Charchar F, Zimmerli L, Tomaszewski M: The pressure of finding human hypertension genes: new tools, old dilemmas. J Hum Hypertens. 2008, 22 (12): 821-828. 10.1038/jhh.2008.67.
Article
CAS
PubMed
Google Scholar
Munroe PB, Barnes MR, Caulfield MJ: Advances in blood pressure genomics. Circ Res. 2013, 112 (10): 1365-1379. 10.1161/CIRCRESAHA.112.300387.
Article
CAS
PubMed
Google Scholar
Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sober S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, et al: Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011, 478 (7367): 103-109. 10.1038/nature10405.
Article
CAS
PubMed
Google Scholar
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C: Detection of large-scale variation in the human genome. Nat Genet. 2004, 36 (9): 949-951. 10.1038/ng1416.
Article
CAS
PubMed
Google Scholar
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet. 2005, 77 (1): 78-88. 10.1086/431652.
Article
CAS
PubMed
PubMed Central
Google Scholar
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, et al: Global variation in copy number in the human genome. Nature. 2006, 444 (7118): 444-454. 10.1038/nature05329.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M: Large-scale copy number polymorphism in the human genome. Science. 2004, 305 (5683): 525-528. 10.1126/science.1098918.
Article
CAS
PubMed
Google Scholar
Feuk L, Carson AR, Scherer SW: Structural variation in the human genome. Nat Rev Genet. 2006, 7 (2): 85-97.
Article
CAS
PubMed
Google Scholar
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K: Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 2010, 464 (7289): 713-720. 10.1038/nature08979.
Article
CAS
PubMed
Google Scholar
Aldhous MC, Abu Bakar S, Prescott NJ, Palla R, Soo K, Mansfield JC, Mathew CG, Satsangi J, Armour JA: Measurement methods and accuracy in copy number variation: failure to replicate associations of β-defensin copy number with Crohn’s disease. Hum Mol Genet. 2010, 19 (24): 4930-4938. 10.1093/hmg/ddq411.
Article
CAS
PubMed
PubMed Central
Google Scholar
Sykes PJ, Neoh SH, Brisco MJ, Hughes E, Condon J, Morley AA: Quantitation of targets for PCR by use of limiting dilution. Biotechniques. 1992, 13 (3): 444-449.
CAS
PubMed
Google Scholar
Vogelstein B, Kinzler KW: Digital PCR. Proc Natl Acad Sci U S A. 1999, 96 (16): 9236-9241. 10.1073/pnas.96.16.9236.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hindson BJ, Ness KD, Masquelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, Bright IJ, Lucero MY, Hiddessen AL, Legler TC, Kitano TK, Hodel MR, Petersen JF, Wyatt PW, Steenblock ER, Shah PH, Bousse LJ, Troup CB, Mellen JC, Wittmann DK, Erndt NG, Cauley TH, Koehler RT, So AP, Dube S, Rose KA, Montesclaros L, Wang S, Stumbo DP, Hodges SP: High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011, 83 (22): 8604-8610. 10.1021/ac202028g.
Article
CAS
PubMed
PubMed Central
Google Scholar
Weaver S, Dube S, Mir A, Qin J, Sun G, Ramakrishnan R, Jones RC, Livak KJ: Taking qPCR to a higher level: analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution. Methods. 2010, 50 (4): 271-276. 10.1016/j.ymeth.2010.01.003.
Article
CAS
PubMed
Google Scholar
Whale AS, Huggett JF, Cowen S, Speirs V, Shaw J, Ellison S, Foy CA, Scott DJ: Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation. Nucleic Acids Res. 2012, 40 (11): e82-10.1093/nar/gks203.
Article
CAS
PubMed
PubMed Central
Google Scholar
Froguel P, Blakemore AI: The power of the extreme in elucidating obesity. N Engl J Med. 2008, 359 (9): 891-893. 10.1056/NEJMp0805396.
Article
CAS
PubMed
Google Scholar
Walters RG, Jacquemont S, Valsesia A, De Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chevre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, et al: A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature. 2010, 463 (7281): 671-675. 10.1038/nature08727.
Article
CAS
PubMed
PubMed Central
Google Scholar
Harrap SB, Wong ZY, Stebbing M, Lamantia A, Bahlo M: Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes. Physiol Genomics. 2002, 8 (2): 99-105.
Article
CAS
PubMed
Google Scholar
Ellis JA, Stebbing M, Harrap SB: Male pattern baldness is not associated with established cardiovascular risk factors in the general population. Clin Sci (Lond). 2001, 100 (4): 401-404. 10.1042/CS20000203.
Article
CAS
Google Scholar
Ellis JA, Wong ZY, Stebbing M, Harrap SB: Sex, genes and blood pressure. Clin Exp Pharmacol Physiol. 2001, 28 (12): 1053-1055. 10.1046/j.1440-1681.2001.03579.x.
Article
CAS
PubMed
Google Scholar
Harrap SB, Stebbing M, Hopper JL, Hoang HN, Giles GG: Familial patterns of covariation for cardiovascular risk factors in adults: the Victorian Family Heart Study. Am J Epidemiol. 2000, 152 (8): 704-715. 10.1093/aje/152.8.704.
Article
CAS
PubMed
Google Scholar
Busst CJ, Scurrah KJ, Ellis JA, Harrap SB: Selective genotyping reveals association between the epithelial sodium channel ɣ-subunit and systolic blood pressure. Hypertension. 2007, 50 (4): 672-678. 10.1161/HYPERTENSIONAHA.107.089128.
Article
PubMed
Google Scholar
Vincent M, Boussairi EH, Cartier R, Lo M, Sassolas A, Cerutti C, Barres C, Gustin MP, Cuisinaud G, Samani NJ: High blood pressure and metabolic disorders are associated in the Lyon hypertensive rat. J Hypertens. 1993, 11 (11): 1179-1185.
Article
CAS
PubMed
Google Scholar
Tomaszewski M, Charchar FJ, Nelson CP, Barnes T, Denniff M, Kaiser M, Debiec R, Christofidou P, Rafelt S, van der Harst P, Wang WY, Maric C, Zukowska-Szczechowska E, Samani NJ: Pathway analysis shows association between FGFBP1 and hypertension. J Am Soc Nephrol. 2011, 22 (5): 947-955. 10.1681/ASN.2010080829.
Article
CAS
PubMed
PubMed Central
Google Scholar
Marques FZ, Campain AE, Tomaszewski M, Yang YHJ, Zukowska-Sczechowska E, Charchar FJ, Morris BJ: Gene expression profiling reveals renin mRNA overexpression in human hypertensive kidneys and a role for microRNAs. Hypertension. 2011, 58: 1093-1098. 10.1161/HYPERTENSIONAHA.111.180729.
Article
CAS
PubMed
Google Scholar
MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW: The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res. 2014, 42 (Database issue): D986-D992.
Article
CAS
PubMed
Google Scholar
Huggett JF, Foy CA, Benes V, Emslie K, Garson JA, Haynes R, Hellemans J, Kubista M, Mueller RD, Nolan T, Pfaffl MW, Shipley GL, Vandesompele J, Wittwer CT, Bustin SA: The Digital MIQE Guidelines: Minimum Information for Publication of Quantitative Digital PCR Experiments. Clin Chem. 2013, 59 (6): 892-902. 10.1373/clinchem.2013.206375.
Article
CAS
PubMed
Google Scholar
Schonrock N, Harvey RP, Mattick JS: Long noncoding RNAs in cardiac development and pathophysiology. Circ Res. 2012, 111 (10): 1349-1362. 10.1161/CIRCRESAHA.112.268953.
Article
CAS
PubMed
Google Scholar
Charchar FJ, Kapuscinski MK, Harrap SB: Nerve growth factor gene locus explains elevated renal nerve growth factor mRNA in young spontaneously hypertensive rats. Hypertension. 1998, 32 (4): 705-709. 10.1161/01.HYP.32.4.705.
Article
CAS
PubMed
Google Scholar
Nemoto K, Sekimoto M, Fukamachi K, Kageyama H, Degawa M, Hamadai M, Hendley ED, Macrae IM, Clark JS, Dominiczak AF, Ueyama T: No involvement of the nerve growth factor gene locus in hypertension in spontaneously hypertensive rats. Hypertens Res. 2005, 28 (2): 155-163. 10.1291/hypres.28.155.
Article
CAS
PubMed
Google Scholar
Charchar FJ, Kaiser M, Bingham AJ, Fotinatos N, Ahmady F, Tomaszewski M, Samani NJ: Whole genome survey of copy number variation in the spontaneously hypertensive rat: relationship to quantitative trait loci, gene expression, and blood pressure. Hypertension. 2010, 55 (5): 1231-1238. 10.1161/HYPERTENSIONAHA.109.141663.
Article
CAS
PubMed
Google Scholar
Atanur SS, Birol I, Guryev V, Hirst M, Hummel O, Morrissey C, Behmoaras J, Fernandez-Suarez XM, Johnson MD, McLaren WM, Patone G, Petretto E, Plessy C, Rockland KS, Rockland C, Saar K, Zhao Y, Carninci P, Flicek P, Kurtz T, Cuppen E, Pravenec M, Hubner N, Jones SJ, Birney E, Aitman TJ: The genome sequence of the spontaneously hypertensive rat: analysis and functional significance. Genome Res. 2010, 20 (6): 791-803. 10.1101/gr.103499.109.
Article
CAS
PubMed
PubMed Central
Google Scholar
Chen X, Li X, Wang P, Liu Y, Zhang Z, Zhao G, Xu H, Zhu J, Qin X, Chen S, Hu L, Kong X: Novel association strategy with copy number variation for identifying new risk loci of human diseases. PLoS One. 2010, 5 (8): e12185-10.1371/journal.pone.0012185.
Article
PubMed
PubMed Central
Google Scholar
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll SA, Visscher PM: Finding the missing heritability of complex diseases. Nature. 2009, 461 (7265): 747-753. 10.1038/nature08494.
Article
CAS
PubMed
PubMed Central
Google Scholar
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME: Origins and functional impact of copy number variation in the human genome. Nature. 2010, 464 (7289): 704-712. 10.1038/nature08516.
Article
CAS
PubMed
Google Scholar
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L: Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol. 2011, 29 (6): 512-520. 10.1038/nbt.1852.
Article
CAS
PubMed
PubMed Central
Google Scholar
Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA: An integrated map of genetic variation from 1,092 human genomes. Nature. 2012, 491 (7422): 56-65. 10.1038/nature11632.
Article
PubMed
Google Scholar
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM: Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature. 2012, 492 (7429): 438-442. 10.1038/nature11629.
Article
CAS
PubMed
PubMed Central
Google Scholar
Donner A, Klar N: Design and analysis of cluster randomization trials in health research. 2000, New York, NY: Oxford University Press
Google Scholar
Van Gestel S, Houwing-Duistermaat JJ, Adolfsson R, van Duijn CM, Van Broeckhoven C: Power of selective genotyping in genetic association analyses of quantitative traits. Behav Genet. 2000, 30 (2): 141-146. 10.1023/A:1001907321955.
Article
CAS
PubMed
Google Scholar