Recent genome-wide association studies

Systematic association mapping identifies NELL1 as a novel IBD disease gene.

  • PLoS ONE. 2007; 2: e691 Article
  • Franke A, Hampe J, Rosenstiel P, Becker C, Wagner F, Häsler R, Little RD, Huse K, Ruether A, Balschun T, Wittig M, Elsharawy A, Mayr G, Albrecht M, Prescott NJ, Onnie CM, Fournier H, Keith T, Radelof U, Platzer M, Mathew CG, Stoll M, Krawczak M, Nürnberg P, Schreiber S
  • 116,161 SNPs in 393 cases and 399 controls
  • rs1793004 in NELL1 (11p15.1). Also confirmed NOD2, 5q31 haplotype and 5p13.1 CD locus.

Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population

  • Kidney Int Suppl. 2007 Aug ; : S43-8  ; Article
  • Maeda S, Osawa N, Hayashi T, Tsukada S, Kobayashi M, Kikkawa R
  • 100,000 SNPs in 94 nephropathy cases and 94 controls
  • SLC12A3 (16q13): rs2289116; ELMO1(7p14): rs741301

Whole-Genome Analysis of Sporadic Amyotrophic Lateral Sclerosis

  • New England Journal of Medicine. August 1, 2007 (10.1056/NEJMoa070174); Article
  • Travis Dunckley, Matthew J. Huentelman, David W. Craig, John V. Pearson, Szabolcs Szelinger, Keta Joshipura, Rebecca F. Halperin, Chelsea Stamper, Kendall R. Jensen, David Letizia, Sharon E. Hesterlee, Alan Pestronk, Todd Levine, Tulio Bertorini, Michael C. Graves, Tahseen Mozaffar, Carlayne E. Jackson, Peter Bosch, April McVey, Arthur Dick, Richard Barohn, Catherine Lomen-Hoerth, Jeffrey Rosenfeld, Daniel T. O'Connor, Kuixing Zhang, Richard Crook, Henrik Ryberg, Michael Hutton, Jonathan Katz, Ericka P. Simpson, Hiroshi Mitsumoto, Robert Bowser, Robert G. Miller, Stanley H. Appel, and Dietrich A. Stephan.
  • 766,955 SNPs in 386 cases and 542 controls
  • 10 loci replicated in three studies, 41 in at least two studies. Most significant: SNP rs6690993 near FLJ10986 (P=3.0x10–4, OR 1.35 [95% CI 1.13 to 1.62])

A whole genome association study of neuroticism using DNA pooling.

  • Mol Psychiatry. 2007 Jul 31; Article
  • Shifman S, Bhomra A, Smiley S, Wray NR, James MR, Martin NG, Hettema JM, An SS, Neale MC, van den Oord EJ, Kendler KS, Chen X, Boomsma DI, Middeldorp CM, Hottenga JJ, Slagboom PE, Flint J.
  • 452,574 SNPs in DNA pools from approx 2000 individuals.
  • one SNP within the PDE4D replicated in some but not all samples.

Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits.

  • PLoS Genet. 2007 Jul 20; 3(7): e115 Article
  • Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagaraja R, Orrú M, Usala G, Dei M, Lai S, Maschio A, Busonero F, Mulas A, Ehret GB, Fink AA, Weder AB, Cooper RS, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E, Abecasis GR.
  • ~500,000 SNPs in 1,412 subjects and ~10,000 SNPs in 3,329 subjects. 362,129 SNPs tested against BMI, hip circumference, and weight.
  • rs9930506 (FTO) and rs6602024 (PFKP).

Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study

  • New England Journal of Medicine Published Online July 29, 2007; Article
  •  The International Multiple Sclerosis Genetics Consortium.
  • 334,923 SNPs in 931 trios.
  • Two SNPs in IL2RA, one in IL7RA and multiple in the HLA-DRA locus.

A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1

  • Science Express Published Online July 19, 2007; Article
  • Jacques Fellay, Kevin V. Shianna, Dongliang Ge, Sara Colombo, Bruno Ledergerber, Mike Weale, Kunlin Zhang, Curtis Gumbs, Antonella Castagna, Andrea Cossarizza, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Patrick Francioli, Simon Mallal, Javier Martinez-Picado, José M. Miro, Niels Obel, Jason P. Smith, Josiane Wyniger, Patrick Descombes, Stylianos E. Antonarakis, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Amalio Telenti, David B. Goldstein.
  • 550,000 SNPs in 486 patients.
  • Variants in HLA-B and HLA-C.

Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.

  • Nat Genet. 2007 Jul 18; Article
  • Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T.
  • 236,758 SNPs in 401 cases and 1,644 controls.
  • rs2300478 within MEIS1 and other SNPs in that 32-kb LD block, a 113kb LD block around BTBD9 (5 SNPs) and a 48kb LD block around MAP2K5 (7 SNPs).

Genomewide Association Analysis of Coronary Artery Disease.

  • New England Journal of Medicine: online July 18, 2007 Article
  • Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, Dixon RJ, Meitinger T, Braund P, Wichmann HE, Barrett JH, König IR, Stevens SE, Szymczak S, Tregouet DA, Iles MM, Pahlke F, Pollard H, Lieb W, Cambien F, Fischer M, Ouwehand W, Blankenberg S, Balmforth AJ, Baessler A, Ball SG, Strom TM, Brænne I, Gieger C, Deloukas P, Tobin MD, Ziegler A, Thompson JR, Schunkert H.
  • 377,857 SNPs in 1926 case subjects and 2938 controls and 272,602 SNPs in 870 and 772 cases and 1644 controls.
  • rs1333049 on 9p21.3, rs6922269 (6q25.1), rs2943634 (2q36.3), rs599839 (1p13.3), rs17465637 (1q41), rs501120 (10q11.21), rs17228212 (15q22.33).

A Genetic Risk Factor for Periodic Limb Movements in Sleep

  • New England Journal of Medicine: online July 18, 2007 Article
  • Hreinn Stefansson, David B. Rye, Andrew Hicks, Hjorvar Petursson, Andres Ingason, Thorgeir E. Thorgeirsson, Stefan Palsson, Thordur Sigmundsson, Albert P. Sigurdsson, Ingibjorg Eiriksdottir, Emilia Soebech, Donald Bliwise, Joseph M. Beck, Ami Rosen, Salina Waddy, Lynn M. Trotti, Alex Iranzo, Madhav Thambisetty, Gudmundur A. Hardarson, Kristleifur Kristjansson, Larus J. Gudmundsson, Unnur Thorsteinsdottir, Augustine Kong, Jeffrey R. Gulcher, Daniel Gudbjartsson, and Kari Stefansson.
  • 306,937 SNPs in 306 cases and 15,664 controls
  • rs3923809 and rs6923737 in an intron of BTBD9 on chromosome 6p21.2.

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

  • Nature advance online publication 15 July 2007; Article
  • Hakon Hakonarson, Struan F. A. Grant, Jonathan P. Bradfield, Luc Marchand, Cecilia E. Kim, Joseph T. Glessner, Rosemarie Grabs, Tracy Casalunovo, Shayne P. Taback, Edward C. Frackelton, Margaret L. Lawson, Luke J. Robinson, Robert Skraban, Yang Lu, Rosetta M. Chiavacci, Charles A. Stanley, Susan E. Kirsch, Eric F. Rappaport, Jordan S. Orange, Dimitri S. Monos, Marcella Devoto, Hui-Qi Qu  &  Constantin Polychronakos.
  • 550,000 SNPs in 563 cases and 1,146 controls plus 483 T1D family trios
  • a 233-kb LD block on chromosome 16p13 containing KIAA0350, including rs2903692, rs725613 and rs17673553 in that gene.

A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease

  • Nature Genetics. 2007 Jul 15; Article
  • Stephan Buch, Clemens Schafmayer, Henry Völzke, Christian Becker, Andre Franke, Huberta von Eller-Eberstein, Christian Kluck, Ingelore Bässmann, Mario Brosch, Frank Lammert, Juan Francisco Miquel, Flavio Nervi, Michael Wittig, Dieter Rosskopf, Birgit Timm, Christine Höll, Marcus Seeger, Abdou ElSharawy, Tim Lu, Jan Egberts, Fred Fändrich, Ulrich R Fölsch, Michael Krawczak, Stefan Schreiber, Peter Nürnberg, Jürgen Tepel  &  Jochen Hampe.
  • >500,000 SNPs in 280 cases and 360 controls
  • SNP A-1791411 in ABCG8, attributed to rs11887534 (D19H)

A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.

  • Nature Genetics. 2007 Jul 8; Article
  • Tomlinson I, Webb E, Carvajal-Carmona L, Broderick P, Kemp Z, Spain S, Penegar S, Chandler I, Gorman M, Wood W, Barclay E, Lubbe S, Martin L, Sellick G, Jaeger E, Hubner R, Wild R, Rowan A, Fielding S, Howarth K, Silver A, Atkin W, Muir K, Logan R, Kerr D, Johnstone E, Sieber O, Gray R, Thomas H, Peto J, Cazier JB, Houlston R.
  • 550,000 SNPs in 930 cases and 960 controls
  • rs6983267 at 8q24.21

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24.

  • Nature Genetics. 2007 Jul 8; Article
  • Zanke BW, Greenwood CM, Rangrej J, Kustra R, Tenesa A, Farrington SM, Prendergast J, Olschwang S, Chiang T, Crowdy E, Ferretti V, Laflamme P, Sundararajan S, Roumy S, Olivier JF, Robidoux F, Sladek R, Montpetit A, Campbell P, Bezieau S, O'shea AM, Zogopoulos G, Cotterchio M, Newcomb P, McLaughlin J, Younghusband B, Green R, Green J, Porteous ME, Campbell H, Blanche H, Sahbatou M, Tubacher E, Bonaiti-Pellié C, Buecher B, Riboli E, Kury S, Chanock SJ, Potter J, Thomas G, Gallinger S, Hudson TJ, Dunlop MG.
  • 99,632 SNPs in 1,257 cases and 1,336 controls
  • one locus at 8q24 (near SNPs rs10505477 and rs6983267, confirmed by replication) and another at 9p24 (near rs719725 and rs7857826)

Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.

  • Nature. 2007 Jul 4; Article
  • Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A, Rietschel E, Heinzmann A, Simma B, Frischer T, Willis-Owen SA, Wong KC, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO.
  • >317,000 SNPs in 994 cases and 1,243 controls
  • multiple markers on chromosome 17q21, most strongly associated marker: rs8067378

Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

  • Nat Genet. 2007 Jul 1; [Epub ahead of print] Article
  • Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A, Rafnar T, Gudbjartsson D, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Blondal T, Stacey SN, Helgason A, Gunnarsdottir S, Olafsdottir A, Kristinsson KT, Birgisdottir B, Ghosh S, Thorlacius S, Magnusdottir D, Stefansdottir G, Kristjansson K, Bagger Y, Wilensky RL, Reilly MP, Morris AD, Kimber CH, Adeyemo A, Chen Y, Zhou J, So WY, Tong PC, Ng MC, Hansen T, Andersen G, Borch-Johnsen K, Jorgensen T, Tres A, Fuertes F, Ruiz-Echarri M, Asin L, Saez B, van Boven E, Klaver S, Swinkels DW, Aben KK, Graif T, Cashy J, Suarez BK, van Vierssen Trip O, Frigge ML, Ober C, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Palmer CN, Rotimi C, Chan JC, Pedersen O, Sigurdsson G, Benediktsson R, Jonsson E, Einarsson GV, Mayordomo JI, Catalona WJ, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K.
  • 310,520 SNPs in 1,501 prostate cancer cases and 11,290 controls
  • rs4430796 at 17q12 and rs1859962 at 17q24.3, 33Mb apart (rs4430796 in TCF2 also confers protection against type 2 diabetes).

Variants conferring risk of atrial fibrillation on chromosome 4q25.

  • Nature. 2007 Jul 1; [Epub ahead of print] Article
  • Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A, Jonasdottir A, Baker A, Thorleifsson G, Kristjansson K, Palsson A, Blondal T, Sulem P, Backman VM, Hardarson GA, Palsdottir E, Helgason A, Sigurjonsdottir R, Sverrisson JT, Kostulas K, Ng MC, Baum L, So WY, Wong KS, Chan JC, Furie KL, Greenberg SM, Sale M, Kelly P, Macrae CA, Smith EE, Rosand J, Hillert J, Ma RC, Ellinor PT, Thorgeirsson G, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K.
  • 316,515 SNPs
  • rs2200733 and rs10033464 on chromosome 4q25, adjacent to PITX2.

Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium

  • The American Journal of Human Genetics, volume 81 (2007), page 000 Article
  • Jukka T. Salonen, Pekka Uimari, Juha-Matti Aalto, Mia Pirskanen, Jari Kaikkonen, Boryana Todorova, Jelena Hyppönen, Veli-Pekka Korhonen, Janne Asikainen, Christopher Devine, Tomi-Pekka Tuomainen, Jan Luedemann, Matthias Nauck, Wolfgang Kerner, Richard H. Stephens, John P. New, William E. Ollier, J. Martin Gibson, Antony Payton, Michael A. Horan, Neil Pendleton, Walt Mahoney, David Meyre, Jerôme Delplanque, Philippe Froguel, Oren Luzzatto, Benjamin Yakir & Ariel Darvasi
  • >300,000 SNPs in 500 cases and 497 controls
  • rs7903146 (TCF7L2). SNPs below significance threshold on GWAS that were significant on replication: rs1535435 and rs9494266 (AHI1-LOC441171 region).

A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21

  • Nature Genetics published online 10 June 2007; doi:10.1038/ng2058 Article
  • David A van Heel, Lude Franke, Karen A Hunt, Rhian Gwilliam, Alexandra Zhernakova, Mike Inouye, Martin C Wapenaar, Martin C N M Barnardo, Graeme Bethel, Geoffrey K T Holmes, Con Feighery, Derek Jewell, Dermot Kelleher, Parveen Kumar, Simon Travis, Julian RF Walters, David S Sanders, Peter Howdle, Jill Swift, Raymond J Playford, William M McLaren, M Luisa Mearin, Chris J Mulder, Ross McManus, Ralph McGinnis, Lon R Cardon, Panos Deloukas  &  Cisca Wijmenga
  • 310,605 SNPs in 778 cases and 1,422 controls
  • HLA locus (most associated SNP rs2187668, HLA-DQA1). KIAA1109-TENR-IL2-IL21 LD block, (most associated SNP outside HLA region: rs13119723)

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

  • Nature 447, 661-678 (7 June 2007) Article
  • The Wellcome Trust Case Control Consortium, Management Committee, Data and Analysis Committee, UK Blood Services and University of Cambridge Controls, 1958 Birth Cohort Controls, Bipolar Disorder, Coronary Artery Disease, Crohn's Disease, Hypertension, Rheumatoid Arthritis, Type 1 Diabetes, Type 2 Diabetes, Tuberculosis, Ankylosing Spondylitis, Autoimmune Thyroid Disease, Breast Cancer, Multiple Sclerosis, Gambian Controls, DNA, Genotyping, Data QC and Informatics, Statistics, Primary Investigators
  • ~500,000 SNPs in 14,000 cases (divided across 7 diseases) and 3,000 controls
  • Consortium publication describing 24 independent associations (p < 5x10-7) across 7 diseases 

Genome-wide association study identifies novel breast cancer susceptibility loci

  • Nature advance online publication 27 May 2007 | doi:10.1038/nature05887 Article
  • Douglas F. Easton, Karen A. Pooley, Alison M. Dunning, Paul D. P. Pharoah, Deborah Thompson, Dennis G. Ballinger, Jeffery P. Struewing, Jonathan Morrison, Helen Field, Robert Luben, Nicholas Wareham, Shahana Ahmed, Catherine S. Healey, Richard Bowman, The SEARCH collaborators and , Kerstin B. Meyer, Christopher A. Haiman, Laurence K. Kolonel, Brian E. Henderson, Loic Le Marchand, Paul Brennan, Suleeporn Sangrajrang, Valerie Gaborieau, Fabrice Odefrey, Chen-Yang Shen, Pei-Ei Wu, Hui-Chun Wang, Diana Eccles, D. Gareth Evans, Julian Peto, Olivia Fletcher, Nichola Johnson, Sheila Seal, Michael R. Stratton, Nazneen Rahman, Georgia Chenevix-Trench, Stig E. Bojesen, Børge G. Nordestgaard, Christen K. Axelsson, Montserrat Garcia-Closas, Louise Brinton, Stephen Chanock, Jolanta Lissowska, Beata Peplonska, Heli Nevanlinna, Rainer Fagerholm, Hannaleena Eerola, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, David J. Hunter, Susan E. Hankinson, David G. Cox, Per Hall, Sara Wedren, Jianjun Liu, Yen-Ling Low, Natalia Bogdanova, Peter Schürmann, Thilo Dörk, Rob A. E. M. Tollenaar, Catharina E. Jacobi, Peter Devilee, Jan G. M. Klijn, Alice J. Sigurdson, Michele M. Doody, Bruce H. Alexander, Jinghui Zhang, Angela Cox, Ian W. Brock, Gordon MacPherson, Malcolm W. R. Reed, Fergus J. Couch, Ellen L. Goode, Janet E. Olson, Hanne Meijers-Heijboer, Ans van den Ouweland, André Uitterlinden, Fernando Rivadeneira, Roger L. Milne, Gloria Ribas, Anna Gonzalez-Neira, Javier Benitez, John L. Hopper, Margaret McCredie, Melissa Southey, Graham G. Giles, Chris Schroen, Christina Justenhoven, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, Amanda B. Spurdle, Jonathan Beesley, Xiaoqing ChenkConFab and AOCS Management Group and , Arto Mannermaa, Veli-Matti Kosma, Vesa Kataja, Jaana Hartikainen, Nicholas E. Day, David R. Cox  &  Bruce A. J. Ponder
  • 227,876 SNPs in 4,398 cases and 4,316 controls
  • rs2981582 (FGFR2), rs3803662 (TNRC9/LOC643714), rs889312 (MAP3K1), rs13281615 (8q) and rs3817198 (LSP1)

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

  • Nature Genetics Published online: 27 May 2007 | doi:10.1038/ng2075 Article
  • David J Hunter, Peter Kraft, Kevin B Jacobs, David G Cox, Meredith Yeager, Susan E Hankinson, Sholom Wacholder, Zhaoming Wang, Robert Welch, Amy Hutchinson, Junwen Wang, Kai Yu, Nilanjan Chatterjee, Nick Orr, Walter C Willett, Graham A Colditz, Regina G Ziegler, Christine D Berg, Saundra S Buys, Catherine A McCarty, Heather Spencer Feigelson, Eugenia E Calle, Michael J Thun, Richard B Hayes, Margaret Tucker, Daniela S Gerhard, Joseph F Fraumeni, Jr, Robert N Hoover, Gilles Thomas  &  Stephen J Chanock
  • 528,173 SNPs in 1,145 cases and 1,142 controls
  • rs11200014, rs2981579, rs1219648 and rs2420946, all in an intron of FGFR2

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer

  • Nature Genetics Published online: 27 May 2007 | doi:10.1038/ng2064 Article
  • Simon N Stacey, Andrei Manolescu, Patrick Sulem, Thorunn Rafnar, Julius Gudmundsson, Sigurjon A Gudjonsson, Gisli Masson, Margret Jakobsdottir, Steinunn Thorlacius, Agnar Helgason, Katja K Aben, Luc J Strobbe, Marjo T Albers-Akkers, Dorine W Swinkels, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Javier Godino, Maria Dolores Garcia-Prats, Eduardo Polo, Alejandro Tres, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Larus Gudmundsson, Kristleifur Kristjansson, Jon T Bergthorsson, Jelena Kostic, Michael L Frigge, Frank Geller, Daniel Gudbjartsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Thorvaldur Jonsson, Susanna von Holst, Barbro Werelius, Sara Margolin, Annika Lindblom, Jose I Mayordomo, Christopher A Haiman, Lambertus A Kiemeney, Oskar Th Johannsson, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong  &  Kari Stefansson
  • ~300,000 SNPs in 1,600 cases and 11,563 controls
  • rs13387042 (2q35) and rs3803662 (16q12, near TNRC9)

A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.

  • Mol Psychiatry. 2007 May 8; PubMed
  • Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, Schulze TG, Cichon S, Rietschel M, Nöthen MM, Georgi A, Schumacher J, Schwarz M, Abou Jamra R, Höfels S, Propping P, Satagopan J, Detera-Wadleigh SD, Hardy J, McMahon FJ
  • Over 550,000 SNPs in 461 cases and 563 controls (with replication in 772 cases and 876 controls)
  • DGKH, NXN, VGCNL1, DFNB31 and SORCS2 Results

A Common Allele on Chromosome 9 Associated with Coronary Heart Disease.

  • Science. 2007 May 3; PubMed
  • McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, Boerwinkle E, Hobbs HH, Cohen JC
  • ?
  • 58 kilobase interval on chromosome 9p21 (near the CDKN2A and CDKN2B genes)

A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction.

  • Science May 3 2007; Science DOI: 10.1126/science.1142842 Science Express
  • Anna Helgadottir, Gudmar Thorleifsson, Andrei Manolescu, Solveig Gretarsdottir, Thorarinn Blondal, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Adam Baker, Arnar Palsson, Gisli Masson, Daniel Gudbjartsson, Kristinn P. Magnusson, Karl Andersen, Allan I. Levey, Valgerdur M. Backman, Sigurborg Matthiasdottir, Thorbjorg Jonsdottir, Stefan Palsson, Helga Einarsdottir, Steinunn Gunnarsdottir, Arnaldur Gylfason, Viola Vaccarino, W. Craig Hooper, Muredach P. Reilly, Christopher B. Granger, Harland Austin, Daniel J. Rader, Svati H. Shah, Arshed A. Quyyumi, Jeffrey R. Gulcher, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Augustine Kong, and Kari Stefansson
  • 317,503 SNPs in 1607 cases and 6728 controls
  • 1 locus in 9p21 (near CDKN2A and CDKN2B)

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.

  • Lancet Neurol. 2007 May ; 6(5): 414-20 PubMed
  • Matarín M, Brown WM, Scholz S, Simón-Sánchez J, Fung HC, Hernandez D, Gibbs JR, De Vrieze FW, Crews C, Britton A, Langefeld CD, Brott TG, Brown RD, Worrall BB, Frankel M, Silliman S, Case LD, Singleton A, Hardy JA, Rich SS, Meschia JF
  • >400,000 SNPs in 278 cases and 275 controls
  • None

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

  • Nat Genet. 2007 May ; 39(5): 631-7  PubMed
  • Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A, Rafnar T, Bergthorsson JT, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Xu J, Blondal T, Kostic J, Sun J, Ghosh S, Stacey SN, Mouy M, Saemundsdottir J, Backman VM, Kristjansson K, Tres A, Partin AW, Albers-Akkers MT, Godino-Ivan Marcos J, Walsh PC, Swinkels DW, Navarrete S, Isaacs SD, Aben KK, Graif T, Cashy J, Ruiz-Echarri M, Wiley KE, Suarez BK, Witjes JA, Frigge M, Ober C, Jonsson E, Einarsson GV, Mayordomo JI, Kiemeney LA, Isaacs WB, Catalona WJ, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K
  • >300,000 SNPs in 1453 cases and 3064 controls
  • 2 loci in 8q24 

Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.

  • Nat Genet. 2007 May ; 39(5): 645-649 PubMed
  • Yeager M, Orr N, Hayes RB, Jacobs KB, Kraft P, Wacholder S, Minichiello MJ, Fearnhead P, Yu K, Chatterjee N, Wang Z, Welch R, Staats BJ, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Gelmann EP, Tucker M, Gerhard DS, Fraumeni JF, Hoover R, Hunter DJ, Chanock SJ, Thomas G
  • 550,000 SNPs in 1172 cases and 1157 controls
  • 2 loci in 8q24 

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.

  • Nat Genet. 2007 May ; 39(5): 596-604 PubMed
  • Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR
  • 317,503 SNPs in 988 cases and 1,007 controls
  • CARD15, IL23R, intergenic 10q21.1, ATG16L1 (cSNP), PHOX2B, NCF4 and predicted gene FAM92B (16q24.1)

Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels.

  • Science. 2007 Apr 26; PubMed
  • Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PI, Chen H, Roix JJ, Kathiresan S, Hirschhorn JN, Daly MJ, Hughes TE, Groop L, Altshuler D, Almgren P, Florez JC, Meyer J, Ardlie K, Bengtsson K, Isomaa B, Lettre G, Lindblad U, Lyon HN, Melander O, Newton-Cheh C, Nilsson P, Orho-Melander M, Råstam L, Speliotes EK, Taskinen MR, Tuomi T, Guiducci C, Berglund A, Carlson J, Gianniny L, Hackett R, Hall L, Holmkvist J, Laurila E, Sjögren M, Sterner M, Surti A, Svensson M, Svensson M, Tewhey R, Blumenstiel B, Parkin M, Defelice M, Barry R, Brodeur W, Camarata J, Chia N, Fava M, Gibbons J, Handsaker B, Healy C, Nguyen K, Gates C, Sougnez C, Gage D, Nizzari M, Gabriel SB, Chirn GW, Ma Q, Parikh H, Richardson D, Ricke D, Purcell S
  • 386,731 SNPs in 1,464 patients with T2D and 1,467 matched controls
  • CDKN2A/CDKN2B, IGF2BP2, CDKAL1, HHEX and SLC30A8 [T2D]. Glucokinase regulatory protein [serum triglycerides].

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

  • J Clin Psychiatry. 2007 Apr; 68(4): 613-8 PubMed
  • Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, Zismann VL, Beach TG, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Walker DG, Ravid R, Heward CB, Rogers J, Papassotiropoulos A, Reiman EM, Hardy J, Stephan DA
  • 502,627 SNPs in 1086 cases and controls
  • ApoE (14 kilobase pairs distal to the APOE epsilon variant)

A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants.

  • Science. 2007 Apr 26; PubMed
  • Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, Duren WL, Erdos MR, Stringham HM, Chines PS, Jackson AU, Prokunina-Olsson L, Ding CJ, Swift AJ, Narisu N, Hu T, Pruim R, Xiao R, Li XY, Conneely KN, Riebow NL, Sprau AG, Tong M, White PP, Hetrick KN, Barnhart MW, Bark CW, Goldstein JL, Watkins L, Xiang F, Saramies J, Buchanan TA, Watanabe RM, Valle TT, Kinnunen L, Abecasis GR, Pugh EW, Doheny KF, Bergman RN, Tuomilehto J, Collins FS, Boehnke M
  • >315,000 SNPs in 1,161 T2D cases and 1,174 controls
  • intergenic 11p12, IGF2BP2, CDKAL1, CDKN2A/CDKN2B, TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11

A variant in CDKAL1 influences insulin response and risk of type 2 diabetes.

  • Nat Genet. 2007 Apr 26; PubMed
  • Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, Walters GB, Styrkarsdottir U, Gretarsdottir S, Emilsson V, Ghosh S, Baker A, Snorradottir S, Bjarnason H, Ng MC, Hansen T, Bagger Y, Wilensky RL, Reilly MP, Adeyemo A, Chen Y, Zhou J, Gudnason V, Chen G, Huang H, Lashley K, Doumatey A, So WY, Ma RC, Andersen G, Borch-Johnsen K, Jorgensen T, van Vliet-Ostaptchouk JV, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Rotimi C, Gurney M, Chan JC, Pedersen O, Sigurdsson G, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K
  • 317,503 SNPs in 1,399 T2D cases and 599 + 4,676 controls
  • TCF7L2, CDKAL1 and SLC30A8

Novel Crohn Disease Locus Identified by Genome-Wide Association Maps to a Gene Desert on 5p13.1 and Modulates Expression of PTGER4.

  • PLoS Genet. 2007 Apr 20; 3(4): e58 PubMed
  • Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D, Vermeire S, Dewit O, de Vos M, Dixon A, Demarche B, Gut I, Heath S, Foglio M, Liang L, Laukens D, Mni M, Zelenika D, Gossum AV, Rutgeerts P, Belaiche J, Lathrop M, Georges M
  • 300,000 SNPs in 547 patients and 928 controls
  • IL23R, CARD15, intergenic 5p13.1

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity.

  • Science. 2007 Apr 12; PubMed
  • Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Davey-Smith G, , Hattersley AT, McCarthy MI
  • 490,032 SNPs in 1924 T2D patients and 2938 controls (WTCCC)
  • FTO

Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia

  • Molecular Psychiatry online publication 20 March 2007; doi: 10.1038/sj.mp.4001983
  • T Lencz, T V Morgan, M Athanasiou, B Dain, C R Reed, J M Kane, R Kucherlapati, and A K Malhotra
  • ~500,000 SNPs in 178 cases and 144 controls
  • rs4129148 (near CSF2RA and IL3RA)