Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size

Journal of Medical Genetics

Volumn 50, Issue 10, 2013, Pages 666-673

  Li, Jingmei ^a   Foo, Jia Nee ^a   Schoof, Nils ^b   Varghese, Jajini S ^c,d   Fernandez Navarro, Pablo ^e,f   Gierach, Gretchen L ^g   Quek, Swee Tian ^h   Hartman, Mikael ^h,i   Nord, Silje ^j   Kristensen, Vessela N ^j,k   Pollán, Marina ^e,f   Figueroa, Jonine D ^g   Thompson, Deborah J ^c   Li, Yi ^a   Khor, Chiea Chuen ^a   Humphreys, Keith ^b   Liu, Jianjun ^a,h,i   Czene, Kamila ^b   Hall, Per ^b  

^a GENOME INSTITUTE OF SINGAPORE   (Singapore)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d ROYAL FREE HOSPITAL   (United Kingdom)

^e CARLOS III INSTITUTE OF HEALTH   (Spain)

^f CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^g NATIONAL CANCER INSTITUTE   (United States)

^h NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

ⁱ NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^j OSLO UNIVERSITY HOSPITAL   (Norway)

^k AKERSHUS UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; ESTROGEN RECEPTOR ALPHA; MKL1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BREAST CANCER; BREAST SIZE; CONTROLLED STUDY; DEMOGRAPHY; FEMALE; FILM; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENOTYPE; HORMONE SENSITIVITY; HUMAN; LARGE SCALE PRODUCTION; MAJOR CLINICAL STUDY; MAMMOGRAPHY; ORGAN SIZE; OVARY CANCER; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROMOTER REGION; PROSTATE CANCER; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM;

CANCER: BREAST; COMPLEX TRAITS; EPIDEMIOLOGY; GENETIC EPIDEMIOLOGY; GENOME-WIDE;

CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MAMMARY GLANDS, HUMAN; MAMMOGRAPHY; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI;

EID: 84890150156     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101708     Document Type: Article

References (36)

1. Buggio L, Vercellini P, Somigliana E, Vigano P, Frattaruolo MP, Fedele L. "You are so beautiful"*: behind women's attractiveness towards the biology of reproduction: a narrative review. Gynecol Endocrinol 2012;28:753-7.
2. Findikcioglu K, Findikcioglu F, Ozmen S, Guclu T. The impact of breast size on the vertebral column: a radiologic study. Aesthetic Plast Surg 2007;31:23-7.
3. Ray JG, Mohllajee AP, van Dam RM, Michels KB. Breast size and risk of type 2 diabetes mellitus. CMAJ 2008;178:289-95.
4. Wade TD, Zhu G, Martin NG. Body mass index and breast size in women: same or different genes? Twin Res Hum Genet 2010;13:450-4.
5. Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY. Genetic variants associated with breast size also influence breast cancer risk. BMC Med Genet 2012:13:53.
6. Oo M, Myint Z, Sakakibara T, Kasai Y. Relationship between brassiere cup size and shoulder-neck pain in women. Open Orthop J 2012;6:140-2.
7. Pechter EA. A new method for determining bra size and predicting postaugmentation breast size. Plast Reconstr Surg 1998;102:1259-65.
8. Sulem P, Gudbjartsson DF, Geller F, Prokopenko I, Feenstra B, Aben KK, Franke B, den Heijer M, Kovacs P, Stumvoll M, Magi R, Yanek LR, Becker LC, Boyd HA, Stacey SN, Walters GB, Jonasdottir A, Thorleifsson G, Holm H, Gudjonsson SA, Rafnar T, Bjornsdottir G, Becker DM, Melbye M, Kong A, Tonjes A, Thorgeirsson T, Thorsteinsdottir U, Kiemeney LA, Stefansson K. Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption. Hum Mol Genet 2011;20:2071-7.
9. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N; Breast and Ovarian Cancer Susceptibility C, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, Hereditary Breast and Ovarian Cancer Research Group, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM; kConFab Investigators; Australian Ovarian Cancer Study Group, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T; GENICA Network, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J, Easton DF. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013;45:353-61.
10. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75.
11. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006;38:904-9.
12. Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006;2:e190.
13. Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'Alfonso S, Blackburn H, Boneschi F Martinelli, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'Hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppa V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher M, Roesner S, Rubio JP, Ruckert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad C, Sorensen PS, Sondergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvanen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011;476:214-19.
14. Peloso GM, Lunetta KL. Choice of population structure informative principal components for adjustment in a case-control study. BMC Genet 2011;12:64.
15. Robinson L, Jewell N. Some surprising results about covariate adjustment in logistic regression models. Int Stat Rev 1991;59:227-40.
16. Zhang W, Dolan ME. Impact of the 1000 genomes project on the next wave of pharmacogenomic discovery. Pharmacogenomics 2010;11:249-56.
17. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009;5:e1000529.
18. Delaneau O, Marchini J, Zagury JF. A linear complexity phasing method for thousands of genomes. Nat Methods 2012;9:179-81.
19. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012;44:955-9.
20. Lindstrom S, Vachon CM, Li J, Varghese J, Thompson D, Warren R, Brown J, Leyland J, Audley T, Wareham NJ, Loos RJ, Paterson AD, Rommens J, Waggott D, Martin LJ, Scott CG, Pankratz VS, Hankinson SE, Hazra A, Hunter DJ, Hopper JL, Southey MC, Chanock SJ, Idos S Silva, Liu J, Eriksson L, Couch FJ, Stone J, Apicella C, Czene K, Kraft P, Hall P, Easton DF, Boyd NF, Tamimi RM. Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 2011;43:185-7.
21. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 2010;26:2190-1.
22. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF, Sklar P. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009;460:748-52.
23. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet 2011;88:76-82.
24. Cornes BK, Khor CC, Nongpiur ME, Xu L, Tay WT, Zheng Y, Lavanya R, Li Y, Wu R, Sim X, Wang YX, Chen P, Teo YY, Chia KS, Seielstad M, Liu J, Hibberd ML, Cheng CY, Saw SM, Tai ES, Jonas JB, Vithana EN, Wong TY, Aung T. Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Hum Mol Genet 2012;21:437-45.
25. Ward LD, Kellis M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res 2012;40:D930-4.
26. Murtagh J, Martin F, Gronostajski RM. The Nuclear Factor I (NFI) gene family in mammary gland development and function. J Mammary Gland Biol Neoplasia 2003;8:241-54.
27. Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS. Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells. J Biol Chem 2004;279:17578-86.
28. Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 2001;28:220-1.
29. Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H. Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death. J Biol Chem 2002;277:28853-60.
30. Huet G, Merot Y, Percevault F, Tiffoche C, Arnal JF, Boujrad N, Pakdel F, Metivier R, Flouriot G. Repression of the estrogen receptor-alpha transcriptional activity by the Rho/megakaryoblastic leukemia 1 signaling pathway. J Biol Chem 2009;284:33729-39.
31. Forbes GB, Frederick DA. The UCLA Body Project II: breast and body dissatisfaction among African, Asian, European, and Hispanic American college women. Sex Roles 2008;12:449-57.
32. Tavani A, Pregnolato A, La Vecchia C, Negri E, Favero A, Franceschi S. Breast size and breast cancer risk. Eur J Cancer Prev 1996;5:337-42.
33. Egan KM, Newcomb PA, Titus-Ernstoff L, Trentham-Dietz A, Baron JA, Willett WC, Stampfer MJ, Trichopoulos D. The relation of breast size to breast cancer risk in postmenopausal women (United States). Cancer Causes Control 1999;10:115-18.
34. Kusano AS, Trichopoulos D, Terry KL, Chen WY, Willett WC, Michels KB. A prospective study of breast size and premenopausal breast cancer incidence. Int J Cancer 2006;118:2031-4.
35. Thurfjell E, Hsieh CC, Lipworth L, Ekbom A, Adami HO, Trichopoulos D. Breast size and mammographic pattern in relation to breast cancer risk. Eur J Cancer Prev 1996;5:37-41.
36. Assi V, Warwick J, Cuzick J, Duffy SW. Clinical and epidemiological issues in mammographic density. Nat Rev Clin Oncol 2012;9:33-40