Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

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Standard

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. / Sapkota, Yadav; Steinthorsdottir, Valgerdur; Morris, Andrew P.; Fassbender, Amelie; Rahmioglu, Nilufer; De Vivo, Immaculata; Buring, Julie E.; Zhang, Futao; Edwards, Todd L.; Jones, Sarah; Dorien, O.; Peterse, Daniëlle; Rexrode, Kathryn M.; Ridker, Paul M.; Schork, Andrew J.; MacGregor, Stuart; Martin, Nicholas G.; Becker, Christian M.; Adachi, Sosuke; Yoshihara, Kosuke; Enomoto, Takayuki; Takahashi, Atsushi; Kamatani, Yoichiro; Matsuda, Koichi; Kubo, Michiaki; Thorleifsson, Gudmar; Geirsson, Reynir T.; Thorsteinsdottir, Unnur; Wallace, Leanne M.; Werge, Thomas M.; Thompson, Wesley K.; Yang, Jian; Velez Edwards, DIgna R.; Nyegaard, Mette; Low, Siew Kee; Zondervan, Krina T.; Missmer, Stacey A.; D'Hooghe, Thomas; Montgomery, Grant W.; Chasman, Daniel I.; Stefansson, Kari; Tung, Joyce Y.; Nyholt, Dale R.

I: Nature Communications, Bind 8, 15539, 24.05.2017.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Sapkota, Y, Steinthorsdottir, V, Morris, AP, Fassbender, A, Rahmioglu, N, De Vivo, I, Buring, JE, Zhang, F, Edwards, TL, Jones, S, Dorien, O, Peterse, D, Rexrode, KM, Ridker, PM, Schork, AJ, MacGregor, S, Martin, NG, Becker, CM, Adachi, S, Yoshihara, K, Enomoto, T, Takahashi, A, Kamatani, Y, Matsuda, K, Kubo, M, Thorleifsson, G, Geirsson, RT, Thorsteinsdottir, U, Wallace, LM, Werge, TM, Thompson, WK, Yang, J, Velez Edwards, DIR, Nyegaard, M, Low, SK, Zondervan, KT, Missmer, SA, D'Hooghe, T, Montgomery, GW, Chasman, DI, Stefansson, K, Tung, JY & Nyholt, DR 2017, 'Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism', Nature Communications, bind 8, 15539. https://doi.org/10.1038/ncomms15539

APA

Sapkota, Y., Steinthorsdottir, V., Morris, A. P., Fassbender, A., Rahmioglu, N., De Vivo, I., Buring, J. E., Zhang, F., Edwards, T. L., Jones, S., Dorien, O., Peterse, D., Rexrode, K. M., Ridker, P. M., Schork, A. J., MacGregor, S., Martin, N. G., Becker, C. M., Adachi, S., ... Nyholt, D. R. (2017). Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nature Communications, 8, [15539]. https://doi.org/10.1038/ncomms15539

Vancouver

Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I o.a. Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nature Communications. 2017 maj 24;8. 15539. https://doi.org/10.1038/ncomms15539

Author

Sapkota, Yadav ; Steinthorsdottir, Valgerdur ; Morris, Andrew P. ; Fassbender, Amelie ; Rahmioglu, Nilufer ; De Vivo, Immaculata ; Buring, Julie E. ; Zhang, Futao ; Edwards, Todd L. ; Jones, Sarah ; Dorien, O. ; Peterse, Daniëlle ; Rexrode, Kathryn M. ; Ridker, Paul M. ; Schork, Andrew J. ; MacGregor, Stuart ; Martin, Nicholas G. ; Becker, Christian M. ; Adachi, Sosuke ; Yoshihara, Kosuke ; Enomoto, Takayuki ; Takahashi, Atsushi ; Kamatani, Yoichiro ; Matsuda, Koichi ; Kubo, Michiaki ; Thorleifsson, Gudmar ; Geirsson, Reynir T. ; Thorsteinsdottir, Unnur ; Wallace, Leanne M. ; Werge, Thomas M. ; Thompson, Wesley K. ; Yang, Jian ; Velez Edwards, DIgna R. ; Nyegaard, Mette ; Low, Siew Kee ; Zondervan, Krina T. ; Missmer, Stacey A. ; D'Hooghe, Thomas ; Montgomery, Grant W. ; Chasman, Daniel I. ; Stefansson, Kari ; Tung, Joyce Y. ; Nyholt, Dale R. / Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. I: Nature Communications. 2017 ; Bind 8.

Bibtex

@article{137405e18f8f47ecaccdf56791b847dd,
title = "Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism",
abstract = "Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10-8), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts.",
author = "Yadav Sapkota and Valgerdur Steinthorsdottir and Morris, {Andrew P.} and Amelie Fassbender and Nilufer Rahmioglu and {De Vivo}, Immaculata and Buring, {Julie E.} and Futao Zhang and Edwards, {Todd L.} and Sarah Jones and O. Dorien and Dani{\"e}lle Peterse and Rexrode, {Kathryn M.} and Ridker, {Paul M.} and Schork, {Andrew J.} and Stuart MacGregor and Martin, {Nicholas G.} and Becker, {Christian M.} and Sosuke Adachi and Kosuke Yoshihara and Takayuki Enomoto and Atsushi Takahashi and Yoichiro Kamatani and Koichi Matsuda and Michiaki Kubo and Gudmar Thorleifsson and Geirsson, {Reynir T.} and Unnur Thorsteinsdottir and Wallace, {Leanne M.} and Werge, {Thomas M.} and Thompson, {Wesley K.} and Jian Yang and {Velez Edwards}, {DIgna R.} and Mette Nyegaard and Low, {Siew Kee} and Zondervan, {Krina T.} and Missmer, {Stacey A.} and Thomas D'Hooghe and Montgomery, {Grant W.} and Chasman, {Daniel I.} and Kari Stefansson and Tung, {Joyce Y.} and Nyholt, {Dale R.}",
year = "2017",
month = may,
day = "24",
doi = "10.1038/ncomms15539",
language = "English",
volume = "8",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

AU - Sapkota, Yadav

AU - Steinthorsdottir, Valgerdur

AU - Morris, Andrew P.

AU - Fassbender, Amelie

AU - Rahmioglu, Nilufer

AU - De Vivo, Immaculata

AU - Buring, Julie E.

AU - Zhang, Futao

AU - Edwards, Todd L.

AU - Jones, Sarah

AU - Dorien, O.

AU - Peterse, Daniëlle

AU - Rexrode, Kathryn M.

AU - Ridker, Paul M.

AU - Schork, Andrew J.

AU - MacGregor, Stuart

AU - Martin, Nicholas G.

AU - Becker, Christian M.

AU - Adachi, Sosuke

AU - Yoshihara, Kosuke

AU - Enomoto, Takayuki

AU - Takahashi, Atsushi

AU - Kamatani, Yoichiro

AU - Matsuda, Koichi

AU - Kubo, Michiaki

AU - Thorleifsson, Gudmar

AU - Geirsson, Reynir T.

AU - Thorsteinsdottir, Unnur

AU - Wallace, Leanne M.

AU - Werge, Thomas M.

AU - Thompson, Wesley K.

AU - Yang, Jian

AU - Velez Edwards, DIgna R.

AU - Nyegaard, Mette

AU - Low, Siew Kee

AU - Zondervan, Krina T.

AU - Missmer, Stacey A.

AU - D'Hooghe, Thomas

AU - Montgomery, Grant W.

AU - Chasman, Daniel I.

AU - Stefansson, Kari

AU - Tung, Joyce Y.

AU - Nyholt, Dale R.

PY - 2017/5/24

Y1 - 2017/5/24

N2 - Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10-8), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts.

AB - Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide association case-control data sets, totalling 17,045 endometriosis cases and 191,596 controls. In addition to replicating previously reported loci, we identify five novel loci significantly associated with endometriosis risk (P<5 × 10-8), implicating genes involved in sex steroid hormone pathways (FN1, CCDC170, ESR1, SYNE1 and FSHB). Conditional analysis identified five secondary association signals, including two at the ESR1 locus, resulting in 19 independent single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which together explain up to 5.19% of variance in endometriosis. These results highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, and offer unique opportunities for more targeted functional research efforts.

U2 - 10.1038/ncomms15539

DO - 10.1038/ncomms15539

M3 - Journal article

C2 - 28537267

AN - SCOPUS:85019935832

VL - 8

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 15539

ER -

ID: 188710997