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Review Article

Genetic contributions to preterm birth: Implications from epidemiological and genetic association studies

& , PhD , MD
Pages 167-179 | Published online: 08 Jul 2009

References

  • Hamilton B. E., Minino A. M., Martin J. A., Kochanek K. D., Strobino D. M., Guyer B. Annual summary of vital statistics: 2005. Pediatrics 2007; 119: 345–60
  • Esplin M. S. Preterm birth: a review of genetic factors and future directions for genetic study. Obstet Gynecol Surv 2006; 61: 800–6
  • Green N. S., Damus K., Simpson J. L., Iams J., Reece E. A., Hobel C. J., et al. Research agenda for preterm birth: recommendations from the March of Dimes. Am J Obstet Gynecol 2005; 193: 626–35
  • Goldenberg R. L., Goepfert A. R., Ramsey P. S. Biochemical markers for the prediction of preterm birth. Am J Obstet Gynecol 2005; 192((5 Suppl))S36–46
  • Adams M. M., Elam‐Evans L. D., Wilson H. G., Gilbertz D. A. Rates of and factors associated with recurrence of preterm delivery. JAMA 2000; 283: 1591–6
  • Basso O., Olsen J., Christensen K. Study of environmental, social, and paternal factors in preterm delivery using sibs and half sibs. A population‐based study in Denmark. J Epidemiol Community Health 1999; 53: 20–3
  • Kistka Z. A., Palomar L., Boslaugh S. E., DeBaun M. R., DeFranco E. A., Muglia L. J. Risk for postterm delivery after previous postterm delivery. Am J Obstet Gynecol 2007; 196: 241.e1–6
  • Kistka Z. A., Palomar L., Lee K. A., Boslaugh S. E., Wangler M. F., Cole F. S., et al. Racial disparity in the frequency of recurrence of preterm birth. Am J Obstet Gynecol 2007; 196: 131.e1–6
  • Mercer B. M., Goldenberg R. L., Moawad A. H., Meis P. J., Iams J. D., Das A. F., et al. The preterm prediction study: effect of gestational age and cause of preterm birth on subsequent obstetric outcome. National Institute of Child Health and Human Development Maternal‐Fetal Medicine Units Network. Am J Obstet Gynecol 1999; 181: 1216–21
  • Winkvist A., Mogren I., Hogberg U. Familial patterns in birth characteristics: impact on individual and population risks. Int J Epidemiol 1998; 27: 248–54
  • Bloom S. L., Yost N. P., McIntire D. D., Leveno K. J. Recurrence of preterm birth in singleton and twin pregnancies. Obstet Gynecol 2001; 98: 379–85
  • Melve K. K., Skjaerven R., Gjessing H. K., Oyen N. Recurrence of gestational age in sibships: implications for perinatal mortality. Am J Epidemiol 1999; 150: 756–62
  • Porter T. F., Fraser A. M., Hunter C. Y., Ward R. H., Varner M. W. The risk of preterm birth across generations. Obstet Gynecol 1997; 90: 63–7
  • Clausson B., Lichtenstein P., Cnattingius S. Genetic influence on birthweight and gestational length determined by studies in offspring of twins. BJOG 2000; 107: 375–81
  • Treloar S. A., Macones G. A., Mitchell L. E., Martin N. G. Genetic influences on premature parturition in an Australian twin sample. Twin Res 2000; 3: 80–2
  • Lunde A., Melve K. K., Gjessing H. K., Skjaerven R., Irgens L. M. Genetic and environmental influences on birth weight, birth length, head circumference, and gestational age by use of population‐based parent‐offspring data. Am J Epidemiol 2007; 165: 734–41
  • Ward K., Argyle V., Meade M., Nelson L. The heritability of preterm delivery. Obstet Gynecol 2005; 106: 1235–9
  • Volkov N., Nisenblat V., Ohel G., Gonen R. Ehlers‐Danlos syndrome: insights on obstetric aspects. Obstet Gynecol Surv 2007; 62: 51–7
  • Palomar L., DeFranco E. A., Lee K. A., Allsworth J. E., Muglia L. J. Paternal race is a risk factor for preterm birth. Am J Obstet Gynecol 2007; 197: 152.e1–7
  • Goldenberg R. L., Cliver S. P., Mulvihill F. X., Hickey C. A., Hoffman H. J., Klerman L. V., et al. Medical, psychosocial, and behavioral risk factors do not explain the increased risk for low birth weight among black women. Am J Obstet Gynecol 1996; 175: 1317–24
  • Bamshad M. Genetic influences on health: does race matter?. JAMA 2005; 294: 937–46
  • Allocco D. J., Song Q., Gibbons G. H., Ramoni M. F., Kohane I. S. Geography and genography: prediction of continental origin using randomly selected single nucleotide polymorphisms. BMC Genomics 2007; 8: 68
  • David R., Collins J Jr. Disparities in Infant Mortality: What's Genetics Got to Do With It?. Am J Public Health 2007; 97: 1191–7
  • Spielman R. S., Bastone L. A., Burdick J. T., Morley M., Ewens W. J., Cheung V. G. Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet 2007; 39: 226–31
  • Tan H., Wen S. W., Walker M., Demissie K. Parental race, birth weight, gestational age, and fetal growth among twin infants in the United States. Early Hum Dev 2004; 80: 153–60
  • Joober R., Sengupta S., Boksa P. Genetics of developmental psychiatric disorders: pathways to discovery. J Psychiatry Neurosci 2005; 30: 349–54
  • Caspi A., Sugden K., Moffitt T. E., Taylor A., Craig I. W., Harrington H., et al. Influence of life stress on depression: moderation by a polymorphism in the 5‐HTT gene. Science 2003; 301: 386–9
  • Williams S. M., Ritchie M. D., Phillips J. A 3rd., Dawson E., Prince M., Dzhura E., et al. Multilocus Analysis of Hypertension: A Hierarchical Approach. Hum Hered 2004; 57: 28–38
  • Kalish R. B., Vardhana S., Normand N. J., Gupta M., Witkin S. S. Association of a maternal CD14‐159 gene polymorphism with preterm premature rupture of membranes and spontaneous preterm birth in multi‐fetal pregnancies. J Reprod Immunol 2006; 70: 109–17
  • Menon R., Velez D. R., Simhan H., Ryckman K., Jiang L., Thorsen P., et al. Multilocus interactions at maternal tumor necrosis factor‐alpha, tumor necrosis factor receptors, interleukin‐6 and interleukin‐6 receptor genes predict spontaneous preterm labor in European‐American women. Am J Obstet Gynecol 2006; 194: 1616–24
  • Engel S. A., Erichsen H. C., Savitz D. A., Thorp J., Chanock S. J., Olshan A. F. Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms. Epidemiology 2005; 16: 469–77
  • Macones G. A., Parry S., Elkousy M., Clothier B., Ural S. H., Strauss J. F 3rd. A polymorphism in the promoter region of TNF and bacterial vaginosis: preliminary evidence of gene‐environment interaction in the etiology of spontaneous preterm birth. Am J Obstet Gynecol 2004; 190: 1504–8
  • Velez D. R., Menon R., Thorsen P., Jiang L., Simhan H., Morgan N., et al. Ethnic differences in interleukin 6 (IL‐6) and IL6 receptor genes in spontaneous preterm birth and effects on amniotic fluid protein levels. Ann Hum Genet 2007; 71: 586–600
  • DeFranco E., Teramo K., Muglia L. Genetic influences on preterm birth. Semin Reprod Med 2007; 25: 40–51
  • Smith R. Parturition. N Engl J Med 2007; 356: 271–83
  • Leitich H., Bodner‐Adler B., Brunbauer M., Kaider A., Egarter C., Husslein P. Bacterial vaginosis as a risk factor for preterm delivery: a meta‐analysis. Am J Obstet Gynecol 2003; 189: 139–47
  • Khader Y. S., Ta'ani Q. Periodontal diseases and the risk of preterm birth and low birth weight: a meta‐analysis. J Periodontol 2005; 76: 161–5
  • Carey J. C., Klebanoff M. A., Hauth J. C., Hillier S. L., Thom E. A., Ernest J. M., et al. Metronidazole to Prevent Preterm Delivery in Pregnant Women with Asymptomatic Bacterial Vaginosis. N Engl J Med 2000; 342: 534–40
  • Lamont R. F. Can antibiotics prevent preterm birth; the pro and con debate. BJOG 2005; 112(suppl 1)67–73
  • McDonald H., Brocklehurst P., Parsons J. Antibiotics for treating bacterial vaginosis in pregnancy. Cochrane Database Syst Rev 2005, CD000262
  • Keelan J. A., Blumenstein M., Helliwell R. J., Sato T. A., Marvin K. W., Mitchell M. D. Cytokines, prostaglandins and parturition—a review. Placenta 2003; 24: S33–46
  • Moore S., Ide M., Randhawa M., Walker J. J., Reid J. G., Simpson N. A. An investigation into the association among preterm birth, cytokine gene polymorphisms and periodontal disease. BJOG 2004; 111: 125–32
  • Amory J. H., Adams K. M., Lin M. T., Hansen J. A., Eschenbach D. A., Hitti J. Adverse outcomes after preterm labor are associated with tumor necrosis factor‐alpha polymorphism −863, but not −308, in mother‐infant pairs. Am J Obstet Gynecol 2004; 191: 1362–7
  • Dizon‐Townson D. S., Major H., Varner M., Ward K. A promoter mutation that increases transcription of the tumor necrosis factor‐alpha gene is not associated with preterm delivery. Am J Obstet Gynecol 1997; 177: 810–3
  • Menon R., Velez D. R., Thorsen P., Vogel I., Jacobsson B., Williams S. M., et al. Ethnic differences in key candidate genes for spontaneous preterm birth: TNF‐alpha and its receptors. Hum Hered 2006; 62: 107–18
  • Menon R., Merialdi M., Betran A. P., Dolan S., Jiang L., Fortunato S. J., et al. Analysis of association between maternal tumor necrosis factor‐alpha promoter polymorphism (−308), tumor necrosis factor concentration, and preterm birth. Am J Obstet Gynecol 2006; 195: 1240–8
  • Roberts A. K., Monzon‐Bordonaba F., Van Deerlin P. G., Holder J., Macones G. A., Morgan M. A., et al. Association of polymorphism within the promoter of the tumor necrosis factor alpha gene with increased risk of preterm premature rupture of the fetal membranes. Am J Obstet Gynecol 1999; 180: 1297–302
  • Aidoo M., McElroy P. D., Kolczak M. S., Terlouw D. J., ter Kuile F. O., Nahlen B., et al. Tumor necrosis factor‐alpha promoter variant 2 (TNF2) is associated with pre‐term delivery, infant mortality, and malaria morbidity in western Kenya: Asembo Bay Cohort Project IX. Genet Epidemiol 2001; 21: 201–11
  • Chen D., Hu Y., Wu B., Chen L., Fang Z., Yang F., et al. Tumor necrosis factor‐alpha gene G308A polymorphism is associated with the risk of preterm delivery. Beijing Da Xue Xue Bao 2003; 35: 377–81
  • Annells M. F., Hart P. H., Mullighan C. G., Heatley S. L., Robinson J. S., Bardy P., et al. Interleukins−1, −4, −6, −10, tumor necrosis factor, transforming growth factor‐beta, FAS, and mannose‐binding protein C gene polymorphisms in Australian women: Risk of preterm birth. Am J Obstet Gynecol 2004; 191: 2056–67
  • Hao K., Wang X., Niu T., Xu X., Li A., Chang W., et al. A candidate gene association study on preterm delivery: application of high‐throughput genotyping technology and advanced statistical methods. Hum Mol Genet 2004; 13: 683–91
  • Gibson C. S., MacLennan A. H., Dekker G. A., Goldwater P. N., Dambrosia J. M., Munroe D. J., et al. Genetic Polymorphisms and Spontaneous Preterm Birth. Obstet Gynecol 2007; 109: 384–91
  • Kalish R. B., Vardhana S., Gupta M., Perni S. C., Witkin S. S. Interleukin‐4 and ‐10 gene polymorphisms and spontaneous preterm birth in multifetal gestations. Am J Obstet Gynecol 2004; 190: 702–6
  • Hartel C., Finas D., Ahrens P., Kattner E., Schaible T., Muller D., et al. Polymorphisms of genes involved in innate immunity: association with preterm delivery. Mol Hum Reprod 2004; 10: 911–5
  • Simhan H. N., Krohn M. A., Roberts J. M., Zeevi A., Caritis S. N. Interleukin‐6 promoter −174 polymorphism and spontaneous preterm birth. Am J Obstet Gynecol 2003; 189: 915–8
  • Murtha A. P., Nieves A., Hauser E. R., Swamy G. K., Yonish B. A., Sinclair T. R., et al. Association of maternal IL‐1 receptor antagonist intron 2 gene polymorphism and preterm birth. Am J Obstet Gynecol 2006; 195: 1249–53
  • Witkin S. S., Vardhana S., Yih M., Doh K., Bongiovanni A. M., Gerber S. Polymorphism in intron 2 of the fetal interleukin‐1 receptor antagonist genotype influences midtrimester amniotic fluid concentrations of interleukin‐1beta and interleukin‐1 receptor antagonist and pregnancy outcome. Am J Obstet Gynecol 2003; 189: 1413–7
  • Genc M. R., Onderdonk A. B., Vardhana S., Delaney M. L., Norwitz E. R., Tuomala R. E., et al. Polymorphism in intron 2 of the interleukin‐1 receptor antagonist gene, local midtrimester cytokine response to vaginal flora, and subsequent preterm birth. Am J Obstet Gynecol 2004; 191: 1324–30
  • Bodamer O. A., Mitterer G., Maurer W., Pollak A., Mueller M. W., Schmidt W. M. Evidence for an association between mannose‐binding lectin 2 (MBL2) gene polymorphisms and pre‐term birth. Genet Med 2006; 8: 518–24
  • Kalish R. B., Nguyen D. P., Vardhana S., Gupta M., Perni S. C., Witkin S. S. A single nucleotide A>G polymorphism at position −670 in the Fas gene promoter: relationship to preterm premature rupture of fetal membranes in multifetal pregnancies. Am J Obstet Gynecol 2005; 192: 208–12
  • Krediet T. G., Wiertsema S. P., Vossers M. J., Hoeks S. B., Fleer A., Ruven H. J., et al. Toll‐like Receptor 2 Polymorphism Is Associated With Preterm Birth. Pediatr Res 2007; 62: 474–6
  • Lorenz E., Hallman M., Marttila R., Haataja R., Schwartz D. A. Association between the Asp299Gly polymorphisms in the Toll‐like receptor 4 and premature births in the Finnish population. Pediatr Res 2002; 52: 373–6
  • Ferrand P. E., Fujimoto T., Chennathukuzhi V., Parry S., Macones G. A., Sammel M., et al. The CARD15 2936insC mutation and TLR4 896 A>G polymorphism in African Americans and risk of preterm premature rupture of membranes (PPROM). Mol Hum Reprod 2002; 8: 1031–4
  • Fujimoto T., Parry S., Urbanek M., Sammel M., Macones G., Kuivaniemi H., et al. A single nucleotide polymorphism in the matrix metalloproteinase‐1 (MMP‐1) promoter influences amnion cell MMP‐1 expression and risk for preterm premature rupture of the fetal membranes. J Biol Chem 2002; 277: 6296–302
  • Ferrand P. E., Parry S., Sammel M., Macones G. A., Kuivaniemi H., Romero R., et al. A polymorphism in the matrix metalloproteinase‐9 promoter is associated with increased risk of preterm premature rupture of membranes in African Americans. Mol Hum Reprod 2002; 8: 494–501
  • Wang H., Parry S., Macones G., Sammel M. D., Kuivaniemi H., Tromp G., et al. A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans. Proc Natl Acad Sci U S A 2006; 103: 13463–7
  • Erichsen H. C., Engel S. A., Eck P. K., Welch R., Yeager M., Levine M., et al. Genetic variation in the sodium‐dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery. Am J Epidemiol 2006; 163: 245–54
  • Doh K., Sziller I., Vardhana S., Kovacs E., Papp Z., Witkin S. S. Beta2‐adrenergic receptor gene polymorphisms and pregnancy outcome. J Perinat Med 2004; 32: 413–7
  • Landau R., Xie H. G., Dishy V., Stein C. M., Wood A. J., Emala C. W., et al. beta2‐Adrenergic receptor genotype and preterm delivery. Am J Obstet Gynecol 2002; 187: 1294–8
  • Papazoglou D., Galazios G., Koukourakis M. I., Kontomanolis E. N., Maltezos E. Association of −634G/C and 936C/T polymorphisms of the vascular endothelial growth factor with spontaneous preterm delivery. Acta Obstet Gynecol Scand 2004; 83: 461–5
  • Hartel C., von Otte S., Koch J., Ahrens P., Kattner E., Segerer H., et al. Polymorphisms of haemostasis genes as risk factors for preterm delivery. Thromb Haemost 2005; 94: 88–92
  • Lawlor D. A., Gaunt T. R., Hinks L. J., Davey Smith G., Timpson N., Day I. N., et al. The association of the PON1 Q192R polymorphism with complications and outcomes of pregnancy: findings from the British Women's Heart and Health cohort study. Paediatr Perinat Epidemiol 2006; 20: 244–50
  • Chen D., Hu Y., Chen C., Yang F., Fang Z., Wang L., et al. Polymorphisms of the paraoxonase gene and risk of preterm delivery. Epidemiology 2004; 1: 466–70
  • Nukui T., Day R. D., Sims C. S., Ness R. B., Romkes M. Maternal/newborn GSTT1 null genotype contributes to risk of preterm, low birthweight infants. Pharmacogenetics 2004; 14: 569–76
  • Challis J. R. G., Brooks A. N. Maturation and activation of hypothalamic‐pituitary‐adrenal function in fetal sheep. Endocr Rev 1989; 10: 182–204
  • Challis J. R. G., Lye S. J. Parturition. The Physiology of Reproduction, E Knobil, J. D Neill. Raven Press, Ltd., New York 1994; 985–1031
  • Frim D. F., Emanuel R. L., Robinson B. G., Smas C. F., Adler G. K., Majzoub J. A. Characterization and gestational regulation of preprocorticotropin releasing hormone messenger RNA in human placenta. J Clin Invest 1988; 82: 287–92
  • Majzoub J. A., McGregor J. A., Lockwood C. J., Smith R., Taggart M. S., Schulkin J. A central theory of preterm and term labor: putative role for corticotropin‐releasing hormone. Am J Obstet Gynecol 1999; 180: S232–41
  • McLean M., Bisits A., Davies J., Woods R., Lowry P., Smith R. A placental clock controlling the length of human pregnancy. Nat Med 1995; 1: 460–3
  • Engel S. M., Olshan A. F., Siega‐Riz A. M., Savitz D. A., Chanock S. J. Polymorphisms in folate metabolizing genes and risk for spontaneous preterm and small‐for‐gestational age birth. Am J Obstet Gynecol 2006; 195: 1231.e1–11
  • Lauszus F. F., Gron P. L., Klebe J. G. Association of polymorphism of methylene‐tetrahydro‐folate‐reductase with urinary albumin excretion rate in type 1 diabetes mellitus but not with preeclampsia, retinopathy, and preterm delivery. Acta Obstet Gynecol Scand 2001; 80: 803–6
  • Meirhaeghe A., Boreham C. A., Murray L. J., Richard F., Davey Smith G., Young I. S., et al. A possible role for the PPARG Pro12Ala polymorphism in preterm birth. Diabetes 2007; 56: 494–8
  • Duggirala R., Blangero J., Almasy L., Dyer T. D., Williams K. L., Leach R. J., et al. Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans. Am J Hum Genet 1999; 64: 1127–40
  • Grant S. F., Thorleifsson G., Reynisdottir I., Benediktsson R., Manolescu A., Sainz J., et al. Variant of transcription factor 7‐like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet 2006; 38: 320–3
  • Cauchi S., El Achhab Y., Choquet H., Dina C., Krempler F., Weitgasser R., et al. TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta‐analysis. J Mol Med 2007; 85: 777–82
  • Freathy R. M., Weedon M. N., Bennett A., Hypponen E., Relton C. L., Knight B., et al. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet 2007; 80: 1150–61
  • Richard I., Beckmann J. S. How neutral are synonymous codon mutations?. Nat Genet 1995; 10: 259
  • Takahara K., Schwarze U., Imamura Y., Hoffman G. G., Toriello H., Smith L. T., et al. Order of intron removal influences multiple splice outcomes, including a two‐exon skip, in a COL5A1 acceptor‐site mutation that results in abnormal pro‐alpha1(V) N‐propeptides and Ehlers‐Danlos syndrome type I. Am J Hum Genet 2002; 71: 451–65
  • Abelson J. F., Kwan K. Y., O'Roak B. J., Baek D. Y., Stillman A. A., Morgan T. M., et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005; 310: 317–20
  • Purcell S., Cherny S. S., Sham P. C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149–50

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