CEPH Publications by year

Siddiq A, Couch FJ, Chen GK, Lindström S, Eccles D, Millikan RC, Michailidou K, Stram DO, Beckmann L, Rhie SK, Ambrosone CB, Aittomäki K, Amiano P, Apicella C; Australian Breast Cancer Tissue Bank Investigators, Baglietto L, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Brauch H, Brinton L, Bui QM, Buring JE, Buys SS, Campa D, Carpenter JE, Chasman DI, Chang-Claude J, Chen C, Clavel-Chapelon F, Cox A, Cross SS, Czene K, Deming SL, Diasio RB, Diver WR, Dunning AM, Durcan L, Ekici AB, Fasching PA; Familial Breast Cancer Study, Feigelson HS, Fejerman L, Figueroa JD, Fletcher O, Flesch-Janys D, Gaudet MM; GENICA Consortium, Gerty SM, Rodriguez-Gil JL, Giles GG, van Gils CH, Godwin AK, Graham N, Greco D, Hall P, Hankinson SE, Hartmann A, Hein R, Heinz J, Hoover RN, Hopper JL, Hu JJ, Huntsman S, Ingles SA, Irwanto A, Isaacs C, Jacobs KB, John EM, Justenhoven C, Kaaks R, Kolonel LN, Coetzee GA, Lathrop M, Le Marchand L, Lee AM, Lee IM, Lesnick T, Lichtner P, Liu J, Lund E, Makalic E, Martin NG, McLean CA, Meijers-Heijboer H, Meindl A, Miron P, Monroe KR, Montgomery GW, Müller-Myhsok B, Nickels S, Nyante SJ, Olswold C, Overvad K, Palli D, Park DJ, Palmer JR, Pathak H, Peto J, Pharoah P, Rahman N, Rivadeneira F, Schmidt DF, Schmutzler RK, Slager S, Southey MC, Stevens KN, Sinn HP, Press MF, Ross E, Riboli E, Ridker PM, Schumacher FR, Severi G, Dos Santos Silva I, Stone J, Sund M, Tapper WJ, Thun MJ, Travis RC, Turnbull C, Uitterlinden AG, Waisfisz Q, Wang X, Wang Z, Weaver J, Schulz-Wendtland R, Wilkens LR, Van Den Berg D, Zheng W, Ziegler RG, Ziv E, Nevanlinna H, Easton DF, Hunter DJ, Henderson BE, Chanock SJ, Garcia-Closas M, Kraft P, Haiman CA, Vachon CM. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet. 2012 Dec 15;21(24):5373-84. doi: 10.1093/hmg/dds381. Epub 2012 Sep 13.

Patillon B, Luisi P, Blanché H, Patin E, Cann HM, Génin E, Sabbagh A. Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans. PLoS One. 2012;7(12):e53049. doi: 10.1371/journal.pone.0053049. Epub 2012 Dec 28.

Jung C, Colombel JF, Lemann M, Beaugerie L, Allez M, Cosnes J, Vernier-Massouille G, Gornet JM, Gendre JP, Cezard JP, Ruemmele FM, Turck D, Merlin F, Zouali H, Libersa C, Dieudé P, Soufir N, Thomas G, Hugot JP. Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms. PLoS One. 2012;7(12):e52223. doi: 10.1371/journal.pone.0052223. Epub 2012 Dec 27.

Génin E, Sahbatou M, Gazal S, Babron MC, Perdry H, Leutenegger AL. Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed? Hum Hered. 2012;74(3-4):142-52. doi: 10.1159/000346790. Epub 2013 Apr 11.

Maubec E, Chaudru V, Mohamdi H, Blondel C, Margaritte-Jeannin P, Forget S, Corda E, Boitier F, Dalle S, Vabres P, Perrot JL, Lyonnet DS, Zattara H, Mansard S, Grange F, Leccia MT, Vincent-Fetita L, Martin L, Crickx B, Joly P, Thomas L; French Familial Melanoma Study Group, Bressac-de Paillerets B, Avril MF, Demenais F. Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. J Am Acad Dermatol. 2012 Dec;67(6):1257-64. doi: 10.1016/j.jaad.2012.05.014. Epub 2012 Jul 26

Pimenoff VN, Laval G, Comas D, Palo JU, Gut I, Cann H, Excoffier L, Sajantila A. Similarity in recombination rate and linkage disequilibrium at CYP2C and CYP2D cytochrome P450 gene regions among Europeans indicates signs of selection and no advantage of using tagSNPs in population isolates. Pharmacogenet Genomics. 2012 Dec;22(12):846-57. doi: 10.1097/FPC.0b013e32835a3a6d

Timofeeva MN, Hung RJ, Rafnar T, Christiani DC, Field JK, Bickeböller H, Risch A, McKay JD, Wang Y, Dai J, Gaborieau V, McLaughlin J, Brenner D, Narod SA, Caporaso NE, Albanes D, Thun M, Eisen T, Wichmann HE, Rosenberger A, Han Y, Chen W, Zhu D, Spitz M, Wu X, Pande M, Zhao Y, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njølstad I, Chen C, Goodman G, Lathrop M, Benhamou S, Vooder T, Välk K, Nelis M, Metspalu A, Raji O, Chen Y, Gosney J, Liloglou T, Muley T, Dienemann H, Thorleifsson G, Shen H, Stefansson K, Brennan P, Amos CI, Houlston R, Landi MT; Transdisciplinary Research in Cancer of the Lung (TRICL) Research Team. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. Hum Mol Genet. 2012 Nov 15;21(22):4980-95. doi: 10.1093/hmg/dds334. Epub 2012 Aug 16.

Rajaraman P, Melin BS, Wang Z, McKean-Cowdin R, Michaud DS, Wang SS, Bondy M, Houlston R, Jenkins RB, Wrensch M, Yeager M, Ahlbom A, Albanes D, Andersson U, Freeman LE, Buring JE, Butler MA, Braganza M, Carreon T, Feychting M, Fleming SJ, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Henriksson R, Hoffman-Bolton J, Inskip PD, Johansen C, Kitahara CM, Lathrop M, Liu C, Le Marchand L, Linet MS, Lonn S, Peters U, Purdue MP, Rothman N, Ruder AM, Sanson M, Sesso HD, Severi G, Shu XO, Simon M, Stampfer M, Stevens VL, Visvanathan K, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Decker P, Enciso-Mora V, Fridley B, Gao YT, Kosel M, Lachance DH, Lau C, Rice T, Swerdlow A, Wiemels JL, Wiencke JK, Shete S, Xiang YB, Xiao Y, Hoover RN, Fraumeni JF Jr, Chatterjee N, Hartge P, Chanock SJ. Genome-wide association study of glioma and meta-analysis. Hum Genet. 2012 Dec;131(12):1877-88. doi: 10.1007/s00439-012-1212-0. Epub 2012 Aug 11.

How Kit A, Nielsen HM, Tost J. DNA methylation based biomarkers: practical considerations and applications. Biochimie. 2012 Nov;94(11):2314-37. doi: 10.1016/j.biochi.2012.07.014. Epub 2012 Jul 27. Review.

Yamagata Y, Parietti V, Stockholm D, Corre G, Poinsignon C, Touleimat N, Delafoy D, Besse C, Tost J, Galy A, Paldi A. Lentiviral transduction of CD34(+) cells induces genome-wide epigenetic modifications. PLoS One. 2012;7(11):e48943. doi: 10.1371/journal.pone.0048943. Epub 2012 Nov 7.

Cipriani V, Leung HT, Plagnol V, Bunce C, Khan JC, Shahid H, Moore AT, Harding SP, Bishop PN, Hayward C, Campbell S, Armbrecht AM, Dhillon B, Deary IJ, Campbell H, Dunlop M, Dominiczak AF, Mann SS, Jenkins SA, Webster AR, Bird AC, Lathrop M, Zelenika D, Souied EH, Sahel JA, Léveillard T; French AMD Investigators, Cree AJ, Gibson J, Ennis S, Lotery AJ, Wright AF, Clayton DG, Yates JR. Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet. 2012 Sep 15;21(18):4138-50. doi: 10.1093/hmg/dds225. Epub 2012 Jun 13

Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

Babron MC, Guilloud-Bataille M, Sahbatou M, Demenais F, Génin E, Dizier MH. Comparative Power of Family-Based Association Strategies to Detect Disease-Causing Variants Under Two-Locus Models. Genet Epidemiol. 2012 Aug 9. doi: 10.1002/gepi.21672.

Stocks T, Angquist L, Banasik K, Harder MN, Taylor MA, Hager J, Arner P, Oppert JM, Martinez JA, Polak J, Rousseau F, Langin D, Rössner S, Holst C, MacDonald IA, Kamatani Y, Pfeiffer AF, Kunesova M, Saris WH, Hansen T, Pedersen O, Astrup A, Sørensen TI. TFAP2B influences the effect of dietary fat on weight loss under energy restriction. PLoS One. 2012;7(8):e43212. doi: 10.1371/journal.pone.0043212. Epub 2012 Aug 27.

Hager J, Kamatani Y, Cazier JB, Youhanna S, Ghassibe-Sabbagh M, Platt DE, Abchee AB, Romanos J, Khazen G, Othman R, Badro DA, Haber M, Salloum AK, Douaihy B, Shasha N, Kabbani S, Sbeite H, Chammas E, el Bayeh H, Rousseau F, Zelenika D, Gut I, Lathrop M, Farrall M, Gauguier D, Zalloua PA; FGENTCARD Consortium. Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. PLoS One. 2012;7(6):e38663. doi: 10.1371/journal.pone.0038663. Epub 2012 Jun 20

Dizier MH, Margaritte-Jeannin P, Madore AM, Esparza-Gordillo J, Moffatt M, Corda E, Monier F, Guilloud-Bataille M, Franke A, Weidinger S, Annesi-Maesano I, Just J, Pin I, Kauffmann F, Cookson W, Lee YA, Laprise C, Lathrop M, Bouzigon E, Demenais F. The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma. J Allergy Clin Immunol. 2012 Jun;129(6):1547-53.e3. doi: 10.1016/j.jaci.2012.04.010.

Touleimat N, Tost J. Complete pipeline for Infinium(®) Human Methylation 450K BeadChip data processing using subset quantile normalization for accurate DNA methylation estimation. Epigenomics. 2012 Jun;4(3):325-41. doi: 10.2217/epi.12.21

Johansson M, Roberts A, Chen D, Li Y, Delahaye-Sourdeix M, Aswani N, Greenwood MA, Benhamou S, Lagiou P, Holcátová I, Richiardi L, Kjaerheim K, Agudo A, Castellsagué X, Macfarlane TV, Barzan L, Canova C, Thakker NS, Conway DI, Znaor A, Healy CM, Ahrens W, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Fabiánová E, Mates IN, Bencko V, Foretova L, Janout V, Curado MP, Koifman S, Menezes A, Wünsch-Filho V, Eluf-Neto J, Boffetta P, Franceschi S, Herrero R, Fernandez Garrote L, Talamini R, Boccia S, Galan P, Vatten L, Thomson P, Zelenika D, Lathrop M, Byrnes G, Cunningham H, Brennan P, Wakefield J, McKay JD. Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method. PLoS One. 2012;7(5):e36888. doi: 10.1371/journal.pone.0036888. Epub 2012 May 25.

Osman W, Okada Y, Kamatani Y, Kubo M, Matsuda K, Nakamura Y. Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. PLoS One. 2012;7(4):e32683. doi: 10.1371/journal.pone.0032683. Epub 2012 Apr 27

Imboden M, Bouzigon E, Curjuric I, Ramasamy A, Kumar A, Hancock DB, Wilk JB, Vonk JM, Thun GA, Siroux V, Nadif R, Monier F, Gonzalez JR, Wjst M, Heinrich J, Loehr LR, Franceschini N, North KE, Altmüller J, Koppelman GH, Guerra S, Kronenberg F, Lathrop M, Moffatt MF, O'Connor GT, Strachan DP, Postma DS, London SJ, Schindler C, Kogevinas M, Kauffmann F, Jarvis DL, Demenais F, Probst-Hensch NM. Genome-wide association study of lung function decline in adults with and without asthma. J Allergy Clin Immunol. 2012 May;129(5):1218-28. doi: 10.1016/j.jaci.2012.01.074. Epub 2012 Mar 16.

Kazma R, Babron MC, Gaborieau V, Génin E, Brennan P, Hung RJ, McLaughlin JR, Krokan HE, Elvestad MB, Skorpen F, Anderssen E, Vooder T, Välk K, Metspalu A, Field JK, Lathrop M, Sarasin A, Benhamou S; ILCCO consortium. Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. Carcinogenesis. 2012 May;33(5):1059-64. doi: 10.1093/carcin/bgs116. Epub 2012 Mar 1.

Ghassibe-Sabbagh M, Platt DE, Youhanna S, Abchee AB, Stewart K, Badro DA, Haber M, Salloum AK, Douaihy B, el Bayeh H, Othman R, Shasha N, Kibbani S, Chammas E, Milane A, Nemr R, Kamatani Y, Hager J, Cazier JB, Gauguier D, Zalloua PA; FGENTCARD Consortium. Genetic and environmental influences on total plasma homocysteine and its role in coronary artery disease risk. Atherosclerosis. 2012 May;222(1):180-6. doi: 10.1016/j.atherosclerosis.2012.02.035. Epub 2012 Feb 28.

Okada Y, Kamatani Y. Common genetic factors for hematological traits in humans. J Hum Genet. 2012 Mar;57(3):161-9. doi: 10.1038/jhg.2012.2. Epub 2012 Jan 26. Review.

Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol. 2012 Feb;41(1):250-62. doi: 10.1093/ije/dyr204. Epub 2012 Jan 13.

Huang J, Renault V, Sengenès J, Touleimat N, Michel S, Lathrop M, Tost J. MeQA: a pipeline for MeDIP-seq data quality assessment and analysis. Bioinformatics. 2012 Feb 15;28(4):587-8. doi: 10.1093/bioinformatics/btr699. Epub 2011 Dec 22.

Urayama KY, Jarrett RF, Hjalgrim H, Diepstra A, Kamatani Y, Chabrier A, Gaborieau V, Boland A, Nieters A, Becker N, Foretova L, Benavente Y, Maynadié M, Staines A, Shield L, Lake A, Montgomery D, Taylor M, Smedby KE, Amini RM, Adami HO, Glimelius B, Feenstra B, Nolte IM, Visser L, van Imhoff GW, Lightfoot T, Cocco P, Kiemeney L, Vermeulen SH, Holcatova I, Vatten L, Macfarlane GJ, Thomson P, Conway DI, Benhamou S, Agudo A, Healy CM, Overvad K, Tjønneland A, Melin B, Canzian F, Khaw KT, Travis RC, Peeters PH, González CA, Quirós JR, Sánchez MJ, Huerta JM, Ardanaz E, Dorronsoro M, Clavel-Chapelon F, Bueno-de-Mesquita HB, Riboli E, Roman E, Boffetta P, de Sanjosé S, Zelenika D, Melbye M, van den Berg A, Lathrop M, Brennan P, McKay JD. Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups. J Natl Cancer Inst. 2012 Feb 8;104(3):240-53. doi: 10.1093/jnci/djr516. Epub 2012 Jan 27.

Durkin K, Coppieters W, Drögemüller C, Ahariz N, Cambisano N, Druet T, Fasquelle C, Haile A, Horin P, Huang L, Kamatani Y, Karim L, Lathrop M, Moser S, Oldenbroek K, Rieder S, Sartelet A, Sölkner J, Stålhammar H, Zelenika D, Zhang Z, Leeb T, Georges M, Charlier C. Serial translocation by means of circular intermediates underlies colour sidedness in cattle. Nature. 2012 Feb 1;482(7383):81-4. doi: 10.1038/nature10757.

Meziani R, Yamada R, Takahashi M, Ohigashi K, Morinobu A, Terao C, Hiratani H, Ohmura K, Yamaguchi M, Nomura T, Vasilescu A, Kokubo M, Renault V, Hirosawa K, Ratanajaraya C, Heath S, Mimori T, Sakaguchi S, Lathrop M, Melchers I, Kumagai S, Matsuda F. A trans-ethnic genetic study of rheumatoid arthritis identified FCGR2A as a candidate common risk factor in Japanese and European populations. Mod Rheumatol. 2012 Feb;22(1):52-8. doi: 10.1007/s10165-011-0467-y. Epub 2011 May 24

Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F; Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomäki K, Blomqvist C, Meindl A, Schmutzler RK, Müller-Myhsok B, Lichtner P, Chang-Claude J, Hein R, Nickels S, Flesch-Janys D, Tsimiklis H, Makalic E, Schmidt D, Bui M, Hopper JL, Apicella C, Park DJ, Southey M, Hunter DJ, Chanock SJ, Broeks A, Verhoef S, Hogervorst FB, Fasching PA, Lux MP, Beckmann MW, Ekici AB, Sawyer E, Tomlinson I, Kerin M, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Cordina-Duverger E, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Alonso MR, González-Neira A, Benítez J, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Müller H, Arndt V, Stegmaier C; Familial Breast Cancer Study (FBCS), Justenhoven C, Brauch H, Brüning T; Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network, Wang-Gohrke S, Eilber U, Dörk T, Schürmann P, Bremer M, Hillemanns P, Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Manoukian S, Bonanni B, Fortuzzi S, Peterlongo P, Couch FJ, Wang X, Stevens K, Lee A, Giles GG, Baglietto L, Severi G, McLean C, Alnaes GG, Kristensen V, Børrensen-Dale AL, John EM, Miron A, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Glendon G, Mulligan AM, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Figueroa JD, Garcia-Closas M, Brinton L, Lissowska J, Hooning MJ, Hollestelle A, Oldenburg RA, van den Ouweland AM, Cox A, Reed MW, Shah M, Jakubowska A, Lubiński J, Jaworska K, Durda K, Jones M, Schoemaker M, Ashworth A, Swerdlow A, Beesley J, Chen X; kConFab Investigators; Australian Ovarian Cancer Study Group, Muir KR, Lophatananon A, Rattanamongkongul S, Chaiwerawattana A, Kang D, Yoo KY, Noh DY, Shen CY, Yu JC, Wu PE, Hsiung CN, Perkins A, Swann R, Velentzis L, Eccles DM, Tapper WJ, Gerty SM, Graham NJ, Ponder BA, Chenevix-Trench G, Pharoah PD, Lathrop M, Dunning AM, Rahman N, Peto J, Easton DF. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet. 2012 Jan 22;44(3):312-8. doi: 10.1038/ng.1049.

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056.