Imperial College London


Faculty of MedicineSchool of Public Health

Reader in Cardiometabolic Disease Epidemiology



+44 (0)20 7594 3347a.dehghan CV




157Norfolk PlaceSt Mary's Campus






BibTex format

author = {Joubert, BR and Felix, JF and Yousefi, P and Bakulski, KM and Just, AC and Breton, C and Reese, SE and Markunas, CA and Richmond, RC and Xu, CJ and Küpers, LK and Oh, SS and Hoyo, C and Gruzieva, O and Söderhäll, C and Salas, LA and Baïz, N and Zhang, H and Lepeule, J and Ruiz, C and Ligthart, S and Wang, T and Taylor, JA and Duijts, L and Sharp, GC and Jankipersadsing, SA and Nilsen, RM and Vaez, A and Fallin, MD and Hu, D and Litonjua, AA and Fuemmeler, BF and Huen, K and Kere, J and Kull, I and Munthe-Kaas, MC and Gehring, U and Bustamante, M and Saurel-Coubizolles, MJ and Quraishi, BM and Ren, J and Tost, J and Gonzalez, JR and Peters, MJ and Håberg, SE and Xu, Z and van, Meurs JB and Gaunt, TR and Kerkhof, M and Corpeleijn, E and Feinberg, AP and Eng, C and Baccarelli, AA and Benjamin, Neelon SE and Bradman, A and Merid, SK and Bergström, A and Herceg, Z and Hernandez-Vargas, H and Brunekreef, B and Pinart, M and Heude, B and Ewart, S and Yao, J and Lemonnier, N and Franco, OH and},
doi = {10.1016/j.ajhg.2016.02.019},
journal = {Am J Hum Genet},
pages = {680--696},
title = {DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.},
url = {},
volume = {98},
year = {2016}

RIS format (EndNote, RefMan)

AB - Epigenetic modifications, including DNA methylation, represent a potential mechanism for environmental impacts on human disease. Maternal smoking in pregnancy remains an important public health problem that impacts child health in a myriad of ways and has potential lifelong consequences. The mechanisms are largely unknown, but epigenetics most likely plays a role. We formed the Pregnancy And Childhood Epigenetics (PACE) consortium and meta-analyzed, across 13 cohorts (n = 6,685), the association between maternal smoking in pregnancy and newborn blood DNA methylation at over 450,000 CpG sites (CpGs) by using the Illumina 450K BeadChip. Over 6,000 CpGs were differentially methylated in relation to maternal smoking at genome-wide statistical significance (false discovery rate, 5%), including 2,965 CpGs corresponding to 2,017 genes not previously related to smoking and methylation in either newborns or adults. Several genes are relevant to diseases that can be caused by maternal smoking (e.g., orofacial clefts and asthma) or adult smoking (e.g., certain cancers). A number of differentially methylated CpGs were associated with gene expression. We observed enrichment in pathways and processes critical to development. In older children (5 cohorts, n = 3,187), 100% of CpGs gave at least nominal levels of significance, far more than expected by chance (p value < 2.2 × 10(-16)). Results were robust to different normalization methods used across studies and cell type adjustment. In this large scale meta-analysis of methylation data, we identified numerous loci involved in response to maternal smoking in pregnancy with persistence into later childhood and provide insights into mechanisms underlying effects of this important exposure.
AU - Joubert,BR
AU - Felix,JF
AU - Yousefi,P
AU - Bakulski,KM
AU - Just,AC
AU - Breton,C
AU - Reese,SE
AU - Markunas,CA
AU - Richmond,RC
AU - Xu,CJ
AU - Küpers,LK
AU - Oh,SS
AU - Hoyo,C
AU - Gruzieva,O
AU - Söderhäll,C
AU - Salas,LA
AU - Baïz,N
AU - Zhang,H
AU - Lepeule,J
AU - Ruiz,C
AU - Ligthart,S
AU - Wang,T
AU - Taylor,JA
AU - Duijts,L
AU - Sharp,GC
AU - Jankipersadsing,SA
AU - Nilsen,RM
AU - Vaez,A
AU - Fallin,MD
AU - Hu,D
AU - Litonjua,AA
AU - Fuemmeler,BF
AU - Huen,K
AU - Kere,J
AU - Kull,I
AU - Munthe-Kaas,MC
AU - Gehring,U
AU - Bustamante,M
AU - Saurel-Coubizolles,MJ
AU - Quraishi,BM
AU - Ren,J
AU - Tost,J
AU - Gonzalez,JR
AU - Peters,MJ
AU - Håberg,SE
AU - Xu,Z
AU - van,Meurs JB
AU - Gaunt,TR
AU - Kerkhof,M
AU - Corpeleijn,E
AU - Feinberg,AP
AU - Eng,C
AU - Baccarelli,AA
AU - Benjamin,Neelon SE
AU - Bradman,A
AU - Merid,SK
AU - Bergström,A
AU - Herceg,Z
AU - Hernandez-Vargas,H
AU - Brunekreef,B
AU - Pinart,M
AU - Heude,B
AU - Ewart,S
AU - Yao,J
AU - Lemonnier,N
AU - Franco,OH
AU - Wu,MC
AU - Hofman,A
AU - McArdle,W
AU - Van,der Vlies P
AU - Falahi,F
AU - Gillman,MW
AU - Barcellos,LF
AU - Kumar,A
AU - Wickman,M
AU - Guerra,S
AU - Charles,MA
AU - Holloway,J
AU - Auffray,C
AU - Tiemeier,HW
AU - Smith,GD
AU - Postma,D
AU - Hivert,MF
AU - Eskenazi,B
AU - Vrijheid,M
AU - Arshad,H
AU - Antó,JM
AU - Dehghan,A
AU - Karmaus,W
AU - Annesi-Maesano,I
AU - Sunyer,J
AU - Ghantous,A
AU - Pershagen,G
AU - Holland,N
AU - Murphy,SK
AU - DeMeo,DL
AU - Burchard,EG
AU - Ladd-Acosta,C
AU - Snieder,H
AU - Nystad,W
AU - Koppelman,GH
AU - Relton,CL
AU - Jaddoe,VW
AU - Wilcox,A
AU - Melén,E
AU - London,SJ
DO - 10.1016/j.ajhg.2016.02.019
EP - 696
PY - 2016///
SP - 680
TI - DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis.
T2 - Am J Hum Genet
UR -
UR -
VL - 98
ER -