Publications

BibTex format

@article{Li:2020:10.1016/j.ajhg.2020.02.006,
author = {Li, C and Stoma, S and Lotta, LA and Warner, S and Albrecht, E and Allione, A and Arp, PP and Broer, L and Buxton, JL and Alves, ADSC and Deelen, J and Fedko, IO and Gordon, SD and Jiang, T and Karlsson, R and Kerrison, N and Loe, TK and Mangino, M and Milaneschi, Y and Miraglio, B and Pervjakova, N and Russo, A and Surakka, I and van, der Spek A and Verhoeven, JE and Amin, N and Beekman, M and Blakemore, A and Canzian, F and Hamby, SE and Hottenga, J-J and Jones, PD and Jousilahti, P and Magi, R and Medland, SE and Montgomery, GW and Nyholt, DR and Perola, M and Pietilainen, KH and Salomaa, V and Sillanpaa, E and Suchiman, HE and van, Heemst D and Willemsen, G and Agudo, A and Boeing, H and Boomsma, D and Chirlaque, M-D and Fagherazzi, G and Ferrari, P and Franks, P and Gieger, C and Eriksson, JG and Gunter, M and Hagg, S and Hovatta, I and Imaz, L and Kaprio, J and Kaaks, R and Key, T and Krogh, V and Martin, NG and Melander, O and Metspalu, A and Moreno, C and Onland-Moret, NC and N},
doi = {10.1016/j.ajhg.2020.02.006},
journal = {American Journal of Human Genetics},
pages = {389--404},
title = {Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length},
url = {http://dx.doi.org/10.1016/j.ajhg.2020.02.006},
volume = {106},
year = {2020}
}

Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank participants suggest that genetically shorter telomere length increases the risk of hypothyroidism and decreases the risk of thyroid cancer, lymphoma, and a range of proliferative conditions. Our results replicate previously reported associations with increased risk of coronary artery disease and lower risk for multiple cancer types. Our findings substantially expand current knowledge on genes that regulate LTL and their impact on human health and disease.
AU  - Li,C
AU  - Stoma,S
AU  - Lotta,LA
AU  - Warner,S
AU  - Albrecht,E
AU  - Allione,A
AU  - Arp,PP
AU  - Broer,L
AU  - Buxton,JL
AU  - Alves,ADSC
AU  - Deelen,J
AU  - Fedko,IO
AU  - Gordon,SD
AU  - Jiang,T
AU  - Karlsson,R
AU  - Kerrison,N
AU  - Loe,TK
AU  - Mangino,M
AU  - Milaneschi,Y
AU  - Miraglio,B
AU  - Pervjakova,N
AU  - Russo,A
AU  - Surakka,I
AU  - van,der Spek A
AU  - Verhoeven,JE
AU  - Amin,N
AU  - Beekman,M
AU  - Blakemore,A
AU  - Canzian,F
AU  - Hamby,SE
AU  - Hottenga,J-J
AU  - Jones,PD
AU  - Jousilahti,P
AU  - Magi,R
AU  - Medland,SE
AU  - Montgomery,GW
AU  - Nyholt,DR
AU  - Perola,M
AU  - Pietilainen,KH
AU  - Salomaa,V
AU  - Sillanpaa,E
AU  - Suchiman,HE
AU  - van,Heemst D
AU  - Willemsen,G
AU  - Agudo,A
AU  - Boeing,H
AU  - Boomsma,D
AU  - Chirlaque,M-D
AU  - Fagherazzi,G
AU  - Ferrari,P
AU  - Franks,P
AU  - Gieger,C
AU  - Eriksson,JG
AU  - Gunter,M
AU  - Hagg,S
AU  - Hovatta,I
AU  - Imaz,L
AU  - Kaprio,J
AU  - Kaaks,R
AU  - Key,T
AU  - Krogh,V
AU  - Martin,NG
AU  - Melander,O
AU  - Metspalu,A
AU  - Moreno,C
AU  - Onland-Moret,NC
AU  - Nilsson,P
AU  - Ong,KK
AU  - Overvad,K
AU  - Palli,D
AU  - Panico,S
AU  - Pedersen,NL
AU  - Penninx,BWJH
AU  - Ramon,Quiros J
AU  - Riitta,Jarvelin M
AU  - Rodriguez-Barranco,M
AU  - Scott,RA
AU  - Severi,G
AU  - Slagboom,PE
AU  - Spector,TD
AU  - Tjonneland,A
AU  - Trichopoulou,A
AU  - Tumino,R
AU  - Uitterlinden,AG
AU  - van,der Schouw YT
AU  - van,Duijn CM
AU  - Weiderpass,E
AU  - Denchi,EL
AU  - Matullo,G
AU  - Butterworth,AS
AU  - Danesh,J
AU  - Samani,NJ
AU  - Wareham,NJ
AU  - Nelson,CP
AU  - Langenberg,C
AU  - Codd,V
DO  - 10.1016/j.ajhg.2020.02.006
EP  - 404
PY  - 2020///
SN  - 0002-9297
SP  - 389
TI  - Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
T2  - American Journal of Human Genetics
UR  - http://dx.doi.org/10.1016/j.ajhg.2020.02.006
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000519101800015&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.sciencedirect.com/science/article/pii/S0002929720300483?via%3Dihub
UR  - http://hdl.handle.net/10044/1/85457
VL  - 106
ER  -

Download

ProfessorAlexBlakemore

Contact

Location

Summary

Citation

BibTex format

RIS format (EndNote, RefMan)