Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis

1. Parsons TJ, Power C, Logan S, Summerbell CD. Childhood predictors of adult obesity: a systematic review. International journal of obesity and related metabolic disorders: journal of the International Association for the Study of Obesity. 1999;23 Suppl 8:S1–107.

2. Whincup PH, Kaye SJ, Owen CG, Huxley R, Cook DG, Anazawa S, et al. Birth weight and risk of type 2 diabetes: a systematic review. Jama. 2008;300(24):2886–97. doi: 10.1001/jama.2008.886 19109117

3. Barker DJ, Eriksson JG, Forsen T, Osmond C. Fetal origins of adult disease: strength of effects and biological basis. International journal of epidemiology. 2002;31(6):1235–9. 12540728

4. Loret de Mola C, Araujo de Franca GV, Quevedo LD, Horta BL. Low birth weight, preterm birth and small for gestational age association with adult depression: systematic review and meta-analysis. The British journal of psychiatry: the journal of mental science. 2014;205(5):340–7.

5. Yaghootkar H, Freathy RM. Genetic origins of low birth weight. Current opinion in clinical nutrition and metabolic care. 2012;15(3):258–64. doi: 10.1097/MCO.0b013e328351f543 22406741

6. Lunde A, Melve KK, Gjessing HK, Skjaerven R, Irgens LM. Genetic and environmental influences on birth weight, birth length, head circumference, and gestational age by use of population-based parent-offspring data. American journal of epidemiology. 2007;165(7):734–41. 17311798

7. Dougherty CR, Jones AD. The determinants of birth weight. American journal of obstetrics and gynecology. 1982;144(2):190–200. 7114129

8. Strauss RS. Effects of the intrauterine environment on childhood growth. British medical bulletin. 1997;53(1):81–95. 9158286

9. Rondo PH, Ferreira RF, Nogueira F, Ribeiro MC, Lobert H, Artes R. Maternal psychological stress and distress as predictors of low birth weight, prematurity and intrauterine growth retardation. European journal of clinical nutrition. 2003;57(2):266–72. doi: 10.1038/sj.ejcn.1601526 12571658

10. Clausson B, Lichtenstein P, Cnattingius S. Genetic influence on birthweight and gestational length determined by studies in offspring of twins. BJOG: an international journal of obstetrics and gynaecology. 2000;107(3):375–81.

11. Magnus P, Berg K, Bjerkedal T, Nance WE. Parental determinants of birth weight. Clinical genetics. 1984;26(5):397–405. 6499253

12. Addo OY, Stein AD, Fall CH, Gigante DP, Guntupalli AM, Horta BL, et al. Maternal height and child growth patterns. The Journal of pediatrics. 2013;163(2):549–54. doi: 10.1016/j.jpeds.2013.02.002 23477997

13. Catalano PM, Kirwan JP. Maternal factors that determine neonatal size and body fat. Current diabetes reports. 2001;1(1):71–7. 12762960

14. Han Z, Lutsiv O, Mulla S, McDonald SD. Maternal height and the risk of preterm birth and low birth weight: a systematic review and meta-analyses. Journal of obstetrics and gynaecology Canada: JOGC = Journal d'obstetrique et gynecologie du Canada: JOGC. 2012;34(8):721–46. 22947405

15. Myklestad K, Vatten LJ, Magnussen EB, Salvesen KA, Romundstad PR. Do parental heights influence pregnancy length?: A population-based prospective study, HUNT 2. BMC pregnancy and childbirth. 2013;13:33. doi: 10.1186/1471-2393-13-33 23383756

16. Zhang X, Mumford SL, Cnattingius S, Schisterman EF, Kramer MS. Reduced birthweight in short or primiparous mothers: physiological or pathological? BJOG: an international journal of obstetrics and gynaecology. 2010;117(10):1248–54.

17. Chan BC, Lao TT. Maternal height and length of gestation: does this impact on preterm labour in Asian women? The Australian & New Zealand journal of obstetrics & gynaecology. 2009;49(4):388–92.

18. Morken NH, Kallen K, Jacobsson B. Predicting risk of spontaneous preterm delivery in women with a singleton pregnancy. Paediatric and perinatal epidemiology. 2014;28(1):11–22. doi: 10.1111/ppe.12087 24118026

19. Hindmarsh PC, Geary MP, Rodeck CH, Kingdom JC, Cole TJ. Factors predicting ante- and postnatal growth. Pediatric research. 2008;63(1):99–102. 18043501

20. Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT. Evidence of genetic regulation of fetal longitudinal growth. Early human development. 2005;81(10):823–31. 16085375

21. Nahum GG, Stanislaw H. Relationship of paternal factors to birth weight. The Journal of reproductive medicine. 2003;48(12):963–8. 14738024

22. To WW, Cheung W, Kwok JS. Paternal height and weight as determinants of birth weight in a Chinese population. American journal of perinatology. 1998;15(9):545–8. 9890253

23. Zhang X, Cnattingius S, Platt RW, Joseph KS, Kramer MS. Are babies born to short, primiparous, or thin mothers "normally" or "abnormally" small? The Journal of pediatrics. 2007;150(6):603–7, 7 e1-3. 17517243

24. Subramanian SV, Ackerson LK, Davey Smith G, John NA. Association of maternal height with child mortality, anthropometric failure, and anemia in India. Jama. 2009;301(16):1691–701. doi: 10.1001/jama.2009.548 19383960

25. Ozaltin E, Hill K, Subramanian SV. Association of maternal stature with offspring mortality, underweight, and stunting in low- to middle-income countries. Jama. 2010;303(15):1507–16. doi: 10.1001/jama.2010.450 20407060

26. Smith GD. Assessing intrauterine influences on offspring health outcomes: can epidemiological studies yield robust findings? Basic & clinical pharmacology & toxicology. 2008;102(2):245–56.

27. Paternoster L, Howe LD, Tilling K, Weedon MN, Freathy RM, Frayling TM, et al. Adult height variants affect birth length and growth rate in children. Human molecular genetics. 2011;20(20):4069–75. doi: 10.1093/hmg/ddr309 21757498

28. Wilcox MA, Newton CS, Johnson IR. Paternal influences on birthweight. Acta obstetricia et gynecologica Scandinavica. 1995;74(1):15–8. 7856427

29. Brooks AA, Johnson MR, Steer PJ, Pawson ME, Abdalla HI. Birth weight: nature or nurture? Early human development. 1995;42(1):29–35. 7671843

30. Spencer NJ, Logan S. The treatment of parental height as a biological factor in studies of birth weight and childhood growth. Archives of disease in childhood. 2002;87(3):184–7. 12193422

31. Lawlor DA, Smith GD, O'Callaghan M, Alati R, Mamun AA, Williams GM, et al. Epidemiologic evidence for the fetal overnutrition hypothesis: findings from the mater-university study of pregnancy and its outcomes. American journal of epidemiology. 2007;165(4):418–24. 17158475

32. Smith GD, Steer C, Leary S, Ness A. Is there an intrauterine influence on obesity? Evidence from parent child associations in the Avon Longitudinal Study of Parents and Children (ALSPAC). Archives of disease in childhood. 2007;92(10):876–80. 17595200

33. Eaves LJ, Pourcain BS, Smith GD, York TP, Evans DM. Resolving the effects of maternal and offspring genotype on dyadic outcomes in genome wide complex trait analysis ("M-GCTA"). Behav Genet. 2014;44(5):445–55. doi: 10.1007/s10519-014-9666-6 25060210

34. Smith GD, Hemani G. Mendelian randomization: genetic anchors for causal inference in epidemiological studies. Human molecular genetics. 2014;23(R1):R89–98. doi: 10.1093/hmg/ddu328 25064373

35. Smith GD, Ebrahim S. 'Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? International journal of epidemiology. 2003;32(1):1–22. 12689998

36. Smith GD, Leary S, Ness A, Lawlor DA. Challenges and novel approaches in the epidemiological study of early life influences on later disease. Advances in experimental medicine and biology. 2009;646:1–14. doi: 10.1007/978-1-4020-9173-5_1 19536658

37. Didelez V, Sheehan N. Mendelian randomization as an instrumental variable approach to causal inference. Statistical methods in medical research. 2007;16(4):309–30. 17715159

38. Solovieff N, Cotsapas C, Lee PH, Purcell SM, Smoller JW. Pleiotropy in complex traits: challenges and strategies. Nature reviews Genetics. 2013;14(7):483–95. doi: 10.1038/nrg3461 23752797

39. Pierce BL, Ahsan H, Vanderweele TJ. Power and instrument strength requirements for Mendelian randomization studies using multiple genetic variants. International journal of epidemiology. 2011;40(3):740–52. doi: 10.1093/ije/dyq151 20813862

40. Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nature genetics. 2014;46(11):1173–86. doi: 10.1038/ng.3097 25282103

41. Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010;467(7317):832–8. doi: 10.1038/nature09410 20881960

42. Freeman G, Cowling BJ, Schooling CM. Power and sample size calculations for Mendelian randomization studies using one genetic instrument. International journal of epidemiology. 2013;42(4):1157–63. doi: 10.1093/ije/dyt110 23934314

43. Evans DM, Brion MJ, Paternoster L, Kemp JP, McMahon G, Munafo M, et al. Mining the human phenome using allelic scores that index biological intermediates. PLoS genetics. 2013;9(10):e1003919. doi: 10.1371/journal.pgen.1003919 24204319

44. Palmer TM, Lawlor DA, Harbord RM, Sheehan NA, Tobias JH, Timpson NJ, et al. Using multiple genetic variants as instrumental variables for modifiable risk factors. Statistical methods in medical research. 2012;21(3):223–42. doi: 10.1177/0962280210394459 21216802

45. Burgess S, Thompson SG. Use of allele scores as instrumental variables for Mendelian randomization. International journal of epidemiology. 2013;42(4):1134–44. doi: 10.1093/ije/dyt093 24062299

46. Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, et al. Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS medicine. 2008;5(3):e33. doi: 10.1371/journal.pmed.0050033 18336062

47. Plunkett J, Doniger S, Orabona G, Morgan T, Haataja R, Hallman M, et al. An evolutionary genomic approach to identify genes involved in human birth timing. PLoS genetics. 2011;7(4):e1001365. doi: 10.1371/journal.pgen.1001365 21533219

48. Myking S, Boyd HA, Myhre R, Feenstra B, Jugessur A, Devold Pay AS, et al. X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study. PLoS One. 2013;8(4):e61781. doi: 10.1371/journal.pone.0061781 23613933

49. Olsen J, Melbye M, Olsen SF, Sorensen TI, Aaby P, Andersen AM, et al. The Danish National Birth Cohort—its background, structure and aim. Scandinavian journal of public health. 2001;29(4):300–7. 11775787

50. Carvalho B, Bengtsson H, Speed TP, Irizarry RA. Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data. Biostatistics. 2007;8(2):485–99. 17189563

51. Scharpf RB, Irizarry RA, Ritchie ME, Carvalho B, Ruczinski I. Using the R Package crlmm for Genotyping and Copy Number Estimation. Journal of statistical software. 2011;40(12):1–32. 22523482

52. Genomes Project C, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56–65. doi: 10.1038/nature11632 23128226

53. Delaneau O, Marchini J, Zagury JF. A linear complexity phasing method for thousands of genomes. Nature methods. 2012;9(2):179–81.

54. Fuchsberger C, Abecasis GR, Hinds DA. minimac2: faster genotype imputation. Bioinformatics. 2015;31(5):782–4. doi: 10.1093/bioinformatics/btu704 25338720

55. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS genetics. 2009;5(6):e1000529. doi: 10.1371/journal.pgen.1000529 19543373

56. Yang J, Ferreira T, Morris AP, Medland SE, Genetic Investigation of ATC, Replication DIG, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature genetics. 2012;44(4):369–75, S1-3. doi: 10.1038/ng.2213 22426310

57. Palmer TM, Sterne JA, Harbord RM, Lawlor DA, Sheehan NA, Meng S, et al. Instrumental variable estimation of causal risk ratios and causal odds ratios in Mendelian randomization analyses. American journal of epidemiology. 2011;173(12):1392–403. doi: 10.1093/aje/kwr026 21555716

58. Barker DJ. The origins of the developmental origins theory. J Intern Med. 2007;261(5):412–7. 17444880

59. Jarvelin MR, Sovio U, King V, Lauren L, Xu B, McCarthy MI, et al. Early life factors and blood pressure at age 31 years in the 1966 northern Finland birth cohort. Hypertension. 2004;44(6):838–46. 15520301

60. Sipola-Leppanen M, Vaarasmaki M, Tikanmaki M, Matinolli HM, Miettola S, Hovi P, et al. Cardiometabolic risk factors in young adults who were born preterm. American journal of epidemiology. 2015;181(11):861–73. doi: 10.1093/aje/kwu443 25947956

61. Villar J, Papageorghiou AT, Pang R, Ohuma EO, Cheikh Ismail L, Barros FC, et al. The likeness of fetal growth and newborn size across non-isolated populations in the INTERGROWTH-21st Project: the Fetal Growth Longitudinal Study and Newborn Cross-Sectional Study. Lancet Diabetes Endocrinol. 2014;2(10):781–92. doi: 10.1016/S2213-8587(14)70121-4 25009082

62. Zhang G, Karns R, Sun G, Indugula SR, Cheng H, Havas-Augustin D, et al. Finding missing heritability in less significant Loci and allelic heterogeneity: genetic variation in human height. PLoS One. 2012;7(12):e51211. doi: 10.1371/journal.pone.0051211 23251454

63. Zhang G, Karns R, Sun G, Indugula SR, Cheng H, Havas-Augustin D, et al. Extent of height variability explained by known height-associated genetic variants in an isolated population of the Adriatic coast of Croatia. PLoS One. 2011;6(12):e29475. doi: 10.1371/journal.pone.0029475 22216288

64. Griffiths LJ, Dezateux C, Cole TJ. Differential parental weight and height contributions to offspring birthweight and weight gain in infancy. International journal of epidemiology. 2007;36(1):104–7. 16984935

65. Lawson HA, Cheverud JM, Wolf JB. Genomic imprinting and parent-of-origin effects on complex traits. Nature reviews Genetics. 2013;14(9):609–17. doi: 10.1038/nrg3543 23917626

66. Glymour MM, Tchetgen Tchetgen EJ, Robins JM. Credible Mendelian randomization studies: approaches for evaluating the instrumental variable assumptions. American journal of epidemiology. 2012;175(4):332–9. doi: 10.1093/aje/kwr323 22247045

67. Box GEP. Non-Normality and Tests on Variances. Biometrika. 1953;40(3/4):318–35.