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

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Fältnamn	Indikatorer	Metadata
000		08228naa a2201837 4500
001		oai:DiVA.org:umu-109458
003		SwePub
008		150928s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:lup.lub.lu.se:06e04520-0536-4bda-ac54-91521c73a325
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1094582 URI
024	7	a https://doi.org/10.1038/ncomms87562 DOI
024	7	a https://lup.lub.lu.se/record/79689952 URI
040		a (SwePub)umud (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Lunetta, Kathryn L.4 aut
245	1 0	a Rare coding variants and X-linked loci associated with age at menarche
264		c 2015-08-04
264	1	b Springer Science and Business Media LLC,c 2015
338		a electronic2 rdacarrier
520		a 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<5 x 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P = 9.4 x 10(-13)) and FAAH2 (rs5914101, P = 4.9 x 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P = 2.8 x 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain similar to 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
700	1	a Day, Felix R.4 aut
700	1	a Sulem, Patrick4 aut
700	1	a Ruth, Katherine S.4 aut
700	1	a Tung, Joyce Y.4 aut
700	1	a Hinds, David A.4 aut
700	1	a Esko, Tonu4 aut
700	1	a Elks, Cathy E.4 aut
700	1	a Altmaier, Elisabeth4 aut
700	1	a He, Chunyan4 aut
700	1	a Huffman, Jennifer E.4 aut
700	1	a Mihailov, Evelin4 aut
700	1	a Porcu, Eleonora4 aut
700	1	a Robino, Antonietta4 aut
700	1	a Rose, Lynda M.4 aut
700	1	a Schick, Ursula M.4 aut
700	1	a Stolk, Lisette4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Thompson, Deborah J.4 aut
700	1	a Traglia, Michela4 aut
700	1	a Wang, Carol A.4 aut
700	1	a Yerges-Armstrong, Laura M.4 aut
700	1	a Antoniou, Antonis C.4 aut
700	1	a Barbieri, Caterina4 aut
700	1	a Coviello, Andrea D.4 aut
700	1	a Cucca, Francesco4 aut
700	1	a Demerath, Ellen W.4 aut
700	1	a Dunning, Alison M.4 aut
700	1	a Gandin, Ilaria4 aut
700	1	a Grove, Megan L.4 aut
700	1	a Gudbjartsson, Daniel F.4 aut
700	1	a Hocking, Lynne J.4 aut
700	1	a Hofman, Albert4 aut
700	1	a Huang, Jinyan4 aut
700	1	a Jackson, Rebecca D.4 aut
700	1	a Karasik, David4 aut
700	1	a Kriebel, Jennifer4 aut
700	1	a Lange, Ethan M.4 aut
700	1	a Lange, Leslie A.4 aut
700	1	a Langenberg, Claudia4 aut
700	1	a Li, Xin4 aut
700	1	a Luan, Jian'an4 aut
700	1	a Maegi, Reedik4 aut
700	1	a Morrison, Alanna C.4 aut
700	1	a Padmanabhan, Sandosh4 aut
700	1	a Pirie, Ailith4 aut
700	1	a Polasek, Ozren4 aut
700	1	a Porteous, David4 aut
700	1	a Reiner, Alex P.4 aut
700	1	a Rivadeneira, Fernando4 aut
700	1	a Rudan, Igor4 aut
700	1	a Sala, Cinzia F.4 aut
700	1	a Schlessinger, David4 aut
700	1	a Scott, Robert A.4 aut
700	1	a Stoeckl, Doris4 aut
700	1	a Visser, Jenny A.4 aut
700	1	a Voelker, Uwe4 aut
700	1	a Vozzi, Diego4 aut
700	1	a Wilson, James G.4 aut
700	1	a Zygmunt, Marek4 aut
700	1	a Boerwinkle, Eric4 aut
700	1	a Buring, Julie E.4 aut
700	1	a Crisponi, Laura4 aut
700	1	a Easton, Douglas F.4 aut
700	1	a Hayward, Caroline4 aut
700	1	a Hu, Frank B.4 aut
700	1	a Liu, Simin4 aut
700	1	a Metspalu, Andres4 aut
700	1	a Pennell, Craig E.4 aut
700	1	a Ridker, Paul M.4 aut
700	1	a Strauch, Konstantin4 aut
700	1	a Streeten, Elizabeth A.4 aut
700	1	a Toniolo, Daniela4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a Ulivi, Sheila4 aut
700	1	a Voelzke, Henry4 aut
700	1	a Wareham, Nicholas J.4 aut
700	1	a Wellons, Melissa4 aut
700	1	a Franceschini, Nora4 aut
700	1	a Chasman, Daniel I.4 aut
700	1	a Thorsteinsdottir, Unnur4 aut
700	1	a Murray, Anna4 aut
700	1	a Stefansson, Kari4 aut
700	1	a Murabito, Joanne M.4 aut
700	1	a Ong, Ken K.4 aut
700	1	a Perry, John R. B.4 aut
700	1	a Forouhi, Nita G.4 aut
700	1	a Kerrison, Nicola D.4 aut
700	1	a Sharp, Stephen J.4 aut
700	1	a Sims, Matt4 aut
700	1	a Barroso, Ines4 aut
700	1	a Deloukas, Panos4 aut
700	1	a McCarthy, Mark I.4 aut
700	1	a Arriola, Larraitz4 aut
700	1	a Balkau, Beverley4 aut
700	1	a Barricarte, Aurelio4 aut
700	1	a Boeing, Heiner4 aut
700	1	a Franks, Paul W.u Umeå University,Lund University,Lunds universitet,Umeå universitet,Medicin,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-plf
700	1	a Gonzalez, Carlos4 aut
700	1	a Grioni, Sara4 aut
700	1	a Kaaks, Rudolf4 aut
700	1	a Key, Timothy J.4 aut
700	1	a Navarro, Carmen4 aut
700	1	a Nilsson, Peteru Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)medf-pni
700	1	a Overvad, Kim4 aut
700	1	a Palli, Domenico4 aut
700	1	a Panico, Salvatore4 aut
700	1	a Ramon Quiros, J.4 aut
700	1	a Rolandsson, Olovu Umeå universitet,Allmänmedicin4 aut0 (Swepub:umu)olro0005
700	1	a Sacerdote, Carlotta4 aut
700	1	a Sanchez, Maria-Jose4 aut
700	1	a Slimani, Nadia4 aut
700	1	a Tjonneland, Anne4 aut
700	1	a Tumino, Rosario4 aut
700	1	a van der A, Daphne L.4 aut
700	1	a van der Schouw, Yvonne T.4 aut
700	1	a Riboli, Elio4 aut
700	1	a Smith, Blair H.4 aut
700	1	a Campbell, Archie4 aut
700	1	a Deary, Ian J.4 aut
700	1	a McIntosh, Andrew M.4 aut
710	2	a Umeå universitetb Medicin4 org
773	0	t Nature Communicationsd : Springer Science and Business Media LLCg 6q 6x 2041-1723
856	4	u https://doi.org/10.1038/ncomms8756y Fulltext
856	4	u https://umu.diva-portal.org/smash/get/diva2:859678/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://www.nature.com/articles/ncomms8756.pdf
856	4	u http://dx.doi.org/10.1038/ncomms8756x freey FULLTEXT
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-109458
856	4 8	u https://doi.org/10.1038/ncomms8756
856	4 8	u https://lup.lub.lu.se/record/7968995

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By the author/editor: Lunetta, Kathryn ...; Day, Felix R.; Sulem, Patrick; Ruth, Katherine ...; Tung, Joyce Y.; Hinds, David A.; show more...; Esko, Tonu; Elks, Cathy E.; Altmaier, Elisab ...; He, Chunyan; Huffman, Jennife ...; Mihailov, Evelin; Porcu, Eleonora; Robino, Antoniet ...; Rose, Lynda M.; Schick, Ursula M ...; Stolk, Lisette; Teumer, Alexande ...; Thompson, Debora ...; Traglia, Michela; Wang, Carol A.; Yerges-Armstrong ...; Antoniou, Antoni ...; Barbieri, Cateri ...; Coviello, Andrea ...; Cucca, Francesco; Demerath, Ellen ...; Dunning, Alison ...; Gandin, Ilaria; Grove, Megan L.; Gudbjartsson, Da ...; Hocking, Lynne J ...; Hofman, Albert; Huang, Jinyan; Jackson, Rebecca ...; Karasik, David; Kriebel, Jennife ...; Lange, Ethan M.; Lange, Leslie A.; Langenberg, Clau ...; Li, Xin; Luan, Jian'an; Maegi, Reedik; Morrison, Alanna ...; Padmanabhan, San ...; Pirie, Ailith; Polasek, Ozren; Porteous, David; Reiner, Alex P.; Rivadeneira, Fer ...; Rudan, Igor; Sala, Cinzia F.; Schlessinger, Da ...; Scott, Robert A.; Stoeckl, Doris; Visser, Jenny A.; Voelker, Uwe; Vozzi, Diego; Wilson, James G.; Zygmunt, Marek; Boerwinkle, Eric; Buring, Julie E.; Crisponi, Laura; Easton, Douglas ...; Hayward, Carolin ...; Hu, Frank B.; Liu, Simin; Metspalu, Andres; Pennell, Craig E ...; Ridker, Paul M.; Strauch, Konstan ...; Streeten, Elizab ...; Toniolo, Daniela; Uitterlinden, An ...; Ulivi, Sheila; Voelzke, Henry; Wareham, Nichola ...; Wellons, Melissa; Franceschini, No ...; Chasman, Daniel ...; Thorsteinsdottir ...; Murray, Anna; Stefansson, Kari; Murabito, Joanne ...; Ong, Ken K.; Perry, John R. B ...; Forouhi, Nita G.; Kerrison, Nicola ...; Sharp, Stephen J ...; Sims, Matt; Barroso, Ines; Deloukas, Panos; McCarthy, Mark I ...; Arriola, Larrait ...; Balkau, Beverley; Barricarte, Aure ...; Boeing, Heiner; Franks, Paul W.; Gonzalez, Carlos; Grioni, Sara; Kaaks, Rudolf; Key, Timothy J.; Navarro, Carmen; Nilsson, Peter; Overvad, Kim; Palli, Domenico; Panico, Salvator ...; Ramon Quiros, J.; Rolandsson, Olov; Sacerdote, Carlo ...; Sanchez, Maria-J ...; Slimani, Nadia; Tjonneland, Anne; Tumino, Rosario; van der A, Daphn ...; van der Schouw, ...; Riboli, Elio; Smith, Blair H.; Campbell, Archie; Deary, Ian J.; McIntosh, Andrew ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Endocrinology an ...

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