Literature DB >> 26506900

Small island, big genetic discoveries.

Guillaume Lettre1, Joel N Hirschhorn2.   

Abstract

Three new studies have identified new genes and sequence variants implicated in blood lipids, inflammatory markers, hemoglobin levels and adult height variation in Sardinia. These reports highlight the usefulness of large-scale genotype imputation based on whole-genome sequencing, particularly in isolated populations, in studying the genetics of complex human phenotypes.

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Year:  2015        PMID： 26506900     DOI： 10.1038/ng.3426

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  9 in total

Review 1.  Use of population isolates for mapping complex traits.

Authors:  L Peltonen; A Palotie; K Lange
Journal:  Nat Rev Genet       Date:  2000-12       Impact factor: 53.242

Review 2.  Modifier genes in Mendelian disorders: the example of hemoglobin disorders.

Authors:  Vijay G Sankaran; Guillaume Lettre; Stuart H Orkin; Joel N Hirschhorn
Journal:  Ann N Y Acad Sci       Date:  2010-10-29       Impact factor: 5.691

3.  Detection of sharing by descent, long-range phasing and haplotype imputation.

Authors:  Augustine Kong; Gisli Masson; Michael L Frigge; Arnaldur Gylfason; Pasha Zusmanovich; Gudmar Thorleifsson; Pall I Olason; Andres Ingason; Stacy Steinberg; Thorunn Rafnar; Patrick Sulem; Magali Mouy; Frosti Jonsson; Unnur Thorsteinsdottir; Daniel F Gudbjartsson; Hreinn Stefansson; Kari Stefansson
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

4.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

5.  Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

Authors:  Fabrice Danjou; Magdalena Zoledziewska; Carlo Sidore; Maristella Steri; Fabio Busonero; Andrea Maschio; Antonella Mulas; Lucia Perseu; Susanna Barella; Eleonora Porcu; Giorgio Pistis; Maristella Pitzalis; Mauro Pala; Stephan Menzel; Sarah Metrustry; Timothy D Spector; Lidia Leoni; Andrea Angius; Manuela Uda; Paolo Moi; Swee Lay Thein; Renzo Galanello; Gonçalo R Abecasis; David Schlessinger; Serena Sanna; Francesco Cucca
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330

6.  Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Authors:  Ron Do; Nathan O Stitziel; Hong-Hee Won; Anders Berg Jørgensen; Stefano Duga; Pier Angelica Merlini; Adam Kiezun; Martin Farrall; Anuj Goel; Or Zuk; Illaria Guella; Rosanna Asselta; Leslie A Lange; Gina M Peloso; Paul L Auer; Domenico Girelli; Nicola Martinelli; Deborah N Farlow; Mark A DePristo; Robert Roberts; Alexander F R Stewart; Danish Saleheen; John Danesh; Stephen E Epstein; Suthesh Sivapalaratnam; G Kees Hovingh; John J Kastelein; Nilesh J Samani; Heribert Schunkert; Jeanette Erdmann; Svati H Shah; William E Kraus; Robert Davies; Majid Nikpay; Christopher T Johansen; Jian Wang; Robert A Hegele; Eliana Hechter; Winfried Marz; Marcus E Kleber; Jie Huang; Andrew D Johnson; Mingyao Li; Greg L Burke; Myron Gross; Yongmei Liu; Themistocles L Assimes; Gerardo Heiss; Ethan M Lange; Aaron R Folsom; Herman A Taylor; Oliviero Olivieri; Anders Hamsten; Robert Clarke; Dermot F Reilly; Wu Yin; Manuel A Rivas; Peter Donnelly; Jacques E Rossouw; Bruce M Psaty; David M Herrington; James G Wilson; Stephen S Rich; Michael J Bamshad; Russell P Tracy; L Adrienne Cupples; Daniel J Rader; Muredach P Reilly; John A Spertus; Sharon Cresci; Jaana Hartiala; W H Wilson Tang; Stanley L Hazen; Hooman Allayee; Alex P Reiner; Christopher S Carlson; Charles Kooperberg; Rebecca D Jackson; Eric Boerwinkle; Eric S Lander; Stephen M Schwartz; David S Siscovick; Ruth McPherson; Anne Tybjaerg-Hansen; Goncalo R Abecasis; Hugh Watkins; Deborah A Nickerson; Diego Ardissino; Shamil R Sunyaev; Christopher J O'Donnell; David Altshuler; Stacey Gabriel; Sekar Kathiresan
Journal:  Nature       Date:  2014-12-10       Impact factor: 49.962

7.  Defining the role of common variation in the genomic and biological architecture of adult human height.

Authors:  Andrew R Wood; Tonu Esko; Jian Yang; Sailaja Vedantam; Tune H Pers; Stefan Gustafsson; Audrey Y Chu; Karol Estrada; Jian'an Luan; Zoltán Kutalik; Najaf Amin; Martin L Buchkovich; Damien C Croteau-Chonka; Felix R Day; Yanan Duan; Tove Fall; Rudolf Fehrmann; Teresa Ferreira; Anne U Jackson; Juha Karjalainen; Ken Sin Lo; Adam E Locke; Reedik Mägi; Evelin Mihailov; Eleonora Porcu; Joshua C Randall; André Scherag; Anna A E Vinkhuyzen; Harm-Jan Westra; Thomas W Winkler; Tsegaselassie Workalemahu; Jing Hua Zhao; Devin Absher; Eva Albrecht; Denise Anderson; Jeffrey Baron; Marian Beekman; Ayse Demirkan; Georg B Ehret; Bjarke Feenstra; Mary F Feitosa; Krista Fischer; Ross M Fraser; Anuj Goel; Jian Gong; Anne E Justice; Stavroula Kanoni; Marcus E Kleber; Kati Kristiansson; Unhee Lim; Vaneet Lotay; Julian C Lui; Massimo Mangino; Irene Mateo Leach; Carolina Medina-Gomez; Michael A Nalls; Dale R Nyholt; Cameron D Palmer; Dorota Pasko; Sonali Pechlivanis; Inga Prokopenko; Janina S Ried; Stephan Ripke; Dmitry Shungin; Alena Stancáková; Rona J Strawbridge; Yun Ju Sung; Toshiko Tanaka; Alexander Teumer; Stella Trompet; Sander W van der Laan; Jessica van Setten; Jana V Van Vliet-Ostaptchouk; Zhaoming Wang; Loïc Yengo; Weihua Zhang; Uzma Afzal; Johan Arnlöv; Gillian M Arscott; Stefania Bandinelli; Amy Barrett; Claire Bellis; Amanda J Bennett; Christian Berne; Matthias Blüher; Jennifer L Bolton; Yvonne Böttcher; Heather A Boyd; Marcel Bruinenberg; Brendan M Buckley; Steven Buyske; Ida H Caspersen; Peter S Chines; Robert Clarke; Simone Claudi-Boehm; Matthew Cooper; E Warwick Daw; Pim A De Jong; Joris Deelen; Graciela Delgado; Josh C Denny; Rosalie Dhonukshe-Rutten; Maria Dimitriou; Alex S F Doney; Marcus Dörr; Niina Eklund; Elodie Eury; Lasse Folkersen; Melissa E Garcia; Frank Geller; Vilmantas Giedraitis; Alan S Go; Harald Grallert; Tanja B Grammer; Jürgen Gräßler; Henrik Grönberg; Lisette C P G M de Groot; Christopher J Groves; Jeffrey Haessler; Per Hall; Toomas Haller; Goran Hallmans; Anke Hannemann; Catharina A Hartman; Maija Hassinen; Caroline Hayward; Nancy L Heard-Costa; Quinta Helmer; Gibran Hemani; Anjali K Henders; Hans L Hillege; Mark A Hlatky; Wolfgang Hoffmann; Per Hoffmann; Oddgeir Holmen; Jeanine J Houwing-Duistermaat; Thomas Illig; Aaron Isaacs; Alan L James; Janina Jeff; Berit Johansen; Åsa Johansson; Jennifer Jolley; Thorhildur Juliusdottir; Juhani Junttila; Abel N Kho; Leena Kinnunen; Norman Klopp; Thomas Kocher; Wolfgang Kratzer; Peter Lichtner; Lars Lind; Jaana Lindström; Stéphane Lobbens; Mattias Lorentzon; Yingchang Lu; Valeriya Lyssenko; Patrik K E Magnusson; Anubha Mahajan; Marc Maillard; Wendy L McArdle; Colin A McKenzie; Stela McLachlan; Paul J McLaren; Cristina Menni; Sigrun Merger; Lili Milani; Alireza Moayyeri; Keri L Monda; Mario A Morken; Gabriele Müller; Martina Müller-Nurasyid; Arthur W Musk; Narisu Narisu; Matthias Nauck; Ilja M Nolte; Markus M Nöthen; Laticia Oozageer; Stefan Pilz; Nigel W Rayner; Frida Renstrom; Neil R Robertson; Lynda M Rose; Ronan Roussel; Serena Sanna; Hubert Scharnagl; Salome Scholtens; Fredrick R Schumacher; Heribert Schunkert; Robert A Scott; Joban Sehmi; Thomas Seufferlein; Jianxin Shi; Karri Silventoinen; Johannes H Smit; Albert Vernon Smith; Joanna Smolonska; Alice V Stanton; Kathleen Stirrups; David J Stott; Heather M Stringham; Johan Sundström; Morris A Swertz; Ann-Christine Syvänen; Bamidele O Tayo; Gudmar Thorleifsson; Jonathan P Tyrer; Suzanne van Dijk; Natasja M van Schoor; Nathalie van der Velde; Diana van Heemst; Floor V A van Oort; Sita H Vermeulen; Niek Verweij; Judith M Vonk; Lindsay L Waite; Melanie Waldenberger; Roman Wennauer; Lynne R Wilkens; Christina Willenborg; Tom Wilsgaard; Mary K Wojczynski; Andrew Wong; Alan F Wright; Qunyuan Zhang; Dominique Arveiler; Stephan J L Bakker; John Beilby; Richard N Bergman; Sven Bergmann; Reiner Biffar; John Blangero; Dorret I Boomsma; Stefan R Bornstein; Pascal Bovet; Paolo Brambilla; Morris J Brown; Harry Campbell; Mark J Caulfield; Aravinda Chakravarti; Rory Collins; Francis S Collins; Dana C Crawford; L Adrienne Cupples; John Danesh; Ulf de Faire; Hester M den Ruijter; Raimund Erbel; Jeanette Erdmann; Johan G Eriksson; Martin Farrall; Ele Ferrannini; Jean Ferrières; Ian Ford; Nita G Forouhi; Terrence Forrester; Ron T Gansevoort; Pablo V Gejman; Christian Gieger; Alain Golay; Omri Gottesman; Vilmundur Gudnason; Ulf Gyllensten; David W Haas; Alistair S Hall; Tamara B Harris; Andrew T Hattersley; Andrew C Heath; Christian Hengstenberg; Andrew A Hicks; Lucia A Hindorff; Aroon D Hingorani; Albert Hofman; G Kees Hovingh; Steve E Humphries; Steven C Hunt; Elina Hypponen; Kevin B Jacobs; Marjo-Riitta Jarvelin; Pekka Jousilahti; Antti M Jula; Jaakko Kaprio; John J P Kastelein; Manfred Kayser; Frank Kee; Sirkka M Keinanen-Kiukaanniemi; Lambertus A Kiemeney; Jaspal S Kooner; Charles Kooperberg; Seppo Koskinen; Peter Kovacs; Aldi T Kraja; Meena Kumari; Johanna Kuusisto; Timo A Lakka; Claudia Langenberg; Loic Le Marchand; Terho Lehtimäki; Sara Lupoli; Pamela A F Madden; Satu Männistö; Paolo Manunta; André Marette; Tara C Matise; Barbara McKnight; Thomas Meitinger; Frans L Moll; Grant W Montgomery; Andrew D Morris; Andrew P Morris; Jeffrey C Murray; Mari Nelis; Claes Ohlsson; Albertine J Oldehinkel; Ken K Ong; Willem H Ouwehand; Gerard Pasterkamp; Annette Peters; Peter P Pramstaller; Jackie F Price; Lu Qi; Olli T Raitakari; Tuomo Rankinen; D C Rao; Treva K Rice; Marylyn Ritchie; Igor Rudan; Veikko Salomaa; Nilesh J Samani; Jouko Saramies; Mark A Sarzynski; Peter E H Schwarz; Sylvain Sebert; Peter Sever; Alan R Shuldiner; Juha Sinisalo; Valgerdur Steinthorsdottir; Ronald P Stolk; Jean-Claude Tardif; Anke Tönjes; Angelo Tremblay; Elena Tremoli; Jarmo Virtamo; Marie-Claude Vohl; Philippe Amouyel; Folkert W Asselbergs; Themistocles L Assimes; Murielle Bochud; Bernhard O Boehm; Eric Boerwinkle; Erwin P Bottinger; Claude Bouchard; Stéphane Cauchi; John C Chambers; Stephen J Chanock; Richard S Cooper; Paul I W de Bakker; George Dedoussis; Luigi Ferrucci; Paul W Franks; Philippe Froguel; Leif C Groop; Christopher A Haiman; Anders Hamsten; M Geoffrey Hayes; Jennie Hui; David J Hunter; Kristian Hveem; J Wouter Jukema; Robert C Kaplan; Mika Kivimaki; Diana Kuh; Markku Laakso; Yongmei Liu; Nicholas G Martin; Winfried März; Mads Melbye; Susanne Moebus; Patricia B Munroe; Inger Njølstad; Ben A Oostra; Colin N A Palmer; Nancy L Pedersen; Markus Perola; Louis Pérusse; Ulrike Peters; Joseph E Powell; Chris Power; Thomas Quertermous; Rainer Rauramaa; Eva Reinmaa; Paul M Ridker; Fernando Rivadeneira; Jerome I Rotter; Timo E Saaristo; Danish Saleheen; David Schlessinger; P Eline Slagboom; Harold Snieder; Tim D Spector; Konstantin Strauch; Michael Stumvoll; Jaakko Tuomilehto; Matti Uusitupa; Pim van der Harst; Henry Völzke; Mark Walker; Nicholas J Wareham; Hugh Watkins; H-Erich Wichmann; James F Wilson; Pieter Zanen; Panos Deloukas; Iris M Heid; Cecilia M Lindgren; Karen L Mohlke; Elizabeth K Speliotes; Unnur Thorsteinsdottir; Inês Barroso; Caroline S Fox; Kari E North; David P Strachan; Jacques S Beckmann; Sonja I Berndt; Michael Boehnke; Ingrid B Borecki; Mark I McCarthy; Andres Metspalu; Kari Stefansson; André G Uitterlinden; Cornelia M van Duijn; Lude Franke; Cristen J Willer; Alkes L Price; Guillaume Lettre; Ruth J F Loos; Michael N Weedon; Erik Ingelsson; Jeffrey R O'Connell; Goncalo R Abecasis; Daniel I Chasman; Michael E Goddard; Peter M Visscher; Joel N Hirschhorn; Timothy M Frayling
Journal:  Nat Genet       Date:  2014-10-05       Impact factor: 38.330

8.  Height-reducing variants and selection for short stature in Sardinia.

Authors:  Magdalena Zoledziewska; Carlo Sidore; Charleston W K Chiang; Serena Sanna; Antonella Mulas; Maristella Steri; Fabio Busonero; Joseph H Marcus; Michele Marongiu; Andrea Maschio; Diego Ortega Del Vecchyo; Matteo Floris; Antonella Meloni; Alessandro Delitala; Maria Pina Concas; Federico Murgia; Ginevra Biino; Simona Vaccargiu; Ramaiah Nagaraja; Kirk E Lohmueller; Nicholas J Timpson; Nicole Soranzo; Ioanna Tachmazidou; George Dedoussis; Eleftheria Zeggini; Sergio Uzzau; Chris Jones; Robert Lyons; Andrea Angius; Gonçalo R Abecasis; John Novembre; David Schlessinger; Francesco Cucca
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330

9.  Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Authors:  Carlo Sidore; Fabio Busonero; Andrea Maschio; Eleonora Porcu; Silvia Naitza; Magdalena Zoledziewska; Antonella Mulas; Giorgio Pistis; Maristella Steri; Fabrice Danjou; Alan Kwong; Vicente Diego Ortega Del Vecchyo; Charleston W K Chiang; Jennifer Bragg-Gresham; Maristella Pitzalis; Ramaiah Nagaraja; Brendan Tarrier; Christine Brennan; Sergio Uzzau; Christian Fuchsberger; Rossano Atzeni; Frederic Reinier; Riccardo Berutti; Jie Huang; Nicholas J Timpson; Daniela Toniolo; Paolo Gasparini; Giovanni Malerba; George Dedoussis; Eleftheria Zeggini; Nicole Soranzo; Chris Jones; Robert Lyons; Andrea Angius; Hyun M Kang; John Novembre; Serena Sanna; David Schlessinger; Francesco Cucca; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2015-09-14       Impact factor: 38.330
  9 in total
  7 in total

Review 1.  Family studies to find rare high risk variants in migraine.

Authors:  Rikke Dyhr Hansen; Anne Francke Christensen; Jes Olesen
Journal:  J Headache Pain       Date:  2017-03-02       Impact factor: 7.277

2.  Genome-wide analysis of Corsican population reveals a close affinity with Northern and Central Italy.

Authors:  Erika Tamm; Julie Di Cristofaro; Stéphane Mazières; Erwan Pennarun; Alena Kushniarevich; Alessandro Raveane; Ornella Semino; Jacques Chiaroni; Luisa Pereira; Mait Metspalu; Francesco Montinaro
Journal:  Sci Rep       Date:  2019-09-19       Impact factor: 4.379

3.  Ankylosing Spondylitis: A Trade Off of HLA-B27, ERAP, and Pathogen Interconnections? Focus on Sardinia.

Authors:  Fabiana Paladini; Maria Teresa Fiorillo; Valentina Tedeschi; Alberto Cauli; Alessandro Mathieu; Rosa Sorrentino
Journal:  Front Immunol       Date:  2019-01-25       Impact factor: 7.561

4.  Fine-Scale Genetic Structure and Demographic History in the Miyako Islands of the Ryukyu Archipelago.

Authors:  Masatoshi Matsunami; Kae Koganebuchi; Minako Imamura; Hajime Ishida; Ryosuke Kimura; Shiro Maeda
Journal:  Mol Biol Evol       Date:  2021-05-04       Impact factor: 16.240

5.  Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan.

Authors:  Zhaoqing Yang; Hao Chen; Yan Lu; Yang Gao; Hao Sun; Jiucun Wang; Li Jin; Jiayou Chu; Shuhua Xu
Journal:  BMC Biol       Date:  2022-07-21       Impact factor: 7.364

6.  Genomic history of the Sardinian population.

Authors:  Charleston W K Chiang; Joseph H Marcus; Carlo Sidore; Arjun Biddanda; Hussein Al-Asadi; Magdalena Zoledziewska; Maristella Pitzalis; Fabio Busonero; Andrea Maschio; Giorgio Pistis; Maristella Steri; Andrea Angius; Kirk E Lohmueller; Goncalo R Abecasis; David Schlessinger; Francesco Cucca; John Novembre
Journal:  Nat Genet       Date:  2018-09-17       Impact factor: 38.330

Review 7.  Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population.

Authors:  Stefano Angioni; Maurizio Nicola D'Alterio; Alessandra Coiana; Franco Anni; Stefano Gessa; Danilo Deiana
Journal:  Int J Mol Sci       Date:  2020-03-04       Impact factor: 5.923
  7 in total

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