Rare coding variants and X-linked loci associated with age at menarche

Kathryn L. Lunetta; Felix R. Day; Patrick Sulem; Katherine S. Ruth; Joyce Y. Tung; David A. Hinds; Tonu Esko; Cathy E. Elks; Elisabeth Altmaier; Chunyan He; Jennifer E. Huffman; Evelin Mihailov; Eleonora Porcu; Antonietta Robino; Lynda M. Rose; Ursula M. Schick; Lisette Stolk; Alexander Teumer; Deborah J. Thompson; Michela Traglia; Carol A. Wang; Laura M. Yerges-Armstrong; Antonis C. Antoniou; Caterina Barbieri; Andrea D. Coviello; Francesco Cucca; Ellen W. Demerath; Alison M. Dunning; Ilaria Gandin; Megan L. Grove; Daniel F. Gudbjartsson; Lynne J. Hocking; Albert Hofman; Jinyan Huang; Rebecca D. Jackson; David Karasik; Jennifer Kriebel; Ethan M. Lange; Leslie A. Lange; Claudia Langenberg; Xin Li; Jian'an Luan; Reedik Maegi; Alanna C. Morrison; Sandosh Padmanabhan; Ailith Pirie; Ozren Polasek; David Porteous; Alex P. Reiner; Yvonne T. van der Schouw

doi:10.1038/ncomms8756

Rare coding variants and X-linked loci associated with age at menarche

Kathryn L. Lunetta, Felix R. Day, Patrick Sulem, Katherine S. Ruth, Joyce Y. Tung, David A. Hinds, Tonu Esko, Cathy E. Elks, Elisabeth Altmaier, Chunyan He, Jennifer E. Huffman, Evelin Mihailov, Eleonora Porcu, Antonietta Robino, Lynda M. Rose, Ursula M. Schick, Lisette Stolk, Alexander Teumer, Deborah J. Thompson, Michela TragliaCarol A. Wang, Laura M. Yerges-Armstrong, Antonis C. Antoniou, Caterina Barbieri, Andrea D. Coviello, Francesco Cucca, Ellen W. Demerath, Alison M. Dunning, Ilaria Gandin, Megan L. Grove, Daniel F. Gudbjartsson, Lynne J. Hocking, Albert Hofman, Jinyan Huang, Rebecca D. Jackson, David Karasik, Jennifer Kriebel, Ethan M. Lange, Leslie A. Lange, Claudia Langenberg, Xin Li, Jian'an Luan, Reedik Maegi, Alanna C. Morrison, Sandosh Padmanabhan, Ailith Pirie, Ozren Polasek, David Porteous, Alex P. Reiner, Yvonne T. van der Schouw, ,

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Abstract

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P

Original language	English
Article number	7756
Number of pages	7
Journal	Nature Communications [E]
Volume	6
DOIs	https://doi.org/10.1038/ncomms8756
Publication status	Published - Aug 2015

Keywords

GENOME-WIDE ASSOCIATION
SUSCEPTIBILITY LOCI
IDENTIFICATION
METAANALYSIS
MUTATIONS
CANCER
LAMB2

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Lunetta, K. L., Day, F. R., Sulem, P., Ruth, K. S., Tung, J. Y., Hinds, D. A., Esko, T., Elks, C. E., Altmaier, E., He, C., Huffman, J. E., Mihailov, E., Porcu, E., Robino, A., Rose, L. M., Schick, U. M., Stolk, L., Teumer, A., Thompson, D. J. (2015). Rare coding variants and X-linked loci associated with age at menarche. Nature Communications [E], 6, Article 7756. https://doi.org/10.1038/ncomms8756

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title = "Rare coding variants and X-linked loci associated with age at menarche",

abstract = "More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P",

keywords = "GENOME-WIDE ASSOCIATION, SUSCEPTIBILITY LOCI, IDENTIFICATION, METAANALYSIS, MUTATIONS, CANCER, LAMB2",

author = "Lunetta, {Kathryn L.} and Day, {Felix R.} and Patrick Sulem and Ruth, {Katherine S.} and Tung, {Joyce Y.} and Hinds, {David A.} and Tonu Esko and Elks, {Cathy E.} and Elisabeth Altmaier and Chunyan He and Huffman, {Jennifer E.} and Evelin Mihailov and Eleonora Porcu and Antonietta Robino and Rose, {Lynda M.} and Schick, {Ursula M.} and Lisette Stolk and Alexander Teumer and Thompson, {Deborah J.} and Michela Traglia and Wang, {Carol A.} and Yerges-Armstrong, {Laura M.} and Antoniou, {Antonis C.} and Caterina Barbieri and Coviello, {Andrea D.} and Francesco Cucca and Demerath, {Ellen W.} and Dunning, {Alison M.} and Ilaria Gandin and Grove, {Megan L.} and Gudbjartsson, {Daniel F.} and Hocking, {Lynne J.} and Albert Hofman and Jinyan Huang and Jackson, {Rebecca D.} and David Karasik and Jennifer Kriebel and Lange, {Ethan M.} and Lange, {Leslie A.} and Claudia Langenberg and Xin Li and Jian'an Luan and Reedik Maegi and Morrison, {Alanna C.} and Sandosh Padmanabhan and Ailith Pirie and Ozren Polasek and David Porteous and Reiner, {Alex P.} and {van der Schouw}, {Yvonne T.}",

year = "2015",

month = aug,

doi = "10.1038/ncomms8756",

language = "English",

volume = "6",

journal = "Nature Communications [E]",

issn = "2041-1723",

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Lunetta, KL, Day, FR, Sulem, P, Ruth, KS, Tung, JY, Hinds, DA, Esko, T, Elks, CE, Altmaier, E, He, C, Huffman, JE, Mihailov, E, Porcu, E, Robino, A, Rose, LM, Schick, UM, Stolk, L, Teumer, A, Thompson, DJ, Traglia, M, Wang, CA, Yerges-Armstrong, LM, Antoniou, AC, Barbieri, C, Coviello, AD, Cucca, F, Demerath, EW, Dunning, AM, Gandin, I, Grove, ML, Gudbjartsson, DF, Hocking, LJ, Hofman, A, Huang, J, Jackson, RD, Karasik, D, Kriebel, J, Lange, EM, Lange, LA, Langenberg, C, Li, X, Luan, J, Maegi, R, Morrison, AC, Padmanabhan, S, Pirie, A, Polasek, O, Porteous, D, Reiner, AP, van der Schouw, YT 2015, 'Rare coding variants and X-linked loci associated with age at menarche', Nature Communications [E], vol. 6, 7756. https://doi.org/10.1038/ncomms8756

TY - JOUR

T1 - Rare coding variants and X-linked loci associated with age at menarche

AU - Lunetta, Kathryn L.

AU - Day, Felix R.

AU - Sulem, Patrick

AU - Ruth, Katherine S.

AU - Tung, Joyce Y.

AU - Hinds, David A.

AU - Esko, Tonu

AU - Elks, Cathy E.

AU - Altmaier, Elisabeth

AU - He, Chunyan

AU - Huffman, Jennifer E.

AU - Mihailov, Evelin

AU - Porcu, Eleonora

AU - Robino, Antonietta

AU - Rose, Lynda M.

AU - Schick, Ursula M.

AU - Stolk, Lisette

AU - Teumer, Alexander

AU - Thompson, Deborah J.

AU - Traglia, Michela

AU - Wang, Carol A.

AU - Yerges-Armstrong, Laura M.

AU - Antoniou, Antonis C.

AU - Barbieri, Caterina

AU - Coviello, Andrea D.

AU - Cucca, Francesco

AU - Demerath, Ellen W.

AU - Dunning, Alison M.

AU - Gandin, Ilaria

AU - Grove, Megan L.

AU - Gudbjartsson, Daniel F.

AU - Hocking, Lynne J.

AU - Hofman, Albert

AU - Huang, Jinyan

AU - Jackson, Rebecca D.

AU - Karasik, David

AU - Kriebel, Jennifer

AU - Lange, Ethan M.

AU - Lange, Leslie A.

AU - Langenberg, Claudia

AU - Li, Xin

AU - Luan, Jian'an

AU - Maegi, Reedik

AU - Morrison, Alanna C.

AU - Padmanabhan, Sandosh

AU - Pirie, Ailith

AU - Polasek, Ozren

AU - Porteous, David

AU - Reiner, Alex P.

AU - van der Schouw, Yvonne T.

PY - 2015/8

Y1 - 2015/8

N2 - More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P

AB - More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P

KW - GENOME-WIDE ASSOCIATION

KW - SUSCEPTIBILITY LOCI

KW - IDENTIFICATION

KW - METAANALYSIS

KW - MUTATIONS

KW - CANCER

KW - LAMB2

U2 - 10.1038/ncomms8756

DO - 10.1038/ncomms8756

M3 - Article

SN - 2041-1723

VL - 6

JO - Nature Communications [E]

JF - Nature Communications [E]

M1 - 7756

ER -

Rare coding variants and X-linked loci associated with age at menarche

Abstract

Keywords

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