BET1L and TNRC6B associate with uterine fibroid risk among European Americans

详细信息    查看全文

• 作者：Todd L. Edwards (1) (2) (3) (4)
  Kara A. Michels (1) (2)
  Katherine E. Hartmann (1) (2) (5)
  Digna R. Velez Edwards (1) (2) (3) (5)
  
• 刊名：Human Genetics
• 出版年：2013
• 出版时间：August 2013
• 年：2013
• 卷：132
• 期：8
• 页码：943-953
• 全文大小：241KB
• 参考文献：1. Baird DD, Dunson DB (2003) Why is parity protective for uterine fibroids? Epidemiology 14:247-50
  2. Baird DD, Dunson DB, Hill MC, Cousins D, Schectman JM (2003) High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence. Am J Obstet Gynecol 188:100-07 CrossRef
  3. Baird DD, Dunson DB, Hill MC, Cousins D, Schectman JM (2007) Association of physical activity with development of uterine leiomyoma. Am J Epidemiol 165:157-63 CrossRef
  4. Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van AE, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (2012) Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nat Genet 44:685-89 CrossRef
  5. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-65 CrossRef
  6. Bonatz G, Frahm SO, Andreas S, Heidorn K, Jonat W, Parwaresch R (1998) Telomere shortening in uterine leiomyomas. Am J Obstet Gynecol 179:591-96 CrossRef
  7. Borengasser SJ, Lau F, Kang P, Blackburn ML, Ronis MJ, Badger TM, Shankar K (2011) Maternal obesity during gestation impairs fatty acid oxidation and mitochondrial SIRT3 expression in rat offspring at weaning. PLoS ONE 6:e24068 CrossRef
  8. Burnett-Hartman AN, Fitzpatrick AL, Kronmal RA, Psaty BM, Jenny NS, Bis JC, Tracy RP, Kimura M, Aviv A (2012) Telomere-associated polymorphisms correlate with cardiovascular disease mortality in Caucasian women: the Cardiovascular Health Study. Mech Ageing Dev 133:275-81 CrossRef
  9. Capel F, Viguerie N, Vega N, Dejean S, Arner P, Klimcakova E, Martinez JA, Saris WH, Holst C, Taylor M, Oppert JM, Sorensen TI, Clement K, Vidal H, Langin D (2008) Contribution of energy restriction and macronutrient composition to changes in adipose tissue gene expression during dietary weight-loss programs in obese women. J Clin Endocrinol Metab 93:4315-322 CrossRef
  10. Cha PC, Takahashi A, Hosono N, Low SK, Kamatani N, Kubo M, Nakamura Y (2011) A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. Nat Genet 43:447-50 CrossRef
  11. Choudhury M, Jonscher KR, Friedman JE (2011) Reduced mitochondrial function in obesity-associated fatty liver: SIRT3 takes on the fat. Aging (Albany NY) 3:175-78
  12. Cramer SF, Patel A (1990) The frequency of uterine leiomyomas. Am J Clin Pathol 94:435-38
  13. Dragomir AD, Schroeder JC, Connolly A, Kupper LL, Hill MC, Olshan AF, Baird DD (2010) Potential risk factors associated with subtypes of uterine leiomyomata. Reprod Sci 17:1029-035 CrossRef
  14. Eggert SL, Huyck KL, Somasundaram P, Kavalla R, Stewart EA, Lu AT, Painter JN, Montgomery GW, Medland SE, Nyholt DR, Treloar SA, Zondervan KT, Heath AC, Madden PA, Rose L, Buring JE, Ridker PM, Chasman DI, Martin NG, Cantor RM, Morton CC (2012) Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata. Am J Hum Genet 91:621-28 CrossRef
  15. El-Gharib MN, Elsobky ES (2010) Cytogenetic aberrations and the development of uterine leiomyomata. J Obstet Gynaecol Res 36:101-07 CrossRef
  16. Estrada K, Krawczak M, Schreiber S, van Duijn K, Stolk L, van Meurs JB, Liu F, Penninx BW, Smit JH, Vogelzangs N, Hottenga JJ, Willemsen G, de Geus EJ, Lorentzon M, von Eller-Eberstein H, Lips P, Schoor N, Pop V, de KJ, Hofman A, Aulchenko YS, Oostra BA, Ohlsson C, Boomsma DI, Uitterlinden AG, van Duijn CM, Rivadeneira F, Kayser M (2009) A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum Mol Genet 18:3516-524
  17. Faerstein E, Szklo M, Rosenshein NB (2001) Risk factors for uterine leiomyoma: a practice-based case–control study. II. Atherogenic risk factors and potential sources of uterine irritation. Am J Epidemiol 153:11-9 CrossRef
  18. Flake GP, Andersen J, Dixon D (2003) Etiology and pathogenesis of uterine leiomyomas: a review. Environ Health Perspect 111:1037-054 CrossRef
  19. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-229 CrossRef
  20. Giralt A, Villarroya F (2012) SIRT3, a pivotal actor in mitochondrial functions: metabolism, cell death and aging. Biochem J 444:1-0 CrossRef
  21. Green MF, Hirschey MD (2012) SIRT3 weighs heavily in the metabolic balance: a new role for SIRT3 in metabolic syndrome. J Gerontol A Biol Sci Med Sci 68(2):105-07 CrossRef
  22. Guarente L (2011) Sirtuins, aging, and metabolism. Cold Spring Harb Symp Quant Biol 76:81-0 CrossRef
  23. Guo Y, Shen H, Xiao P, Xiong DH, Yang TL, Guo YF, Long JR, Recker RR, Deng HW (2006) Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. J Clin Endocrinol Metab 91:1009-014 CrossRef
  24. Hartmann KE, Birnbaum H, Ben-Hamadi R, Wu EQ, Farrell MH, Spalding J, Stang P (2006) Annual costs associated with diagnosis of uterine leiomyomata. Obstet Gynecol 108:930-37 CrossRef
  25. Je EM, Kim MR, Min KO, Yoo NJ, Lee SH (2012) Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int J Cancer 131:E1044–E1047 CrossRef
  26. Kurbanova MK, Koroleva AG, Sergeev AS (1989) Genetic-epidemiologic analysis of uterine myoma: assessment of repeated risk. Genetika 25:1896-898
  27. Laughlin SK, Baird DD, Savitz DA, Herring AH, Hartmann KE (2009) Prevalence of uterine leiomyomas in the first trimester of pregnancy: an ultrasound-screening study. Obstet Gynecol 113:630-35
  28. Laughlin SK, Herring AH, Savitz DA, Olshan AF, Fielding JR, Hartmann KE, Baird DD (2010a) Pregnancy-related fibroid reduction. Fertil Steril 94:2421-423 CrossRef
  29. Laughlin SK, Schroeder JC, Baird DD (2010b) New directions in the epidemiology of uterine fibroids. Semin Reprod Med 28:204-17 CrossRef
  30. Laughlin SK, Hartmann KE, Baird DD (2011) Postpartum factors and natural fibroid regression. Am J Obstet Gynecol 204:496 CrossRef
  31. Liu H, Wang B, Han C (2011) Meta-analysis of genome-wide and replication association studies on prostate cancer. Prostate 71:209-24 CrossRef
  32. Low SK, Takahashi A, Cha PC, Zembutsu H, Kamatani N, Kubo M, Nakamura Y (2012) Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA. Hum Mol Genet 21:2102-110 CrossRef
  33. Lumbiganon P, Rugpao S, Phandhu-fung S, Laopaiboon M, Vudhikamraksa N, Werawatakul Y (1996) Protective effect of depot-medroxyprogesterone acetate on surgically treated uterine leiomyomas: a multicentre case–control study. Br J Obstet Gynaecol 103:909-14 CrossRef
  34. Luo X, Chegini N (2008) The expression and potential regulatory function of microRNAs in the pathogenesis of leiomyoma. Semin Reprod Med 26:500-14 CrossRef
  35. Luoto R, Kaprio J, Rutanen EM, Taipale P, Perola M, Koskenvuo M (2000) Heritability and risk factors of uterine fibroids—the Finnish Twin Cohort study. Maturitas 37:15-6 CrossRef
  36. Makinen N, Heinonen HR, Moore S, Tomlinson IP, van der Spuy ZM, Aaltonen LA (2011) MED12 exon 2 mutations are common in uterine leiomyomas from South African patients. Oncotarget 2:966-69
  37. Malik M, Norian J, McCarthy-Keith D, Britten J, Catherino WH (2010) Why leiomyomas are called fibroids: the central role of extracellular matrix in symptomatic women. Semin Reprod Med 28:169-79 CrossRef
  38. Markowski DN, Bartnitzke S, Loning T, Drieschner N, Helmke BM, Bullerdiek J (2012) MED12 mutations in uterine fibroids-their relationship to cytogenetic subgroups. Int J Cancer 131:1528-536 CrossRef
  39. Marsh EE, Lin Z, Yin P, Milad M, Chakravarti D, Bulun SE (2008) Differential expression of microRNA species in human uterine leiomyoma versus normal myometrium. Fertil Steril 89:1771-776 CrossRef
  40. Marshall LM, Spiegelman D, Barbieri RL, Goldman MB, Manson JE, Colditz GA, Willett WC, Hunter DJ (1997) Variation in the incidence of uterine leiomyoma among premenopausal women by age and race. Obstet Gynecol 90:967-73 CrossRef
  41. Marshall LM, Spiegelman D, Goldman MB, Manson JE, Colditz GA, Barbieri RL, Stampfer MJ, Hunter DJ (1998) A prospective study of reproductive factors and oral contraceptive use in relation to the risk of uterine leiomyomata. Fertil Steril 70:432-39 CrossRef
  42. Meister G, Landthaler M, Peters L, Chen PY, Urlaub H, Luhrmann R, Tuschl T (2005) Identification of novel argonaute-associated proteins. Curr Biol 15:2149-155 CrossRef
  43. Mestre-Alfaro A, Ferrer MD, Banquells M, Riera J, Drobnic F, Sureda A, Tur JA, Pons A (2012) Body temperature modulates the antioxidant and acute immune responses to exercise. Free Radic Res 46:799-08 CrossRef
  44. Moore AB, Flake GP, Swartz CD, Heartwell G, Cousins D, Haseman JK, Kissling GE, Sidawy MK, Dixon D (2008) Association of race, age and body mass index with gross pathology of uterine fibroids. J Reprod Med 53:90-6
  45. Myers SL, Baird DD, Olshan AF, Herring AH, Schroeder JC, Nylander-French LA, Hartmann KE (2012) Self-report versus ultrasound measurement of uterine fibroid status. J Womens Health (Larchmt) 21:285-93 CrossRef
  46. Ojeda VJ (1979) The pathology of hysterectomy specimens. N Z Med J 89:169-71
  47. Owerbach D, Johansen K, Billesbolle P, Poulsen S, Schroll M, Nerup J (1982) Possible association between DNA sequences flanking the insulin gene and atherosclerosis. Lancet 2:1291-293 CrossRef
  48. Parazzini F, Negri E, La VC, Chatenoud L, Ricci E, Guarnerio P (1996) Reproductive factors and risk of uterine fibroids. Epidemiology 7:440-42 CrossRef
  49. Promislow JH, Makarushka CM, Gorman JR, Howards PP, Savitz DA, Hartmann KE (2004) Recruitment for a community-based study of early pregnancy: the Right From The Start study. Paediatr Perinat Epidemiol 18:143-52 CrossRef
  50. Pulley J, Clayton E, Bernard GR, Roden DM, Masys DR (2010) Principles of human subjects protections applied in an opt-out, de-identified biobank. Clin Transl Sci 3:42-8 CrossRef
  51. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-75 CrossRef
  52. Rotwein P, Chyn R, Chirgwin J, Cordell B, Goodman HM, Permut MA (1981) Polymorphism in the 5-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science 213:1117-120 CrossRef
  53. Samadi AR, Lee NC, Flanders WD, Boring JR III, Parris EB (1996) Risk factors for self-reported uterine fibroids: a case–control study. Am J Public Health 86:858-62 CrossRef
  54. Snieder H, MacGregor AJ, Spector TD (1998) Genes control the cessation of a woman’s reproductive life: a twin study of hysterectomy and age at menopause. J Clin Endocrinol Metab 83:1875-880 CrossRef
  55. Sozen I, Arici A (2002) Interactions of cytokines, growth factors, and the extracellular matrix in the cellular biology of uterine leiomyomata. Fertil Steril 78:1-2 CrossRef
  56. Sun J, Zheng SL, Wiklund F, Isaacs SD, Li G, Wiley KE, Kim ST, Zhu Y, Zhang Z, Hsu FC, Turner AR, Stattin P, Liu W, Kim JW, Duggan D, Carpten J, Isaacs W, Gronberg H, Xu J, Chang BL (2009) Sequence variants at 22q13 are associated with prostate cancer risk. Cancer Res 69:10-5 CrossRef
  57. Takeda T, Sakata M, Isobe A, Miyake A, Nishimoto F, Ota Y, Kamiura S, Kimura T (2008) Relationship between metabolic syndrome and uterine leiomyomas: a case–control study. Gynecol Obstet Invest 66:14-7 CrossRef
  58. Tao S, Wang Z, Feng J, Hsu FC, Jin G, Kim ST, Zhang Z, Gronberg H, Zheng LS, Isaacs WB, Xu J, Sun J (2012) A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Carcinogenesis 33:598-03 CrossRef
  59. Terry KL, De Vivo I, Hankinson SE, Spiegelman D, Wise LA, Missmer SA (2007) Anthropometric characteristics and risk of uterine leiomyoma. Epidemiology 18:758-63 CrossRef
  60. Thorisson GA, Smith AV, Krishnan L, Stein LD (2005) The International HapMap Project Web site. Genome Res 15:1592-593 CrossRef
  61. Treloar SA, Martin NG, Dennerstein L, Raphael B, Heath AC (1992) Pathways to hysterectomy: insights from longitudinal twin research. Am J Obstet Gynecol 167:82-8 CrossRef
  62. Valdecantos MP, Perez-Matute P, Gonzalez-Muniesa P, Prieto-Hontoria PL, Moreno-Aliaga MJ, Martinez JA (2012) Lipoic acid improves mitochondrial function in nonalcoholic steatosis through the stimulation of sirtuin 1 and sirtuin 3. Obesity (Silver Spring) 20(10):1974-983 CrossRef
  63. Vasan RS, Larson MG, Aragam J, Wang TJ, Mitchell GF, Kathiresan S, Newton-Cheh C, Vita JA, Keyes MJ, O’Donnell CJ, Levy D, Benjamin EJ (2007) Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. BMC Med Genet 8(Suppl 1):S2 CrossRef
  64. Vollenhoven B (1998) Introduction: the epidemiology of uterine leiomyomas. Baillieres Clin Obstet Gynaecol 12:169-76 CrossRef
  65. Willer CJ, Li Y, Abecasis GR (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26:2190-191 CrossRef
  66. Wise LA, Palmer JR, Harlow BL, Spiegelman D, Stewart EA, Adams-Campbell LL, Rosenberg L (2004) Reproductive factors, hormonal contraception, and risk of uterine leiomyomata in African-American women: a prospective study. Am J Epidemiol 159:113-23 CrossRef
  67. Wise LA, Palmer JR, Spiegelman D, Harlow BL, Stewart EA, Adams-Campbell LL, Rosenberg L (2005) Influence of body size and body fat distribution on risk of uterine leiomyomata in US black women. Epidemiology 16:346-54 CrossRef
  68. Wise LA, Ruiz-Narvaez EA, Palmer JR, Cozier YC, Tandon A, Patterson N, Radin RG, Rosenberg L, Reich D (2012) African ancestry and genetic risk for uterine leiomyomata. Am J Epidemiol 176:1159-168 CrossRef
  69. Xu Z, Kaplan NL, Taylor JA (2007) TAGster: efficient selection of LD tag SNPs in single or multiple populations. Bioinformatics 23:3254-255 CrossRef
  
• 作者单位：Todd L. Edwards (1) (2) (3) (4)
  Kara A. Michels (1) (2)
  Katherine E. Hartmann (1) (2) (5)
  Digna R. Velez Edwards (1) (2) (3) (5)
  
  1. Vanderbilt Epidemiology Center, Vanderbilt University, 2525 West End Ave., Suite 600 6th Floor, Nashville, TN, 37203, USA
  2. Institute for Medicine and Public Health, Vanderbilt University, Nashville, TN, USA
  3. Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA
  4. Division of Epidemiology, Department of Medicine, Vanderbilt University, Nashville, TN, USA
  5. Department of Obstetrics and Gynecology, Vanderbilt University, Nashville, USA
  

文摘

Uterine fibroid (UFs) affect 77?% of women by menopause and account for $9.4 billion in healthcare costs each year. Although UFs are heritable, genetic risk is poorly understood. The first genome-wide association study (GWAS) of UFs was recently performed in a Japanese population, with reported genome-wide significance for single nucleotide polymorphisms (SNPs) across three chromosomal regions. We tested these SNPs for association with UFs in US cohorts. Women were enrolled in the Right from the Start (RFTS) cohort and the BioVU DNA repository. UF status in both cohorts was determined by pelvic imaging. We tested 65 candidate and haplotype-tagging SNPs for association with UFs presence using logistic regression in RFTS and the top three GWAS-associated SNPs in BioVU. We also combined association results from both cohorts using meta-analysis. 1,086 European American (EA) cases and 1,549 controls were examined. Two SNP associations replicated [blocked early in transport 1 homolog (BET1L) rs2280543, RFTS–BioVU meta-odds ratio (OR)?=?0.67 95?% confidence interval (CI) 0.38-.96, Q?=?0.70, I?=?0, p?=?6.9?×?10?; trinucleotide repeat containing 6B (TNRC6B) rs12484776, RFTS–BioVU meta-OR?=?1.21, 95?% CI 1.07-.35, Q?=?0.24, I?=?28.37, p?=?8.7?×?10?). Meta-analyses combining evidence from RFTS, BioVU, and prior GWAS showed little heterogeneity in effect sizes across studies, with meta-p values between 7.45?×?10? and 3.89?×?10?, which were stronger than prior GWAS and supported associations observed for all previously identified loci. These data suggest common variants increase risk for UF in both EA and Japanese populations. However, further research is needed to assess the role of these genes across other racial groups.