Identification of susceptibility genes for peritoneal, ovarian, and deep infiltrating endometriosis using a pooled sample-based genome-wide association study

BioMed Research International

Volumn 2015, Issue , 2015, Pages

  Borghese, Bruno ^a,b,c   Tost, Jörg ^d   De Surville, Magalie ^d   Busato, Florence ^d   Letourneur, Frank ^a,b   Mondon, Françoise ^a,b   Vaiman, Daniel ^a,b   Chapron, Charles ^a,b,c  

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d DIF   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SUPT3H PROTEIN; TRANSCRIPTION FACTOR RUNX2; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN 366; CARRIER PROTEIN; ZNF366 PROTEIN, HUMAN;

ARTICLE; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; DEEP INFILTRATING ENDOMETRIOSIS; ENDOMETRIOSIS; ENDOMETRIUM TUMOR; ENTEROPATHY; ESTROGEN METABOLISM; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MONTE CARLO METHOD; PERITONEAL DISEASE; PERITONEAL ENDOMETRIOSIS; QUALITY CONTROL; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; OVARY; PATHOLOGY; PERITONEUM;

CARRIER PROTEINS; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; OVARY; PERITONEUM; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84924021508     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2015/461024     Document Type: Article

References (46)

1. P. Stratton and K. J. Berkley, "Chronic pelvic pain and endometriosis: translational evidence of the relationship and implications," Human Reproduction Update, vol. 17, no. 3, pp. 327-346, 2011.
2. D. deZiegler, B. Borghese, and C. Chapron, "Endometriosis and infertility: pathophysiology and management," The Lancet, vol. 376, no. 9742, pp. 730-738, 2010.
3. X. Gao, J. Outley,M. Botteman, J. Spalding, J.A. Simon, and C. L. Pashos, "Economic burden of endometriosis," Fertility and Sterility, vol. 86, no. 6, pp. 1561-1572, 2006.
4. S. Simoens, L. Hummelshoj, and T. D'Hooghe, "Endometriosis: cost estimates and methodological perspective," Human Reproduction Update, vol. 13, no. 4, pp. 395-404, 2007.
5. S. A. Treloar, D. T. O'Connor,v.M.O'Connor, and N.G. Martin, "Genetic influences on endometriosis in an Australian twin sample," Fertility and Sterility, vol. 71, no. 4, pp. 701-710, 1999.
6. S. Uno, H. Zembutsu,A. Hirasawa et al., "Agenome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese," Nature Genetics, vol. 42, no. 8, pp. 707-710, 2010.
7. B. Borghese, F. Mondon, J.-C. Noël et al., "Gene expression profile for ectopic versus eutopic endometrium provides new insights into endometriosis oncogenic potential," Molecular Endocrinology, vol. 22, no. 11, pp. 2557-2562, 2008.
8. B. Borghese, S. Barbaux, F. Mondon et al., "Research resource: genome-wide profiling of methylated promoters in endometriosis reveals a subtelomeric location of hypermethylation," Molecular Endocrinology, vol. 24, no. 9, pp. 1872-1885, 2010.
9. S. vainio,M. Heikkilä, A. Kispert,N. Chin, and A. P. McMahon, "Female development in mammals is regulated by Wnt-4 signalling," Nature, vol. 397, no. 6718, pp. 405-409, 1999.
10. A. Boyer, É. Lapointe, X. Zheng et al., "WNT4 is required for normal ovarian follicle development and female fertility," The FASEB Journal, vol. 24, no. 8, pp. 3010-3025, 2010.
11. J. N. Painter, C. A. Anderson, D. R. Nyholt et al., "Genomewide association study identifies a locus at 7p15.2 associated with endometriosis," Nature Genetics, vol. 43, no. 1, pp. 51-54, 2011.
12. AFS, "Revised American Fertility Society classification of endometriosis: 1985," Fertility and Sterility, vol. 43, no. 3, pp. 351-352, 1985.
13. H. M. Albertsen, R. Chettier, P. Farrington, and K. Ward, "Genome-wide association study link novel loci to endometriosis," PLoS ONE, vol. 8, no. 3,Article ID e58257, 2013.
14. L. Pagliardini, D. Gentilini, P. vigano et al., "An Italian association study and meta-analysis with previous GWAS confirm WNT4, CDKN2BAS and FN1 as the first identified susceptibility loci for endometriosis," Journal of Medical Genetics, vol. 50, no. 1, pp. 43-46, 2013.
15. N. Rahmioglu, S. A. Missmer, G. W. Montgomery, and K. T. Zondervan, "Insights into assessing the genetics of endometriosis," Current Obstetrics and Gynecology Reports, vol. 1, no. 3, pp. 124-137, 2012.
16. C. Chapron, N. Chopin, B. Borghese et al., "Deeply infiltrating endometriosis: pathogenetic implications of the anatomical distribution," Human Reproduction, vol. 21, no. 7, pp. 1839-1845, 2006.
17. C. Chapron, A. Bourret, N. Chopin et al., "Surgery for bladder endometriosis: long-term Result s and concomitant management of associated posterior deep lesions," Human Reproduction, vol. 25, no. 4, pp. 884-889, 2010.
18. I. A. Brosens and J. J. Brosens, "Redefining endometriosis: is deep endometriosis a progressive disease?" Human Reproduction, vol. 15, no. 1, pp. 1-3, 2000.
19. Y. Wu, A. Kajdacsy-Balla, E. Strawn et al., "Transcriptional characterizations of differences between eutopic and ectopic endometrium," Endocrinology, vol. 147, no. 1, pp. 232-246, 2006.
20. K. M. Eyster, O. Klinkova, V. Kennedy, and K. A. Hansen, "Whole genome deoxyribonucleic acid microarray analysis of gene expression in ectopic versus eutopic endometrium," Fertility and Sterility, vol. 88, no. 6, pp. 1505-1533, 2007.
21. J. Kitawaki, H. Koshiba, Y. Kitaoka et al., "Interferon-γ gene dinucleotide (CA) repeat and interleukin-4 promoter region (-590C/T) polymorphisms in Japanese patients with endometriosis," Human Reproduction, vol. 19, no. 8, pp. 1765-1769, 2004.
22. S. Kang, S. Z. Li, N. Wang et al., "Association between genetic polymorphisms in fibroblast growth factor (FGF)1 and FGF2 and risk of endometriosis and adenomyosis inChinesewomen," Human Reproduction, vol. 25, no. 7, pp. 1806-1811, 2010.
23. B. Borghese, J.-D. Chiche, D. vernerey et al., "Genetic polymorphisms of matrix metalloproteinase 12 and 13 genes are implicated in endometriosis progression," Human Reproduction, vol. 23, no. 5, pp. 1207-1213, 2008.
24. E. Somigliana, P.vercellini,U. Gattei,N. Chopin, I. Chiodo, and C. Chapron, "Bladder endometriosis: getting closer and closer to the unifying metastatic hypothesis," Fertility and Sterility, vol. 87, no. 6, pp. 1287-1290, 2007.
25. C. Chapron, C. Pietin-vialle, B. Borghese, C. Davy, H. Foulot, and N. Chopin, "Associated ovarian endometrioma is a marker for greater severity of deeply infiltrating endometriosis," Fertility and Sterility, vol. 92, no. 2, pp. 453-457, 2009.
26. C. Chapron, A. Fauconnier, M. vieira et al., "Anatomical distribution of deeply infiltrating endometriosis: surgical implications and proposition for a classification," Human Reproduction, vol. 18, no. 1, pp. 157-161, 2003.
27. N. Metropolis and S. Ulam, "TheMonte Carlomethod," Journal of the American Statistical Association, vol. 44, no. 247, pp. 335-341, 1949.
28. B. Borghese, P. Santulli, D. Héquet et al., "Genetic polymorphisms of DNMT3L involved in hypermethylation of chromosomal ends are associated with greater risk of developing ovarian endometriosis," American Journal of Pathology, vol. 180, no. 5, pp. 1781-1786, 2012.
29. E. Meaburn, L. M. Butcher, L. C. Schalkwyk, and R. Plomin, "Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans,"Nucleic Acids Research, vol. 34, no. 4, article e27, 2006.
30. J. V. Pearson, M. J. Huentelman, R. F. Halperin et al., "Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies," The American Journal of Human Genetics, vol. 80, no. 1, pp. 126-139, 2007.
31. S. Macgregor, Z. Z. Zhao, A. Henders, M. G. Nicholas, G. W. Montgomery, and P. M. visscher, "Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays," Nucleic Acids Research, vol. 36, no. 6, article e35, 2008.
32. J. E. Craig, A.W. Hewitt, A. E. McMellon et al., "Rapid inexpensive genome-wide association using pooled whole blood," Genome Research, vol. 19, no. 11, pp. 2075-2080, 2009.
33. P. vercellini, L. Fedele, G. Aimi, G. Pietropaolo, D. Consonni, and P.G. Crosignani, "Associationbetweenendometriosis stage, lesion type, patient characteristics and severity of pelvic pain symptoms: amultivariate analysis of over 1000 patients," Human Reproduction, vol. 22, no. 1, pp. 266-271, 2007.
34. B. Dousset, M. Leconte, B. Borghese et al., "Complete surgery for low rectal endometriosis: long-term results of a 100-case prospective study," Annals of Surgery, vol. 251, no. 5, pp. 887-895, 2010.
35. C. C. Laurie, K. F. Doheny, D. B. Mirel et al., "Quality control and quality assurance in genotypic data for genome-wide association studies," Genetic Epidemiology, vol. 34, no. 6, pp. 591-602, 2010.
36. C. Chapron, I. Chiodo, M. Leconte et al., "Severe ureteral endometriosis: the intrinsic type is not so rare after complete surgical exeresis of deep endometriotic lesions," Fertility and Sterility, vol. 93, no. 7, pp. 2115-2120, 2010.
37. M. Kim, A. P. Roesener, P. R. F. Mendonca, and G. S. Mastick, "Robo1 and Robo2 have distinct roles in pioneer longitudinal axon guidance," Developmental Biology, vol. 358, no. 1, pp. 181-188, 2011.
38. W. Lu, A. M. van Eerde, X. Fan et al., "Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux,"The American Journal ofHuman Genetics, vol. 80, no. 4, pp. 616-632, 2007.
39. V. Anaf, P. Simon, I. El Nakadi et al., "Hyperalgesia, nerve infiltration and nerve growth factor expression in deep adenomyotic nodules, peritoneal and ovarian endometriosis," Human Reproduction, vol. 17, no. 7, pp. 1895-1900, 2002.
40. A. J. Bass, M. S. Lawrence, L. E. Brace et al., "Genomic sequencing of colorectal adenocarcinomas identifies a recurrent vTI1A-TCF7L2 fusion,"NatureGenetics, vol. 43,no. 10,pp. 964-970, 2011.
41. J. Lopez-Garcia, M. Periyasamy, R. S. Thomas et al., "ZNF366 is an estrogen receptor corepressor that acts through CtBP and histone deacetylases," Nucleic Acids Research, vol. 34, no. 21, pp. 6126-6136, 2006.
42. A. M. Sieuwerts, M. Ansems, M. P. Look et al., "Clinical significance of the nuclear receptor co-regulator DC-SCRIPT in breast cancer: an independent retrospective validation study," Breast Cancer Research, vol. 12, no. 6, article R103, 2010.
43. M. Ansems, S. Hontelez, M.W. G. Looman et al., "DC-SCRIPT: nuclear receptor modulation and prognostic significance in primary breast cancer," Journal of the National Cancer Institute, vol. 102, no. 1, pp. 54-68, 2010.
44. M. Ansems, S. Hontelez, N. Karthaus, P. N. Span, and G. J. Adema, "Crosstalk and DC-SCRIPT: expanding nuclear receptor modulation," Biochimica et Biophysica Acta-Reviews on Cancer, vol. 1806, no. 2, pp. 193-199, 2010.
45. S. E. Bulun, "Endometriosis," The New England Journal of Medicine, vol. 360, no. 3, pp. 268-279, 2009.
46. R. Ciampolini, K. Moazami-Goudarzi, D. vaiman et al., "Individual multilocus genotypes using microsatellite polymorphisms to permit the analysis of the genetic variability within and between Italian beef cattle breeds," Journal of Animal Science, vol. 73, no. 11, pp. 3259-3268, 1995.