The genomics of major psychiatric disorders in a large pedigree from Northern Sweden

被引：13

作者：

Szatkiewicz, Jin ^{[1
]}

Crowley, James J. ^{[1
]}

Adolfsson, Annelie Nordin ^{[2
]}

Aberg, Karolina A. ^{[3
]}

Alaerts, Maaike ^{[4
,5
]}

Genovese, Giulio ^{[6
]}

McCarroll, Steven ^{[6
]}

Del-Favero, Jurgen ^{[7
,8
]}

Adolfsson, Rolf ^{[2
]}

Sullivan, Patrick F. ^{[1
,9
,10
]}

机构：

[1] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA

[2] Univ Umea, Dept Clin Sci & Psychiat, Umea, Sweden

[3] Virginia Commonwealth Univ, Ctr Biomarker Res & Precis Med, Richmond, VA USA

[4] Univ Antwerp, Ctr Med Genet, Antwerp, Belgium

[5] Antwerp Univ Hosp, Antwerp, Belgium

[6] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[7] VIB Ctr Mol Neurol, Univ Pl 1, Antwerp, Belgium

[8] Multiplicom NV, Galileilaan 18, Niel, Belgium

[9] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27515 USA

[10] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

来源：

TRANSLATIONAL PSYCHIATRY | 2019年 / 9卷 / 1期

基金：

瑞典研究理事会;

关键词：

COPY NUMBER VARIATION; BIPOLAR DISORDER; ASSOCIATION; SCHIZOPHRENIA; INTERVIEW;

D O I：

10.1038/s41398-019-0414-9

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

We searched for genetic causes of major psychiatric disorders (bipolar disorder, schizoaffective disorder, and schizophrenia) in a large, densely affected pedigree from Northern Sweden that originated with three pairs of founders born around 1650. We applied a systematic genomic approach to the pedigree via karyotyping (N = 9), genome-wide SNP arrays (N = 418), whole-exome sequencing (N = 26), and whole-genome sequencing (N = 10). Comprehensive analysis did not identify plausible variants of strong effect. Rather, pedigree cases had significantly higher genetic risk scores compared to pedigree and community controls.

引用

页数：8

共 41 条

[11] Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection [J].

Gazal, Steven ;

Finucane, Hilary K. ;

Furlotte, Nicholas A. ;

Loh, Po-Ru ;

Palamara, Pier Francesco ;

Liu, Xuanyao ;

Schoech, Armin ;

Bulik-Sullivan, Brendan ;

Neale, Benjamin M. ;

Gusev, Alexander ;

Price, Alkes L. .

NATURE GENETICS, 2017, 49 (10) :1421-+

[12] Rediscovering the value of families for psychiatric genetics research [J].

Glahn, David C. ;

Nimgaonkar, Vishwajit L. ;

Raventos, Henriette ;

Contreras, Javier ;

McIntosh, Andrew M. ;

Thomson, Pippa A. ;

Jablensky, Assen ;

McCarthy, Nina S. ;

Charlesworth, Jac C. ;

Blackburn, Nicholas B. ;

Peralta, Juan Manuel ;

Knowles, Emma E. M. ;

Mathias, Samuel R. ;

Ament, Seth A. ;

McMahon, Francis J. ;

Gur, Ruben C. ;

Bucan, Maja ;

Curran, Joanne E. ;

Almasy, Laura ;

Gur, Raquel E. ;

Blangero, John .

MOLECULAR PSYCHIATRY, 2019, 24 (04) :523-535

[13] DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation [J].

Gusev, Alexander ;

Kenny, Eimear E. ;

Lowe, Jennifer K. ;

Salit, Jaqueline ;

Saxena, Richa ;

Kathiresan, Sekar ;

Altshuler, David M. ;

Friedman, Jeffrey M. ;

Breslow, Jan L. ;

Pe'er, Itsik .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (06) :706-717

[14] A map of constrained coding regions in the human genome [J].

Havrilla, James M. ;

Pedersen, Brent S. ;

Layer, Ryan M. ;

Quinlan, Aaron R. .

NATURE GENETICS, 2019, 51 (01) :88-+

[15] The Genetic Structure of the Swedish Population [J].

Humphreys, Keith ;

Grankvist, Alexander ;

Leu, Monica ;

Hall, Per ;

Liu, Jianjun ;

Ripatti, Samuli ;

Rehnstroem, Karola ;

Groop, Leif ;

Klareskog, Lars ;

Ding, Bo ;

Gronberg, Henrik ;

Xu, Jianfeng ;

Pedersen, Nancy L. ;

Lichtenstein, Paul ;

Mattingsdal, Morten ;

Andreassen, Ole A. ;

O'Dushlaine, Colm ;

Purcell, Shaun M. ;

Sklar, Pamela ;

Sullivan, Patrick F. ;

Hultman, Christina M. ;

Palmgren, Juni ;

Magnusson, Patrik K. E. .

PLOS ONE, 2011, 6 (08)

[16] Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs [J].

Lee, S. Hong ;

Ripke, Stephan ;

Neale, Benjamin M. ;

Faraone, Stephen V. ;

Purcell, Shaun M. ;

Perlis, Roy H. ;

Mowry, Bryan J. ;

Thapar, Anita ;

Goddard, Michael E. ;

Witte, John S. ;

Absher, Devin ;

Agartz, Ingrid ;

Akil, Huda ;

Amin, Farooq ;

Andreassen, Ole A. ;

Anjorin, Adebayo ;

Anney, Richard ;

Anttila, Verneri ;

Arking, Dan E. ;

Asherson, Philip ;

Azevedo, Maria H. ;

Backlund, Lena ;

Badner, Judith A. ;

Bailey, Anthony J. ;

Banaschewski, Tobias ;

Barchas, Jack D. ;

Barnes, Michael R. ;

Barrett, Thomas B. ;

Bass, Nicholas ;

Battaglia, Agatino ;

Bauer, Michael ;

Bayes, Monica ;

Bellivier, Frank ;

Bergen, Sarah E. ;

Berrettini, Wade ;

Betancur, Catalina ;

Bettecken, Thomas ;

Biederman, Joseph ;

Binder, Elisabeth B. ;

Black, Donald W. ;

Blackwood, Douglas H. R. ;

Bloss, Cinnamon S. ;

Boehnke, Michael ;

Boomsma, Dorret I. ;

Breen, Gerome ;

Breuer, Rene ;

Bruggeman, Richard ;

Cormican, Paul ;

Buccola, Nancy G. ;

Buitelaar, Jan K. .

NATURE GENETICS, 2013, 45 (09) :984-+

[17] Analysis of protein-coding genetic variation in 60,706 humans [J].

Lek, Monkol ;

Karczewski, Konrad J. ;

Minikel, Eric V. ;

Samocha, Kaitlin E. ;

Banks, Eric ;

Fennell, Timothy ;

O'Donnell-Luria, Anne H. ;

Ware, James S. ;

Hill, Andrew J. ;

Cummings, Beryl B. ;

Tukiainen, Taru ;

Birnbaum, Daniel P. ;

Kosmicki, Jack A. ;

Duncan, Laramie E. ;

Estrada, Karol ;

Zhao, Fengmei ;

Zou, James ;

Pierce-Hollman, Emma ;

Berghout, Joanne ;

Cooper, David N. ;

Deflaux, Nicole ;

DePristo, Mark ;

Do, Ron ;

Flannick, Jason ;

Fromer, Menachem ;

Gauthier, Laura ;

Goldstein, Jackie ;

Gupta, Namrata ;

Howrigan, Daniel ;

Kiezun, Adam ;

Kurki, Mitja I. ;

Moonshine, Ami Levy ;

Natarajan, Pradeep ;

Orozeo, Lorena ;

Peloso, Gina M. ;

Poplin, Ryan ;

Rivas, Manuel A. ;

Ruano-Rubio, Valentin ;

Rose, Samuel A. ;

Ruderfer, Douglas M. ;

Shakir, Khalid ;

Stenson, Peter D. ;

Stevens, Christine ;

Thomas, Brett P. ;

Tiao, Grace ;

Tusie-Luna, Maria T. ;

Weisburd, Ben ;

Won, Hong-Hee ;

Yu, Dongmei ;

Altshuler, David M. .

NATURE, 2016, 536 (7616) :285-+

[18] Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications [J].

Levinson, Douglas F. ;

Duan, Jubao ;

Oh, Sang ;

Wang, Kai ;

Sanders, Alan R. ;

Shi, Jianxin ;

Zhang, Nancy ;

Mowry, Bryan J. ;

Olincy, Ann ;

Amin, Farooq ;

Cloninger, C. Robert ;

Silverman, Jeremy M. ;

Buccola, Nancy G. ;

Byerley, William F. ;

Black, Donald W. ;

Kendler, Kenneth S. ;

Freedman, Robert ;

Dudbridge, Frank ;

Pe'er, Itsik ;

Hakonarson, Hakon ;

Bergen, Sarah E. ;

Fanous, Ayman H. ;

Holmans, Peter A. ;

Gejman, Pablo V. .

AMERICAN JOURNAL OF PSYCHIATRY, 2011, 168 (03) :302-316

[19] Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study [J].

Lichtenstein, Paul ;

Yip, Benjamin H. ;

Bjork, Camilla ;

Pawitan, Yudi ;

Cannon, Tyrone D. ;

Sullivan, Patrick F. ;

Hultman, Christina M. .

LANCET, 2009, 373 (9659) :234-239

[20] Genetic risk scores and family history as predictors of schizophrenia in Nordic registers [J].

Lu, Y. ;

Pouget, J. G. ;

Andreassen, O. A. ;

Djurovic, S. ;

Esko, T. ;

Hultman, C. M. ;

Metspalu, A. ;

Milani, L. ;

Werge, T. ;

Sullivan, P. F. .

PSYCHOLOGICAL MEDICINE, 2018, 48 (07) :1201-1208

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