Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population

Human Reproduction

Volumn 28, Issue 3, 2013, Pages 835-839

  Sundqvist, J ^a   Xu, H ^a,b   Vodolazkaia, A ^c   Fassbender, A ^c   Kyama, C ^c   Bokor, A ^c   Gemzell Danielsson, K ^a   D'Hooghe, T M ^c   Falconer, H ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

endometriosis; replication; single nucleotide polymorphism

Indexed keywords

DNA;

ARTICLE; BLOOD SAMPLING; CAUCASIAN; CONTROLLED STUDY; DNA EXTRACTION; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PERITONEAL BIOPSY; SAMPLING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84874290544     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des457     Document Type: Article

References (20)

1. Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 1997;67: 817-821.
2. Adachi S, Tajima A, Quan J, Haino K, Yoshihara K, Masuzaki H, Katabuchi H, Ikuma K, Suginami H, Nishida N et al. Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population. J Hum Genet 2012;55: 816-821.
3. Falconer H, D'Hooghe T, Fried G. Endometriosis and genetic polymorphisms. Obstet Gynecol Surv 2007;62: 616-628.
4. Goldstein DB. Common genetic variation and human traits. N Engl J Med 2009;360: 1696-1698.
5. Kemppinen A, Sawcer S, Compston A. Genome-wide association studies in multiple sclerosis: lessons and future prospects. Brief Funct Genomics 2011;10: 61-70.
6. Kennedy S. The genetics of endometriosis. Eur J Obstet Gynecol Reprod Biol 1999;82: 129-133.
7. Kennedy S, Bennett S, Weeks DE. Affected sib-pair analysis in endometriosis. Hum Reprod Update 2001;7: 411-418.
8. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005;308: 385-389.
9. Klein C, Lohmann K, Ziegler A. The promise and limitations of genome-wide association studies. JAMA 2012;8: 1-2.
10. Ma L, Brautbar A, Boerwinkle E, Sing CF, Clark AG, Keinan A. Knowledge-driven analysis identifies a gene-gene interaction affecting high-density lipoprotein cholesterol levels in multi-ethnic populations. PLoS Genet 2012;8: e1002714.
11. Matsuzaki S, Canis M, Pouly JL, Botchorishvili R, Dechelotte PJ, Mage G. Differential expression of genes in eutopic and ectopic endometrium from patients with ovarian endometriosis. Fertil Steril 2006;86: 548-553.
12. Nisolle M, Donnez J. Peritoneal endometriosis, ovarian endometriosis, and adenomyotic nodules of the rectovaginal septum are three different entities. Fertil Steril 1997;68: 585-596.
13. Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J, Lee SH, Lambert A, Zhao ZZ, Roseman F, Guo Q et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet 2012;43: 51-54.
14. Plenge RM. Rheumatoid arthritis genetics: 2009 update. Curr Rheumatol Rep 2009;11: 351-356.
15. Skol AD, Scott LJ, Abecasis GR, Boehnke M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 2006;38: 209-213.
16. Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Genetic factors contribute to the risk of developing endometriosis. Hum Reprod 2002;17: 555-559.
17. Sundqvist J, Falconer H, Seddighzadeh M, Vodolazkaia A, Fassbender A, Kyama C, Bokor A, Stephansson O, Padyukov L, Gemzell-Danielsson K et al. Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1. Fertil Steril 2011;95: 437-440.
18. Treloar SA, O'Connor DT, O'Connor VM, Martin NG. Genetic influences on endometriosis in an Australian twin sample. sueT@qimr.edu.au. Fertil Steril 1999;71: 701-710.
19. Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, Aoki D, Kamatani N, Hirata K, Nakamura Y. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet 2010;42: 707-710.
20. Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Hum Genet 2012;90: 7-24.