{"id":51423,"date":"2024-12-17T15:44:22","date_gmt":"2024-12-17T15:44:22","guid":{"rendered":""},"modified":"2024-12-17T15:44:22","modified_gmt":"2024-12-17T15:44:22","slug":"%d8%aa%d8%b1%d8%ac%d9%85%d9%87-%d9%81%d8%a7%d8%b1%d8%b3%db%8c-%d9%85%d9%82%d8%a7%d9%84%d9%87-51423","status":"publish","type":"product","link":"https:\/\/express24.ir\/d\/product\/%d8%aa%d8%b1%d8%ac%d9%85%d9%87-%d9%81%d8%a7%d8%b1%d8%b3%db%8c-%d9%85%d9%82%d8%a7%d9%84%d9%87-51423\/","title":{"rendered":"\u062a\u0631\u062c\u0645\u0647 \u0641\u0627\u0631\u0633\u06cc \u0645\u0642\u0627\u0644\u0647 \u0645\u06a9\u0627\u0646\u200c\u0647\u0627\u06cc \u0698\u0646\u0648\u0645\u06cc \u0628\u0627 \u0646\u0642\u0634\u0647\u200c\u0628\u0631\u062f\u0627\u0631\u06cc \u062f\u0642\u06cc\u0642\u060c \u0698\u0646\u200c\u0647\u0627\u06cc \u062e\u0637\u0631 \u0627\u062e\u062a\u0644\u0627\u0644 \u062f\u0648\u0642\u0637\u0628\u06cc \u0631\u0627 \u0627\u0635\u0644\u0627\u062d \u0645\u06cc\u200c\u06a9\u0646\u0646\u062f"},"content":{"rendered":"\n\n\n\n\n\n\n\n\n\n\n\n
\u0639\u0646\u0648\u0627\u0646 \u0645\u0642\u0627\u0644\u0647 \u0628\u0647 \u0627\u0646\u06af\u0644\u06cc\u0633\u06cc <\/td>\nFine-mapping genomic loci refines bipolar disorder risk genes<\/td>\n<\/tr>\n
\u0639\u0646\u0648\u0627\u0646 \u0645\u0642\u0627\u0644\u0647 \u0628\u0647 \u0641\u0627\u0631\u0633\u06cc <\/td>\n\u062a\u0631\u062c\u0645\u0647 \u0641\u0627\u0631\u0633\u06cc \u0645\u0642\u0627\u0644\u0647 \u0645\u06a9\u0627\u0646\u200c\u0647\u0627\u06cc \u0698\u0646\u0648\u0645\u06cc \u0628\u0627 \u0646\u0642\u0634\u0647\u200c\u0628\u0631\u062f\u0627\u0631\u06cc \u062f\u0642\u06cc\u0642\u060c \u0698\u0646\u200c\u0647\u0627\u06cc \u062e\u0637\u0631 \u0627\u062e\u062a\u0644\u0627\u0644 \u062f\u0648\u0642\u0637\u0628\u06cc \u0631\u0627 \u0627\u0635\u0644\u0627\u062d \u0645\u06cc\u200c\u06a9\u0646\u0646\u062f<\/td>\n<\/tr>\n
\u0646\u0648\u06cc\u0633\u0646\u062f\u06af\u0627\u0646 <\/td>\n ProfileMaria Koromina, ProfileAshvin Ravi, ProfileGeorgia Panagiotaropoulou, ProfileBrian M. Schilder, ProfileJack Humphrey, ProfileAlice Braun, Tim Bidgeli, Chris Chatzinakos, ProfileBrandon Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, ProfileKevin S. O.\u2019Connell, Mark Adams, ProfileRolf Adolfsson, ProfileMartin Alda, ProfileLars Alfredsson, ProfileTill F. M. Andlauer, ProfileOle A. Andreassen, ProfileAnastasia Antoniou, ProfileBernhard T. Baune, ProfileSusanne Bengesser, ProfileJoanna Biernacka, ProfileMichael Boehnke, ProfileRosa Bosch, ProfileMurray J. Cairns, ProfileVaughan J. Carr, Miquel Casas, Stanley Catts, ProfileSven Cichon, ProfileAiden Corvin, ProfileNicholas Craddock, ProfileKonstantinos Dafnas, ProfileNina Dalkner, ProfileUdo Dannlowski, ProfileFranziska Degenhardt, ProfileArianna Di Florio, ProfileDimitris Dikeos, ProfileFrederike Tabea Fellendorf, ProfilePanagiotis Ferentinos, ProfileAndreas J. Forstner, ProfileLiz Forty, ProfileMark Frye, ProfileJanice M. Fullerton, ProfileMicha Gawlik, ProfileIan R. Gizer, ProfileKatherine Gordon-Smith, Melissa J. Green, ProfileMaria Grigoroiu-Serbanescu, ProfileJos\u00e9 Guzman-Parra, Tim Hahn, ProfileFrans Henskens, Jan Hillert, Assen V. Jablensky, ProfileLisa Jones, ProfileIan Jones, ProfileLina Jonsson, ProfileJohn R. Kelsoe, ProfileTilo Kircher, ProfileGeorge Kirov, ProfileSarah Kittel-Schneider, ProfileManolis Kogevinas, ProfileMikael Land\u00e9n, ProfileMarion Leboyer, Melanie Lenger, ProfileJolanta Lissowska, ProfileChristine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G. Martin, ProfileEirini Maratou, ProfileCarol A. Mathews, ProfileFermin Mayoral, ProfileSusan L. McElroy, ProfileNathaniel W. McGregor, ProfileAndrew McIntosh, ProfileAndrew McQuillin, Patricia Michie, Philip B. Mitchell, ProfileParaskevi Moutsatsou, Bryan Mowry, Bertram M\u00fcller-Myhsok, ProfileRichard M. Myers, Igor Nenadi\u0107, ProfileCaroline Nievergelt, ProfileMarkus M. N\u00f6then, ProfileJohn Nurnberger, ProfileMichael O.\u2019Donovan, ProfileClaire O\u2019Donovan, ProfileRoel A. Ophoff, ProfileMichael J. Owen, ProfileChristos Pantelis, ProfileCarlos Pato, ProfileMichele T. Pato, ProfileGeorge P. Patrinos, ProfileJoanna M. Pawlak, ProfileRoy H. Perlis, Evgenia Porichi, ProfileDanielle Posthuma, Josep Antoni Ramos-Quiroga, ProfileAndreas Reif, ProfileEva Z. Reininghaus, ProfileMarta Ribas\u00e9s, ProfileMarcella Rietschel, Ulrich Schall, ProfilePeter R. Schofield, ProfileThomas G. Schulze, ProfileLaura Scott, ProfileRodney J. Scott, ProfileAlessandro Serretti, Cynthia Shannon Weickert, ProfileJordan W. Smoller, ProfileMaria Soler Artigas, ProfileDan J. Stein, ProfileFabian Streit, Claudio Toma, Paul Tooney, ProfileMarquis P. Vawter, ProfileEduard Vieta, ProfileJohn B. Vincent, ProfileIrwin D. Waldman, Thomas Weickert, ProfileStephanie H. Witt, ProfileKyung Sue Hong, ProfileMasashi Ikeda, Nakao Iwata, Beata \u015awi\u0105tkowska, ProfileHong-Hee Won, ProfileHoward J. Edenberg, ProfileStephan Ripke, ProfileTowfique Raj, ProfileJonathan R. I. Coleman, ProfileNiamh Mullins<\/td>\n<\/tr>\n
\u0641\u0631\u0645\u062a \u0645\u0642\u0627\u0644\u0647 \u0627\u0646\u06af\u0644\u06cc\u0633\u06cc <\/td>\nPDF<\/td>\n<\/tr>\n
\u0632\u0628\u0627\u0646 \u0645\u0642\u0627\u0644\u0647 \u062a\u062d\u0648\u06cc\u0644\u06cc <\/td>\n\u062a\u0631\u062c\u0645\u0647 \u0641\u0627\u0631\u0633\u06cc<\/td>\n<\/tr>\n
\u0641\u0631\u0645\u062a \u0645\u0642\u0627\u0644\u0647 \u062a\u0631\u062c\u0645\u0647 \u0634\u062f\u0647 <\/td>\n\u0628\u0647 \u0635\u0648\u0631\u062a \u0641\u0627\u06cc\u0644 \u0648\u0631\u062f<\/td>\n<\/tr>\n
\u0646\u062d\u0648\u0647 \u062a\u062d\u0648\u06cc\u0644 \u062a\u0631\u062c\u0645\u0647 <\/td>\n\u062f\u0648 \u062a\u0627 \u0633\u0647 \u0631\u0648\u0632 \u067e\u0633 \u0627\u0632 \u062b\u0628\u062a \u0633\u0641\u0627\u0631\u0634 (\u0628\u0647 \u0635\u0648\u0631\u062a \u0641\u0627\u06cc\u0644 \u062f\u0627\u0646\u0644\u0648\u062f\u06cc)<\/td>\n<\/tr>\n
\u062a\u0639\u062f\u0627\u062f \u0635\u0641\u062d\u0627\u062a<\/td>\n31<\/td>\n<\/tr>\n
\u0644\u06cc\u0646\u06a9 \u062f\u0627\u0646\u0644\u0648\u062f \u0631\u0627\u06cc\u06af\u0627\u0646 \u0645\u0642\u0627\u0644\u0647 \u0627\u0646\u06af\u0644\u06cc\u0633\u06cc<\/td>\n\u062f\u0627\u0646\u0644\u0648\u062f \u0645\u0642\u0627\u0644\u0647<\/a><\/td>\n<\/tr>\n
\u062f\u0633\u062a\u0647 \u0628\u0646\u062f\u06cc \u0645\u0648\u0636\u0648\u0639\u0627\u062a <\/td>\nPsychiatry and Clinical Psychology
\n\u0631\u0648\u0627\u0646\u0634\u0646\u0627\u0633\u06cc \u0631\u0648\u0627\u0646\u067e\u0632\u0634\u06a9\u06cc \u0648 \u0628\u0627\u0644\u06cc\u0646\u06cc<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\r\n\r\n \r\n \r\n \r\n \r\n
\u0641\u0631\u0645\u062a \u0627\u0631\u0627\u0626\u0647 \u062a\u0631\u062c\u0645\u0647 \u0645\u0642\u0627\u0644\u0647 <\/td>\r\n \u062a\u062d\u0648\u06cc\u0644 \u0628\u0647 \u0635\u0648\u0631\u062a \u0641\u0627\u06cc\u0644 \u0648\u0631\u062f<\/td>\r\n <\/tr>\r\n
\u0632\u0645\u0627\u0646 \u062a\u062d\u0648\u06cc\u0644 \u062a\u0631\u062c\u0645\u0647 \u0645\u0642\u0627\u0644\u0647 <\/td>\r\n \u0628\u06cc\u0646 2 \u062a\u0627 3 \u0631\u0648\u0632 \u067e\u0633 \u0627\u0632 \u062b\u0628\u062a \u0633\u0641\u0627\u0631\u0634<\/td>\r\n <\/tr>\r\n\t
\u06a9\u06cc\u0641\u06cc\u062a \u062a\u0631\u062c\u0645\u0647 <\/td>\r\n \u0628\u0633\u06cc\u0627\u0631 \u0628\u0627\u0644\u0627. \u0645\u0642\u0627\u0644\u0647 \u0641\u0642\u0637 \u062a\u0648\u0633\u0637 \u0645\u062a\u0631\u062c\u0645\u06cc\u0646 \u0628\u0627 \u0645\u062f\u0631\u06a9 \u062f\u0627\u0646\u0634\u06af\u0627\u0647\u06cc \u0645\u062a\u0631\u062c\u0645\u06cc \u062a\u0631\u062c\u0645\u0647 \u0645\u06cc\u200c\u0634\u0648\u062f.<\/td>\r\n <\/tr>\r\n\t\t
\u062c\u062f\u0627\u0648\u0644 \u0648 \u0641\u0631\u0645\u0648\u0644 \u0647\u0627 <\/td>\r\n \u06a9\u0644\u06cc\u0647 \u062c\u062f\u0627\u0648\u0644 \u0648 \u0641\u0631\u0645\u0648\u0644 \u0647\u0627 \u0646\u06cc\u0632 \u062f\u0631 \u0641\u0627\u06cc\u0644 \u062a\u062d\u0648\u06cc\u0644\u06cc \u0648\u0631\u062f \u062f\u0631\u062c \u0645\u06cc\u200c\u0634\u0648\u0646\u062f.<\/td>\r\n <\/tr>\r\n<\/table>\r\n\r\n\n

\u0686\u06a9\u06cc\u062f\u0647<\/h2>\n

Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 17 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD. Convergent lines of evidence supported the roles of genes involved in neurotransmission and neurodevelopment including SCN2A, TRANK1, DCLK3, INSYN2B, SYNE1, THSD7A, CACNA1B, TUBBP5, PLCB3, PRDX5, KCNK4, CRTC3, AP001453.3, TRPT1, FKBP2, DNAJC4, RASGRP1, FURIN, FES, DPH1, GSDMB, MED24 and THRA in BD. These represent promising candidates for functional experiments to understand biological mechanisms and therapeutic potential. Additionally, we demonstrated that fine-mapping effect sizes can improve performance of BD polygenic risk scores across diverse populations, and present a high-throughput fine-mapping pipeline (https:\/\/github.com\/mkoromina\/SAFFARI).<\/p>\n

\u0686\u06a9\u06cc\u062f\u0647 \u0628\u0647 \u0641\u0627\u0631\u0633\u06cc (\u062a\u0631\u062c\u0645\u0647 \u0645\u0627\u0634\u06cc\u0646\u06cc)<\/h2>\n

\u0627\u062e\u062a\u0644\u0627\u0644 \u062f\u0648 \u0642\u0637\u0628\u06cc (BD) \u06cc\u06a9 \u0628\u06cc\u0645\u0627\u0631\u06cc \u0631\u0648\u0627\u0646\u06cc \u0627\u0631\u062b\u06cc \u0628\u0627 \u0639\u0644\u062a \u067e\u06cc\u0686\u06cc\u062f\u0647 \u0627\u0633\u062a.\u062f\u0631 \u062d\u0627\u0644\u06cc \u06a9\u0647 \u0628\u0632\u0631\u06af\u062a\u0631\u06cc\u0646 \u0645\u0637\u0627\u0644\u0639\u0647 \u0627\u0646\u062c\u0645\u0646 \u0698\u0646\u0648\u0645 \u0645\u0646\u062a\u0634\u0631 \u0634\u062f\u0647 64 \u0645\u062d\u0644 \u062e\u0637\u0631 BD \u0631\u0627 \u0645\u0634\u062e\u0635 \u06a9\u0631\u062f \u060c SNP \u0647\u0627\u06cc \u0639\u0644\u06cc \u0648 \u0698\u0646 \u0647\u0627\u06cc \u0645\u0648\u062c\u0648\u062f \u062f\u0631 \u0627\u06cc\u0646 \u0645\u06a9\u0627\u0646 \u0647\u0627 \u0646\u0627\u0634\u0646\u0627\u062e\u062a\u0647 \u0647\u0633\u062a\u0646\u062f.\u0645\u0627 \u0645\u062c\u0645\u0648\u0639\u0647 \u0627\u06cc \u0627\u0632 \u0631\u0648\u0634 \u0647\u0627\u06cc \u0622\u0645\u0627\u0631\u06cc \u0648 \u06a9\u0627\u0631\u0628\u0631\u062f\u06cc \u0646\u0642\u0634\u0647 \u0628\u0631\u062f\u0627\u0631\u06cc \u0631\u06cc\u0632 \u0631\u0627 \u0628\u0631\u0627\u06cc \u0627\u06cc\u0646 \u0645\u06a9\u0627\u0646 \u0647\u0627 \u0627\u0639\u0645\u0627\u0644 \u06a9\u0631\u062f\u06cc\u0645 \u0648 17 SNP \u0647\u0627\u06cc \u0639\u0644\u0651\u06cc \u0627\u062d\u062a\u0645\u0627\u0644\u06cc \u0628\u0631\u0627\u06cc BD \u0631\u0627 \u062f\u0631 \u0627\u0648\u0644\u0648\u06cc\u062a \u0642\u0631\u0627\u0631 \u062f\u0627\u062f\u06cc\u0645.\u0645\u0627 \u0627\u06cc\u0646 SNP \u0647\u0627 \u0631\u0627 \u0628\u0647 \u0698\u0646 \u0647\u0627 \u0646\u0642\u0634\u0647 \u0628\u0631\u062f\u0627\u0631\u06cc \u06a9\u0631\u062f\u06cc\u0645 \u0648 \u0628\u0627 \u0627\u062f\u063a\u0627\u0645 \u062d\u0627\u0634\u06cc\u0647 \u0646\u0648\u06cc\u0633\u06cc \u0647\u0627\u06cc \u0645\u062e\u062a\u0644\u0641 \u060c \u062d\u0627\u0634\u06cc\u0647 \u0646\u0648\u06cc\u0633\u06cc \u0627\u0632 \u0646\u0648\u0639 \u0627\u067e\u06cc \u0698\u0646\u0648\u0645\u06cc\u06a9 \u0633\u0644\u0648\u0644 \u060c \u0645\u062d\u0644\u0648\u0644 \u0635\u0641\u062a \u06a9\u0645\u06cc \u0645\u063a\u0632 \u0648 \u0646\u062a\u0627\u06cc\u062c \u062d\u0627\u0635\u0644 \u0627\u0632 \u062a\u0648\u0627\u0644\u06cc \u0627\u06af\u0632\u0648\u0645 \u0646\u0648\u0639 \u0646\u0627\u062f\u0631 \u062f\u0631 BD \u060c \u067e\u06cc\u0627\u0645\u062f\u0647\u0627\u06cc \u0639\u0645\u0644\u06a9\u0631\u062f\u06cc \u0622\u0646\u0647\u0627 \u0631\u0627 \u0628\u0631\u0631\u0633\u06cc \u06a9\u0631\u062f\u06cc\u0645.\u062e\u0637\u0648\u0637 \u0647\u0645\u06af\u0631\u0627 \u0634\u0648\u0627\u0647\u062f \u0627\u0632 \u0646\u0642\u0634 \u0698\u0646\u0647\u0627\u06cc \u062f\u0631\u06af\u06cc\u0631 \u062f\u0631 \u0627\u0646\u062a\u0642\u0627\u0644 \u0639\u0635\u0628\u06cc \u0648 \u062a\u0648\u0633\u0639\u0647 \u0639\u0635\u0628\u06cc \u0627\u0632 \u062c\u0645\u0644\u0647 SCN2A \u060c TRANK1 \u060c DCLK3 \u060c Insyn2b \u060c Syne1 \u060c Thsd7a \u060c Cacna1b \u060c tubbp5 \u060c plcb3 \u060c prdx5 \u060c kcnk4 \u060c crtc3 \u060c ap001453.3 \u060c trpt1 \u067e\u0634\u062a\u06cc\u0628\u0627\u0646\u06cc \u0645\u06cc \u06a9\u0646\u062f.\u060c \u0641\u0648\u0631\u06cc\u0646 \u060c FES \u060c DPH1 \u060c GSDMB \u060c MED24 \u0648 THRA \u062f\u0631 Bd.\u0627\u06cc\u0646\u0647\u0627 \u06a9\u0627\u0646\u062f\u06cc\u062f\u0627\u0647\u0627\u06cc \u0627\u0645\u06cc\u062f\u0648\u0627\u0631 \u06a9\u0646\u0646\u062f\u0647 \u0627\u06cc \u0631\u0627 \u0628\u0631\u0627\u06cc \u0622\u0632\u0645\u0627\u06cc\u0634 \u0647\u0627\u06cc \u0639\u0645\u0644\u06a9\u0631\u062f\u06cc \u0628\u0631\u0627\u06cc \u062f\u0631\u06a9 \u0645\u06a9\u0627\u0646\u06cc\u0633\u0645 \u0647\u0627\u06cc \u0628\u06cc\u0648\u0644\u0648\u0698\u06cc\u06a9\u06cc \u0648 \u067e\u062a\u0627\u0646\u0633\u06cc\u0644 \u062f\u0631\u0645\u0627\u0646\u06cc \u0646\u0634\u0627\u0646 \u0645\u06cc \u062f\u0647\u0646\u062f.\u0639\u0644\u0627\u0648\u0647 \u0628\u0631 \u0627\u06cc\u0646 \u060c \u0645\u0627 \u0646\u0634\u0627\u0646 \u062f\u0627\u062f\u06cc\u0645 \u06a9\u0647 \u0627\u0646\u062f\u0627\u0632\u0647 \u0627\u062b\u0631 \u0646\u0642\u0634\u0647 \u0628\u0631\u062f\u0627\u0631\u06cc \u0631\u06cc\u0632 \u0645\u06cc \u062a\u0648\u0627\u0646\u062f \u0639\u0645\u0644\u06a9\u0631\u062f \u0646\u0645\u0631\u0627\u062a \u0631\u06cc\u0633\u06a9 \u067e\u0644\u06cc \u0698\u0646\u06cc\u06a9 BD \u0631\u0627 \u062f\u0631 \u062c\u0645\u0639\u06cc\u062a \u0647\u0627\u06cc \u0645\u062a\u0646\u0648\u0639 \u0628\u0647\u0628\u0648\u062f \u0628\u062e\u0634\u062f \u060c \u0648 \u06cc\u06a9 \u062e\u0637 \u0644\u0648\u0644\u0647 \u0628\u0627 \u0633\u0631\u0639\u062a \u0628\u0627\u0644\u0627 (https:\/\/github.com\/mkoromina\/saffari) \u0627\u0631\u0627\u0626\u0647 \u062f\u0647\u062f.<\/p>\n\r\n\r\n \r\n \r\n \r\n \r\n
\u0641\u0631\u0645\u062a \u0627\u0631\u0627\u0626\u0647 \u062a\u0631\u062c\u0645\u0647 \u0645\u0642\u0627\u0644\u0647 <\/td>\r\n \u062a\u062d\u0648\u06cc\u0644 \u0628\u0647 \u0635\u0648\u0631\u062a \u0641\u0627\u06cc\u0644 \u0648\u0631\u062f<\/td>\r\n <\/tr>\r\n
\u0632\u0645\u0627\u0646 \u062a\u062d\u0648\u06cc\u0644 \u062a\u0631\u062c\u0645\u0647 \u0645\u0642\u0627\u0644\u0647 <\/td>\r\n \u0628\u06cc\u0646 2 \u062a\u0627 3 \u0631\u0648\u0632 \u067e\u0633 \u0627\u0632 \u062b\u0628\u062a \u0633\u0641\u0627\u0631\u0634<\/td>\r\n <\/tr>\r\n\t
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