Association between endometriosis and the interleukin 1A (IL1A) locus

Human Reproduction

Volumn 30, Issue 1, 2015, Pages 239-248

  Sapkota, Yadav ^a   Low, Siew Kee ^a,b   Attia, John ^a,c   Gordon, Scott D ^a,d   Henders, Anjali K ^a,e   Holliday, Elizabeth G ^a,f   Macgregor, Stuart ^a,g   Martin, Nicholas G ^a,b   McEvoy, Mark ^a,h   Morris, Andrew P ^a   Takahashi, Atsushi ^b   Scott, Rodney J ^c   Kubo, Michiaki ^d   Zondervan, Krina T ^e   Montgomery, Grant W ^f   Nyholt, Dale R ^g  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b RIKEN Center for Integrative Medical Sciences   (Japan)

^c UNIVERSITY OF NEWCASTLE   (Australia)

^d HUNTER MEDICAL RESEARCH INSTITUTE   (Australia)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY OF NEWCASTLE   (Australia)

^g JOHN HUNTER HOSPITAL   (Australia)

^h UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

endometriosis; genome wide association studies; immune responses; inflammation; interleukin 1A

Indexed keywords

INTERLEUKIN 1ALPHA; IL1A PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENDOMETRIOSIS; EUROPEAN; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE; HERITABILITY; HUMAN; JAPANESE (PEOPLE); PATHOGENESIS; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; META ANALYSIS; RISK FACTOR;

CASE-CONTROL STUDIES; ENDOMETRIOSIS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERLEUKIN-1ALPHA; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84922429374     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/deu267     Document Type: Article

References (25)

1. Abrao MS, Podgaec S, Filho BM, Ramos LO, Pinotti JA, De Oliveira RM. The use of biochemical markers in the diagnosis of pelvic endometriosis. Hum Reprod 1997;12:2523-2527
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 2010;55:816-821
3. Albertsen HM, Chettier R, Farrington P, Ward K. Genome-wiDe association study link novel loci to endometriosis. PLoS One 2013;8:e58257
4. American Society for Reproductive Medicine. Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 1997;67:817-821
5. Barbieri RL, Niloff JM, BastRC Jr., Scaetzl E, KistnerRW, Knapp RC. Elevated serum concentrations of CA-125in patients with adVanced endometriosis. Fertil Steril 1986;45:630-634
6. Barrier BF. Immunology of endometriosis. Clin Obstet Gynecol 2010; 53:397-402
7. Cochran WG. The combination of estimates from different experiments. Biometrics 1954;10:101-129
8. Gabay C, Lamacchia C, Palmer G. IL-1 pathways in inflammation and human diseases. Nat Rev Rheumatol 2010;6:232-241
9. Gao X, Outley J, Botteman M, Spalding J, Simon JA, Pashos CL. Economic burDen of endometriosis. Fertil Steril 2006;86:1561-1572
10. Han B, Eskin E. Random-effects moDel aimed at discovering associations in meta-Analysis of genome-wiDe association studies. Am J Hum Genet 2011;88:586-598
11. Hata Y, Nakaoka H, Yoshihara K, Adachi S, Haino K, Yamaguchi M, Nishikawa N, Kashima K, Yahata T, Tajima A et al. A nonsynonymous variant of IL1A is associated with endometriosis in Japanese population. J Hum Genet 2013;58:517-520
12. Ioannidis JP, Patsopoulos NA, EVangelou E. Heterogeneity in meta-Analyses of genome-wiDe association investigations. PLoS One 2007;2:e841
13. Li Y, Willer C, Sanna S, Abecasis G. Genotype imputation. Annu Rev Genomics Hum Genet 2009;10:387-406
14. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet EpiDemiol 2010;34:816-834
15. Magi R, Morris AP. G WAMA: software for genome-wiDe association meta-Analysis. BMC Bioinformatics 2010;11:288.
16. MatHu R SP. Autoimmunity in endometriosis: releVance to infertility. Am J Reprod Immunol 2000;44:89-95
17. McClay JL, Adkins DE, Aberg K, Bukszar J, Khachane AN, Keefe RS, Perkins DO, McEvoy JP, Stroup TS, Vann RE et al. Genome-wiDe pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. Neuropsychopharmacology 2011; 36:616-626
18. McEvoy M, SmithW, DEste C, Duke J, Peel R, Schofield P, Scott R, Byles J, Henry D, Ewald B et al. Cohort profile: the Hunter Community Study. Int J EpiDemiol 2010;39:1452-1463
19. Nyholt DR, Low SK, AnDerson CA, Painter JN, Uno S, Morris AP, MacGregor S, Gordon SD, HenDers AK, Martin NG et al. Genome-wiDe association meta-Analysis iDentifies new endometriosis risk loci. Nat Genet 2012;44:1355-1359
20. Painter JN, AnDersonCA, 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 2011;43:51-54
21. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, BenDer D, Maller J, Sklar P, De Bakker PI, Daly MJ et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575
22. Treloar SA, OConnor DT, OConnor VM, Martin NG. Genetic influences on endometriosis in an Australian twin sample. sueT@qimr.edu.au. Fertil Steril 1999;71:701-710
23. 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
24. Vercellini P, Crosignani P, Somigliana E, Vigano P, Frattaruolo MP, FeDele L. Waiting for Godot: a commonsense approach to the medical treatment of endometriosis. Hum Reprod 2011;26:3-13
25. Vincent K. Pelvic pain in women: clinical and scientific aspects. Curr Opin Support Palliat Care 2011;5:143-149