Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

Journal of Human Genetics - Tập 55 Số 12 - Trang 816-821 - 2010
Sosuke Adachi1, Atsushi Tajima2, Jinhua Quan1, Kazufumi Haino1, Kosuke Yoshihara1, Hideaki Masuzaki3, Hidetaka Katabuchi4, K Ikuma5, H. Suginami6, Nao Nishida7, Ryozo Kuwano8, Yuji Okazaki9, Yoshiya Kawamura10, Tsukasa Sasaki11, Katsushi Tokunaga7, Ituro Inoue2, Kenichi Tanaka1
1Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
2Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Japan
3Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
4Department of Reproductive Medicine and Surgery/Gynecology, Faculty of Medical and Pharmaceutical Science, Kumamoto University, Kumamoto, Japan
5Department of Obstetrics and Gynecology, Takarazuka City Hospital, Takarazuka, Japan
613Present address: Department of Obstetrics and Gynecology, Takanohara Central Hospital, Nara, Japan.,
7Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
8Department of Molecular Genetics, Center for Bioresources, Brain Research Institute, Niigata University, Niigata, Japan
9Department of Neurology, Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan
10Department of Neuropsychiatry, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
11Office for Mental Health Support and Graduate School of Education, The University of Tokyo, Tokyo, Japan

Tóm tắt

Từ khóa


Tài liệu tham khảo

Giudice, L. C. & Kao, L. C. Endometriosis. Lancet 364, 1789–1799 (2004).

Gao, X.,, Outley, J., Botteman, M., Spalding, J., Simon, J. A. & Pashos, C. L. Economic burden of endometriosis. Fertil. Steril. 86, 1561–1572 (2006).

Bulun, S. E. Endometriosis. N. Engl. J. Med. 360, 268–279 (2009).

Montgomery, G. W., Nyholt, D. R., Zhao, Z. Z., Treloar, S. A., Painter, J. N., Missmer, S. A. et al. The search for genes contributing to endometriosis risk. Hum. Reprod. Update 14, 447–457 (2008).

Berkley, K. J., Rapkin, A. J. & Papka, R. E. The pains of endometriosis. Science 308, 1587–1589 (2005).

Kennedy, S., Mardon, H. & Barlow, D. Familial endometriosis. J. Assist. Reprod. Genet. 12, 32–34 (1995).

Simpson, J. L. & Bischoff, F. Z. Heritability and molecular genetic studies of endometriosis. Ann. NY Acad. Sci. 955, 239–251; discussion 293–295, 396–406 (2002).

Stefansson, H.,, Geirsson, R. T., Steinthorsdottir, V., Jonsson, H., Manolescu, A., Kong, A. et al. Genetic factors contribute to the risk of developing endometriosis. Hum. Reprod. 17, 555–559 (2002).

Treloar, S.,, Hadfield, R., Montgomery, G., Lambert, A., Wicks, J., Barlow, D. H. et al. The International Endogene Study: a collection of families for genetic research in endometriosis. Fertil. Steril. 78, 679–685 (2002).

Treloar, S. A., O’Connor, D. T., O’Connor, V. M. & Martin, N. G. Genetic influences on endometriosis in an Australian twin sample. [email protected]. Fertil. Steril. 71, 701–710 (1999).

Simpson, J. L., Elias, S., Malinak, L. R. & Buttram, V. C. Jr Heritable aspects of endometriosis. I. Genetic studies. Am. J. Obstet. Gynecol. 137, 327–331 (1980).

Kashima, K.,, Ishimaru, T., Okamura, H., Suginami, H., Ikuma, K., Murakami, T. et al. Familial risk among Japanese patients with endometriosis. Int. J. Gynaecol. Obstet. 84, 61–64 (2004).

Hadfield, R. M., Mardon, H. J., Barlow, D. H. & Kennedy, S. H. Endometriosis in monozygotic twins. Fertil. Steril. 68, 941–942 (1997).

Moen, M. H. Endometriosis in monozygotic twins. Acta. Obstet. Gynecol. Scand. 73, 59–62 (1994).

Zondervan, K. T.,, Treloar, S. A., Lin, J., Weeks, D. E., Nyholt, D. R., Mangion, J. et al. Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15. Hum. Reprod. 22, 717–728 (2007).

Treloar, S. A.,, Zhao, Z. Z., Le, L., Zondervan, K. T., Martin, N. G., Kennedy, S. et al. Variants in EMX2 and PTEN do not contribute to risk of endometriosis. Mol. Hum. Reprod. 13, 587–594 (2007).

Pearson, T. A. & Manolio, T. A. How to interpret a genome-wide association study. JAMA 299, 1335–1344 (2008).

Koike, A., Nishida, N., Inoue, I., Tsuji, S. & Tokunaga, K. Genome-wide association database developed in the Japanese Integrated Database Project. J. Hum. Genet. 54, 543–546 (2009).

Otowa, T.,, Tanii, H., Sugaya, N., Yoshida, E., Inoue, K., Yasuda, S. et al. Genome-wide association study of panic disorder in the Japanese population. J. Hum. Genet. 54, 122–126 (2009).

Nishida, N.,, Koike, A., Tajima, A., Ogasawara, Y., Ishibashi, Y., Uehara, Y. et al. Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals. BMC Genomics 9, 431 (2008).

Rabbee, N. A genotype calling algorithm for Affymetrix SNP arrays. Bioinformatics 22, 7–12 (2006).

Wellcome Trust Case Control Consortium. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 447, 661–678 (2007).

Purcell, S.,, Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007).

Yamaguchi-Kabata, Y.,, Nakazono, K., Takahashi, A., Saito, S., Hosono, N., Kubo, M. et al. Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am. J. Hum. Genet. 83, 445–456 (2008).

Nakaoka, H. & Inoue, I. Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse. J. Hum. Genet. 54, 615–623 (2009).

Mantel, N. & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 22, 719–748 (1959).

Ioannidis, J. P., Patsopoulos, N. A. & Evangelou, E. Heterogeneity in meta-analyses of genome-wide association investigations. PLoS One. 2, e841 (2007).

Barrett, J. C., Fry, B., Maller, J. & Daly, M. J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263–265 (2005).

Purcell, S., Cherny, S. S. & Sham, P. C. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19, 149–150 (2003).

Uno, S.,, Zembutsu, H., Hirasawa, A., Takahashi, A., Kubo, M., Akahane, T. et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat. Genet. 42, 707–710 (2010).

Fitzgerald, K. A. Integr-ating IL-1 alpha in antiviral host defenses. Immunity 31, 7–9 (2009).

Kondera-Anasz, Z., Sikora, J., Mielczarek-Palacz, A. & Jonca, M. Concentrations of interleukin (IL)-1alpha, IL-1 soluble receptor type II (IL-1 sRII) and IL-1 receptor antagonist (IL-1 Ra) in the peritoneal fluid and serum of infertile women with endometriosis. Eur. J. Obstet. Gynecol. Reprod Biol. 123, 198–203 (2005).