timothy D; Stefansson, Kari; Steinthorsdottir, Valgerdur; Strachan, David P; Strawbridge, Rona; Stumvoll, Michael; Surakka, Ida; Swift, Amy J; Tanaka, Toshiko; Teumer, Alexander; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tönjes, Anke; Usala, Gianluca; Vitart, Veronique; Völzke, Henry; Wallaschofski, Henri; Waterworth, Dawn M; Watkins, Hugh; Wichmann, H-Erich; Wild, Sarah H; Willemsen, Gonneke; Williams, Gordon H; Wilson, James F; Winkelmann, Juliane; Wright, Alan F; Zabena, Carina; Zhao, Jing Hua; Epstein, Stephen E; Erdmann, Jeanette; Hakonarson, Hakon H; Kathiresan, Sekar; Khaw, Kay-Tee; Roberts, Robert; Samani, Nilesh J; Fleming, Mark D; Sladek, Robert; Abecasis, Gonçalo; Boehnke, Michael; Froguel, Philippe; Groop, Leif; McCarthy, Mark I; Kao, W H Linda; Florez, Jose C; Uda, Manuela; Wareham, Nicholas J; Barroso, Inês; Meigs, James B

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations

全基因组关联研究:维生素B6、维生素B12、叶酸和同型半胱氨酸血液浓度

Tanaka, Toshiko; Scheet, Paul; Giusti, Betti; Bandinelli, Stefania; Piras, Maria Grazia; Usala, Gianluca; Lai, Sandra; Mulas, Antonella; Corsi, Anna Maria; Vestrini, Anna; Sofi, Francesco; Gori, Anna Maria; Abbate, Rosanna; Guralnik, Jack; Singleton, Andrew; Abecasis, Goncalo R; Schlessinger, David; Uda, Manuela; Ferrucci, Luigi

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia

SLCO1B3基因座的常见变异与胆红素水平和非结合型高胆红素血症相关。

Sanna, Serena; Busonero, Fabio; Maschio, Andrea; McArdle, Patrick F; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, Maria Grazia; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; Abecasis, Gonçalo R; Shuldiner, Alan R; Schlessinger, David; Cao, Antonio; Uda, Manuela

Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function

磷酸二酯酶8B基因变异与血清促甲状腺激素(TSH)水平和甲状腺功能相关。

Arnaud-Lopez, Lisette; Usala, Gianluca; Ceresini, Graziano; Mitchell, Braxton D; Pilia, Maria Grazia; Piras, Maria Grazia; Sestu, Natascia; Maschio, Andrea; Busonero, Fabio; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Crisponi, Laura; Tanaka, Toshiko; Bandinelli, Stefania; Guralnik, Jack M; Loi, Angela; Balaci, Lenuta; Sole, Gabriella; Prinzis, Alessia; Mariotti, Stefano; Shuldiner, Alan R; Cao, Antonio; Schlessinger, David; Uda, Manuela; Abecasis, Gonçalo R; Nagaraja, Ramaiah; Sanna, Serena; Naitza, Silvia

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

克里斯波尼综合征是由CRLF1基因突变引起的,与1型冷诱发性出汗综合征属于同一等位基因。

Crisponi, Laura; Crisponi, Giangiorgio; Meloni, Alessandra; Toliat, Mohammad Reza; Nurnberg, Gudrun; Usala, Gianluca; Uda, Manuela; Masala, Marco; Hohne, Wolfgang; Becker, Christian; Marongiu, Mara; Chiappe, Francesca; Kleta, Robert; Rauch, Anita; Wollnik, Bernd; Strasser, Friedrich; Reese, Thomas; Jakobs, Cornelis; Kurlemann, Gerd; Cao, Antonio; Nurnberg, Peter; Rutsch, Frank