Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

نویسندگان

  • Robin N Beaumont
  • Nicole M Warrington
  • Alana Cavadino
  • Jessica Tyrrell
  • Michael Nodzenski
  • Momoko Horikoshi
  • Frank Geller
  • Ronny Myhre
  • Rebecca C Richmond
  • Lavinia Paternoster
  • Jonathan P Bradfield
  • Eskil Kreiner-Møller
  • Ville Huikari
  • Sarah Metrustry
  • Kathryn L Lunetta
  • Jodie N Painter
  • Jouke-Jan Hottenga
  • Catherine Allard
  • Sheila J Barton
  • Ana Espinosa
  • Julie A Marsh
  • Catherine Potter
  • Ge Zhang
  • Wei Ang
  • Diane J Berry
  • Luigi Bouchard
  • Shikta Das
  • Hakon Hakonarson
  • Jani Heikkinen
  • Øyvind Helgeland
  • Berthold Hocher
  • Albert Hofman
  • Hazel M Inskip
  • Samuel E Jones
  • Manolis Kogevinas
  • Penelope A Lind
  • Letizia Marullo
  • Sarah E Medland
  • Anna Murray
  • Jeffrey C Murray
  • Pål R Njølstad
  • Ellen A Nohr
  • Christoph Reichetzeder
  • Susan M Ring
  • Katherine S Ruth
  • Loreto Santa-Marina
  • Denise M Scholtens
  • Sylvain Sebert
  • Verena Sengpiel
  • Marcus A Tuke
  • Marc Vaudel
  • Michael N Weedon
  • Gonneke Willemsen
  • Andrew R Wood
  • Hanieh Yaghootkar
  • Louis J Muglia
  • Meike Bartels
  • Caroline L Relton
  • Craig E Pennell
  • Leda Chatzi
  • Xavier Estivill
  • John W Holloway
  • Dorret I Boomsma
  • Grant W Montgomery
  • Joanne M Murabito
  • Tim D Spector
  • Christine Power
  • Marjo-Ritta Järvelin
  • Hans Bisgaard
  • Struan F A Grant
  • Thorkild I A Sørensen
  • Vincent W Jaddoe
  • Bo Jacobsson
  • Mads Melbye
  • Mark I McCarthy
  • Andrew T Hattersley
  • M Geoffrey Hayes
  • Timothy M Frayling
  • Marie-France Hivert
  • Janine F Felix
  • Elina Hyppönen
  • William L Lowe
  • David M Evans
  • Debbie A Lawlor
  • Bjarke Feenstra
  • Rachel M Freathy
چکیده

Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 × 10-8. In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

Genome-wide association studies (GWAS) of birth weight have focused on fetal genetics, while relatively little is known about how maternal genetic variation influences fetal growth. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed GWAS data on up to 8.7 million SNPs in up...

متن کامل

How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?

PURPOSE OF REVIEW In observational epidemiology, both low and high birth weights are associated with later type 2 diabetes. The mechanisms underlying the associations are poorly understood. We review evidence for the roles of genetic and non-genetic factors linking both sides of the birth weight distribution to risk of type 2 diabetes, focusing on contributions made by the most recent genome-wi...

متن کامل

P-43: The Association of Birth Weight with Maternal Age, Parity, Sex Neonatal

Background: Fetal growth and birth weight is associated with a lot of factors and specific conditions that can exist or are produced pregnancy. The purpose of this study was assessment of birth weight and its relation to gender, parity and maternal age in Kosar hospital, Qazvin in 2010. Materials and Methods: In this cross sectional study, 3076 women with the normal vaginal delivery (NVD) entre...

متن کامل

Unveiling the genetic loci for a panicle developmental trait using genome-wide association study in rice

Panicle size has a high correlation with grain yield in rice. There is a bottleneck to identify the additional quantitative trait loci (QTL) for panicle size due to the conventional traits used for QTL mapping. To identify more genetic loci for panicle size, a panicle developmental trait (LNTB, the length from panicle neck-knot to the first primary branch in the rachis) related to panicle size ...

متن کامل

Genome-Wide Association Study of Seedling Characteristics in Bread Wheat Cultivars Under Normal and Salt Stress Conditions

In order to identify loci controlling seedling morpho-physiologic characteristics in 88 bread wheat cultivars, a greenhouse experiment based on simple alpha lattice was conducted under both normal and 120 mM (12 ds/m) salt stress condition of the Faculty of Agriculture, Urmia University in 2020-2021 cropping season. Chlorophyll a, b and carotenoid content, proline, plant fresh and dry weight, p...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 27  شماره 

صفحات  -

تاریخ انتشار 2018