Literature DB >> 24707315

The Role of Copy Number Variation in African Americans with Type 2 Diabetes-Associated End Stage Renal Disease.

Jessica N Cooke Bailey1, Lingyi Lu2, Jeff W Chou2, Jianzhao Xu3, David R McWilliams2, Timothy D Howard3, Barry I Freedman4, Donald W Bowden5, Carl D Langefeld2, Nicholette D Palmer6.   

Abstract

This study investigated the association of copy number variants (CNVs) in type 2 diabetes (T2D) and T2D-associated end-stage renal disease (ESRD) in African Americans. Using the Affymetrix 6.0 array, >900,000 CNV probes spanning the genome were interrogated in 965 African Americans with T2D-ESRD and 1029 non-diabetic African American controls. Previously identified and novel CNVs were separately analyzed and were evaluated for insertion/deletion status and then used as predictors in a logistic regression model to test for association. One common CNV insertion on chromosome 1 was significantly associated with T2D-ESRD (p=6.17×10-5, OR=1.63) after multiple comparison correction. This CNV region encompasses the genes AMY2A and AMY2B, which encode amylase isoenzymes produced by the pancreas. Additional common and novel CNVs approaching significance with disease were also detected. These exploratory results require further replication but suggest the involvement of the AMY2A/AMY2B CNV in T2D and/or T2D-ESRD, and indicate that CNVs may contribute to susceptibility for these diseases.

Entities:  

Keywords:  African Americans; Copy number variation; Diabetic nephropathy; End-stage renal disease; Genome-wide association study; Type 2 diabetes

Year:  2013        PMID： 24707315      PMCID： PMC3973178          DOI： 10.4172/1747-0862.1000061

Source DB:  PubMed          Journal:  J Mol Genet Med        ISSN： 1747-0862


  22 in total

1.  Genome-wide association of anthropometric traits in African- and African-derived populations.

Authors:  Sun J Kang; Charleston W K Chiang; Cameron D Palmer; Bamidele O Tayo; Guillaume Lettre; Johannah L Butler; Rachel Hackett; Adebowale A Adeyemo; Candace Guiducci; Ilze Berzins; Thutrang T Nguyen; Tao Feng; Amy Luke; Daniel Shriner; Kristin Ardlie; Charles Rotimi; Rainford Wilks; Terrence Forrester; Colin A McKenzie; Helen N Lyon; Richard S Cooper; Xiaofeng Zhu; Joel N Hirschhorn
Journal:  Hum Mol Genet       Date:  2010-04-16       Impact factor: 6.150

2.  Integrated detection and population-genetic analysis of SNPs and copy number variation.

Authors:  Steven A McCarroll; Finny G Kuruvilla; Joshua M Korn; Simon Cawley; James Nemesh; Alec Wysoker; Michael H Shapero; Paul I W de Bakker; Julian B Maller; Andrew Kirby; Amanda L Elliott; Melissa Parkin; Earl Hubbell; Teresa Webster; Rui Mei; James Veitch; Patrick J Collins; Robert Handsaker; Steve Lincoln; Marcia Nizzari; John Blume; Keith W Jones; Rich Rava; Mark J Daly; Stacey B Gabriel; David Altshuler
Journal:  Nat Genet       Date:  2008-09-07       Impact factor: 38.330

3.  Diet and the evolution of human amylase gene copy number variation.

Authors:  George H Perry; Nathaniel J Dominy; Katrina G Claw; Arthur S Lee; Heike Fiegler; Richard Redon; John Werner; Fernando A Villanea; Joanna L Mountain; Rajeev Misra; Nigel P Carter; Charles Lee; Anne C Stone
Journal:  Nat Genet       Date:  2007-09-09       Impact factor: 38.330

4.  A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Authors:  R G Walters; S Jacquemont; A Valsesia; A J de Smith; D Martinet; J Andersson; M Falchi; F Chen; J Andrieux; S Lobbens; B Delobel; F Stutzmann; J S El-Sayed Moustafa; J-C Chèvre; C Lecoeur; V Vatin; S Bouquillon; J L Buxton; O Boute; M Holder-Espinasse; J-M Cuisset; M-P Lemaitre; A-E Ambresin; A Brioschi; M Gaillard; V Giusti; F Fellmann; A Ferrarini; N Hadjikhani; D Campion; A Guilmatre; A Goldenberg; N Calmels; J-L Mandel; C Le Caignec; A David; B Isidor; M-P Cordier; S Dupuis-Girod; A Labalme; D Sanlaville; M Béri-Dexheimer; P Jonveaux; B Leheup; K Ounap; E G Bochukova; E Henning; J Keogh; R J Ellis; K D Macdermot; M M van Haelst; C Vincent-Delorme; G Plessis; R Touraine; A Philippe; V Malan; M Mathieu-Dramard; J Chiesa; B Blaumeiser; R F Kooy; R Caiazzo; M Pigeyre; B Balkau; R Sladek; S Bergmann; V Mooser; D Waterworth; A Reymond; P Vollenweider; G Waeber; A Kurg; P Palta; T Esko; A Metspalu; M Nelis; P Elliott; A-L Hartikainen; M I McCarthy; L Peltonen; L Carlsson; P Jacobson; L Sjöström; N Huang; M E Hurles; S O'Rahilly; I S Farooqi; K Männik; M-R Jarvelin; F Pattou; D Meyre; A J Walley; L J M Coin; A I F Blakemore; P Froguel; J S Beckmann
Journal:  Nature       Date:  2010-02-04       Impact factor: 49.962

5.  Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.

Authors:  Jae-Pil Jeon; Sung-Mi Shim; Hye-Young Nam; Gil-Mi Ryu; Eun-Jung Hong; Hyung-Lae Kim; Bok-Ghee Han
Journal:  BMC Genomics       Date:  2010-07-12       Impact factor: 3.969

6.  Relative impact of nucleotide and copy number variation on gene expression phenotypes.

Authors:  Barbara E Stranger; Matthew S Forrest; Mark Dunning; Catherine E Ingle; Claude Beazley; Natalie Thorne; Richard Redon; Christine P Bird; Anna de Grassi; Charles Lee; Chris Tyler-Smith; Nigel Carter; Stephen W Scherer; Simon Tavaré; Panagiotis Deloukas; Matthew E Hurles; Emmanouil T Dermitzakis
Journal:  Science       Date:  2007-02-09       Impact factor: 47.728

7.  Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population.

Authors:  Bao-Yong Sha; Tie-Lin Yang; Lan-Juan Zhao; Xiang-Ding Chen; Yan Guo; Yuan Chen; Feng Pan; Zhi-Xin Zhang; Shan-Shan Dong; Xiang-Hong Xu; Hong-Wen Deng
Journal:  J Hum Genet       Date:  2009-02-20       Impact factor: 3.172

8.  Copy number variation in African Americans.

Authors:  Joseph P McElroy; Matthew R Nelson; Stacy J Caillier; Jorge R Oksenberg
Journal:  BMC Genet       Date:  2009-03-24       Impact factor: 2.797

9.  Variants in MTNR1B influence fasting glucose levels.

Authors:  Inga Prokopenko; Claudia Langenberg; Jose C Florez; Richa Saxena; Nicole Soranzo; Gudmar Thorleifsson; Ruth J F Loos; Alisa K Manning; Anne U Jackson; Yurii Aulchenko; Simon C Potter; Michael R Erdos; Serena Sanna; Jouke-Jan Hottenga; Eleanor Wheeler; Marika Kaakinen; Valeriya Lyssenko; Wei-Min Chen; Kourosh Ahmadi; Jacques S Beckmann; Richard N Bergman; Murielle Bochud; Lori L Bonnycastle; Thomas A Buchanan; Antonio Cao; Alessandra Cervino; Lachlan Coin; Francis S Collins; Laura Crisponi; Eco J C de Geus; Abbas Dehghan; Panos Deloukas; Alex S F Doney; Paul Elliott; Nelson Freimer; Vesela Gateva; Christian Herder; Albert Hofman; Thomas E Hughes; Sarah Hunt; Thomas Illig; Michael Inouye; Bo Isomaa; Toby Johnson; Augustine Kong; Maria Krestyaninova; Johanna Kuusisto; Markku Laakso; Noha Lim; Ulf Lindblad; Cecilia M Lindgren; Owen T McCann; Karen L Mohlke; Andrew D Morris; Silvia Naitza; Marco Orrù; Colin N A Palmer; Anneli Pouta; Joshua Randall; Wolfgang Rathmann; Jouko Saramies; Paul Scheet; Laura J Scott; Angelo Scuteri; Stephen Sharp; Eric Sijbrands; Jan H Smit; Kijoung Song; Valgerdur Steinthorsdottir; Heather M Stringham; Tiinamaija Tuomi; Jaakko Tuomilehto; André G Uitterlinden; Benjamin F Voight; Dawn Waterworth; H-Erich Wichmann; Gonneke Willemsen; Jacqueline C M Witteman; Xin Yuan; Jing Hua Zhao; Eleftheria Zeggini; David Schlessinger; Manjinder Sandhu; Dorret I Boomsma; Manuela Uda; Tim D Spector; Brenda Wjh Penninx; David Altshuler; Peter Vollenweider; Marjo Riitta Jarvelin; Edward Lakatta; Gerard Waeber; Caroline S Fox; Leena Peltonen; Leif C Groop; Vincent Mooser; L Adrienne Cupples; Unnur Thorsteinsdottir; Michael Boehnke; Inês Barroso; Cornelia Van Duijn; Josée Dupuis; Richard M Watanabe; Kari Stefansson; Mark I McCarthy; Nicholas J Wareham; James B Meigs; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

10.  Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.

Authors:  Timothy J Aitman; Rong Dong; Timothy J Vyse; Penny J Norsworthy; Michelle D Johnson; Jennifer Smith; Jonathan Mangion; Cheri Roberton-Lowe; Amy J Marshall; Enrico Petretto; Matthew D Hodges; Gurjeet Bhangal; Sheetal G Patel; Kelly Sheehan-Rooney; Mark Duda; Paul R Cook; David J Evans; Jan Domin; Jonathan Flint; Joseph J Boyle; Charles D Pusey; H Terence Cook
Journal:  Nature       Date:  2006-02-16       Impact factor: 49.962
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  3 in total

1.  Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases.

Authors:  Juan R González; Carlos Ruiz-Arenas; Alejandro Cáceres; Ignasi Morán; Marcos López-Sánchez; Lorena Alonso; Ignacio Tolosana; Marta Guindo-Martínez; Josep M Mercader; Tonu Esko; David Torrents; Josefa González; Luis A Pérez-Jurado
Journal:  Am J Hum Genet       Date:  2020-05-28       Impact factor: 11.025

2.  Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes.

Authors:  Danielle Carpenter; Sugandha Dhar; Laura M Mitchell; Beiyuan Fu; Jess Tyson; Nzar A A Shwan; Fengtang Yang; Mark G Thomas; John A L Armour
Journal:  Hum Mol Genet       Date:  2015-03-18       Impact factor: 6.150

3.  Genomic structural variations for cardiovascular and metabolic comorbidity.

Authors:  Maria S Nazarenko; Aleksei A Sleptcov; Igor N Lebedev; Nikolay A Skryabin; Anton V Markov; Maria V Golubenko; Iuliia A Koroleva; Anton N Kazancev; Olga L Barbarash; Valery P Puzyrev
Journal:  Sci Rep       Date:  2017-01-25       Impact factor: 4.379
  3 in total

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