Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Cathy E Elks; John R B Perry; Patrick Sulem; Daniel I Chasman; Nora Franceschini; Chunyan He; Kathryn L Lunetta; Jenny A Visser; Enda M Byrne; Diana L Cousminer; Daniel F Gudbjartsson; Tõnu Esko; Bjarke Feenstra; Jouke-Jan Hottenga; Daniel L Koller; Zoltán Kutalik; Peng Lin; Massimo Mangino; Mara Marongiu; Patrick F McArdle; Albert V Smith; Lisette Stolk; Sophie H van Wingerden; Jing Hua Zhao; Eva Albrecht; Tanguy Corre; Erik Ingelsson; Caroline Hayward; Patrik K E Magnusson; Erin N Smith; Shelia Ulivi; Nicole M Warrington; Lina Zgaga; Helen Alavere; Najaf Amin; Thor Aspelund; Stefania Bandinelli; Inês Barroso; Gerald S Berenson; Sven Bergmann; Hannah Blackburn; Eric Boerwinkle; Julie E Buring; Fabio Busonero; Harry Campbell; Stephen J Chanock; Wei Chen; Marilyn C Cornelis; David Couper; Tuomas Oskari Kilpeläinen; GIANT Consortium

doi:10.1038/ng.714

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Cathy E Elks, John R B Perry, Patrick Sulem, Daniel I Chasman, Nora Franceschini, Chunyan He, Kathryn L Lunetta, Jenny A Visser, Enda M Byrne, Diana L Cousminer, Daniel F Gudbjartsson, Tõnu Esko, Bjarke Feenstra, Jouke-Jan Hottenga, Daniel L Koller, Zoltán Kutalik, Peng Lin, Massimo Mangino, Mara Marongiu, Patrick F McArdleAlbert V Smith, Lisette Stolk, Sophie H van Wingerden, Jing Hua Zhao, Eva Albrecht, Tanguy Corre, Erik Ingelsson, Caroline Hayward, Patrik K E Magnusson, Erin N Smith, Shelia Ulivi, Nicole M Warrington, Lina Zgaga, Helen Alavere, Najaf Amin, Thor Aspelund, Stefania Bandinelli, Inês Barroso, Gerald S Berenson, Sven Bergmann, Hannah Blackburn, Eric Boerwinkle, Julie E Buring, Fabio Busonero, Harry Campbell, Stephen J Chanock, Wei Chen, Marilyn C Cornelis, David Couper, Tuomas Oskari Kilpeläinen, GIANT Consortium

356 Citationer (Scopus)

Abstract

To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10 -60) and 9q31.2 (P = 2.2 × 10 -33), we identified 30 new menarche loci (all P < 5 × 10 -8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10 -6). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.

Originalsprog	Engelsk
Tidsskrift	Nature Genetics
Vol/bind	42
Udgave nummer	12
Sider (fra-til)	1077-85
Antal sider	9
ISSN	1061-4036
DOI	https://doi.org/10.1038/ng.714
Status	Udgivet - 1 dec. 2010

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Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., Cousminer, D. L., Gudbjartsson, D. F., Esko, T., Feenstra, B., Hottenga, J-J., Koller, D. L., Kutalik, Z., Lin, P., Mangino, M., Marongiu, M., ... GIANT Consortium (2010). Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nature Genetics, 42(12), 1077-85. https://doi.org/10.1038/ng.714

Elks, CE, Perry, JRB, Sulem, P, Chasman, DI, Franceschini, N, He, C, Lunetta, KL, Visser, JA, Byrne, EM, Cousminer, DL, Gudbjartsson, DF, Esko, T, Feenstra, B, Hottenga, J-J, Koller, DL, Kutalik, Z, Lin, P, Mangino, M, Marongiu, M, McArdle, PF, Smith, AV, Stolk, L, van Wingerden, SH, Zhao, JH, Albrecht, E, Corre, T, Ingelsson, E, Hayward, C, Magnusson, PKE, Smith, EN, Ulivi, S, Warrington, NM, Zgaga, L, Alavere, H, Amin, N, Aspelund, T, Bandinelli, S, Barroso, I, Berenson, GS, Bergmann, S, Blackburn, H, Boerwinkle, E, Buring, JE, Busonero, F, Campbell, H, Chanock, SJ, Chen, W, Cornelis, MC, Couper, D, Oskari Kilpeläinen, T & GIANT Consortium 2010, 'Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies', Nature Genetics, bind 42, nr. 12, s. 1077-85. https://doi.org/10.1038/ng.714

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title = "Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies",

abstract = "To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10 -60) and 9q31.2 (P = 2.2 × 10 -33), we identified 30 new menarche loci (all P < 5 × 10 -8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10 -6). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.",

keywords = "Adolescent, Aging, Body Height, Body Size, Child, DNA Copy Number Variations, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Inheritance Patterns, Menarche, Obesity, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Reproducibility of Results, Time Factors",

author = "Elks, {Cathy E} and Perry, {John R B} and Patrick Sulem and Chasman, {Daniel I} and Nora Franceschini and Chunyan He and Lunetta, {Kathryn L} and Visser, {Jenny A} and Byrne, {Enda M} and Cousminer, {Diana L} and Gudbjartsson, {Daniel F} and T{\~o}nu Esko and Bjarke Feenstra and Jouke-Jan Hottenga and Koller, {Daniel L} and Zolt{\'a}n Kutalik and Peng Lin and Massimo Mangino and Mara Marongiu and McArdle, {Patrick F} and Smith, {Albert V} and Lisette Stolk and {van Wingerden}, {Sophie H} and Zhao, {Jing Hua} and Eva Albrecht and Tanguy Corre and Erik Ingelsson and Caroline Hayward and Magnusson, {Patrik K E} and Smith, {Erin N} and Shelia Ulivi and Warrington, {Nicole M} and Lina Zgaga and Helen Alavere and Najaf Amin and Thor Aspelund and Stefania Bandinelli and In{\^e}s Barroso and Berenson, {Gerald S} and Sven Bergmann and Hannah Blackburn and Eric Boerwinkle and Buring, {Julie E} and Fabio Busonero and Harry Campbell and Chanock, {Stephen J} and Wei Chen and Cornelis, {Marilyn C} and David Couper and {Oskari Kilpel{\"a}inen}, Tuomas and {GIANT Consortium}",

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doi = "10.1038/ng.714",

language = "English",

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pages = "1077--85",

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T1 - Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

AU - Elks, Cathy E

AU - Perry, John R B

AU - Sulem, Patrick

AU - Chasman, Daniel I

AU - Franceschini, Nora

AU - He, Chunyan

AU - Lunetta, Kathryn L

AU - Visser, Jenny A

AU - Byrne, Enda M

AU - Cousminer, Diana L

AU - Gudbjartsson, Daniel F

AU - Esko, Tõnu

AU - Feenstra, Bjarke

AU - Hottenga, Jouke-Jan

AU - Koller, Daniel L

AU - Kutalik, Zoltán

AU - Lin, Peng

AU - Mangino, Massimo

AU - Marongiu, Mara

AU - McArdle, Patrick F

AU - Smith, Albert V

AU - Stolk, Lisette

AU - van Wingerden, Sophie H

AU - Zhao, Jing Hua

AU - Albrecht, Eva

AU - Corre, Tanguy

AU - Ingelsson, Erik

AU - Hayward, Caroline

AU - Magnusson, Patrik K E

AU - Smith, Erin N

AU - Ulivi, Shelia

AU - Warrington, Nicole M

AU - Zgaga, Lina

AU - Alavere, Helen

AU - Amin, Najaf

AU - Aspelund, Thor

AU - Bandinelli, Stefania

AU - Barroso, Inês

AU - Berenson, Gerald S

AU - Bergmann, Sven

AU - Blackburn, Hannah

AU - Boerwinkle, Eric

AU - Buring, Julie E

AU - Busonero, Fabio

AU - Campbell, Harry

AU - Chanock, Stephen J

AU - Chen, Wei

AU - Cornelis, Marilyn C

AU - Couper, David

AU - Oskari Kilpeläinen, Tuomas

AU - GIANT Consortium

PY - 2010/12/1

Y1 - 2010/12/1

N2 - To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10 -60) and 9q31.2 (P = 2.2 × 10 -33), we identified 30 new menarche loci (all P < 5 × 10 -8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10 -6). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.

AB - To identify loci for age at menarche, we performed a meta-analysis of 32 genome-wide association studies in 87,802 women of European descent, with replication in up to 14,731 women. In addition to the known loci at LIN28B (P = 5.4 × 10 -60) and 9q31.2 (P = 2.2 × 10 -33), we identified 30 new menarche loci (all P < 5 × 10 -8) and found suggestive evidence for a further 10 loci (P < 1.9 × 10 -6). The new loci included four previously associated with body mass index (in or near FTO, SEC16B, TRA2B and TMEM18), three in or near other genes implicated in energy homeostasis (BSX, CRTC1 and MCHR2) and three in or near genes implicated in hormonal regulation (INHBA, PCSK2 and RXRG). Ingenuity and gene-set enrichment pathway analyses identified coenzyme A and fatty acid biosynthesis as biological processes related to menarche timing.

KW - Adolescent

KW - Aging

KW - Body Height

KW - Body Size

KW - Child

KW - DNA Copy Number Variations

KW - Female

KW - Genetic Loci

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Humans

KW - Inheritance Patterns

KW - Menarche

KW - Obesity

KW - Polymorphism, Single Nucleotide

KW - Quantitative Trait Loci

KW - Reproducibility of Results

KW - Time Factors

U2 - 10.1038/ng.714

DO - 10.1038/ng.714

M3 - Journal article

C2 - 21102462

SN - 1061-4036

VL - 42

SP - 1077

EP - 1085

JO - Nature: New biology

JF - Nature: New biology

IS - 12

ER -

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

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