Genomics of Preterm Birth—Evidence of Association and Evolving Investigations

Jessica A. McPherson; Tracy A. Manuck

doi:10.1055/s-0035-1571144

American Journal of Perinatology, Inhaltsverzeichnis

Am J Perinatol 2016; 33(03): 222-228
DOI: 10.1055/s-0035-1571144

Prematurity Special Issue

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Genomics of Preterm Birth—Evidence of Association and Evolving Investigations

Jessica A. McPherson

¹Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina

,

Tracy A. Manuck

¹Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina

²Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah

› Institutsangaben

Abstract

Preterm birth (PTB) is a large public health problem in the United States and worldwide. There is a clear genetic component to the pathogenesis of PTB, as evidenced by twin studies, heritability studies, and investigations from large population databases. Although numerous single nucleotide polymorphisms have been associated with PTB, results have been inconsistent and overall disappointing. With recent advances in genetic technology, investigations are moving beyond simple, more traditional candidate gene studies, and have expanded to encompass more exploratory analyses using high-throughput genetic techniques. Care should be taken to consider the potential impact of fetal genotype, the environment, and gene–drug interactions (pharmacogenomics) in addition to maternal genotype. Future research should capitalize on evolving analytic techniques, including pathway analyses and correlation of genetic and functional data to optimize discovery, increase knowledge regarding prematurity pathogenesis, and begin to develop novel therapeutic strategies.

Keywords

preterm birth - genetics - phenotype - fetal genotype - maternal genotype - heritability

Volltext

Referenzen

References
1 Blencowe H, Cousens S, Chou D , et al; Born Too Soon Preterm Birth Action Group. Born too soon: the global epidemiology of 15 million preterm births. Reprod Health 2013; 10 (Suppl. 01) S2
2 Blencowe H, Cousens S, Oestergaard MZ , et al. National, regional, and worldwide estimates of preterm birth rates in the year 2010 with time trends since 1990 for selected countries: a systematic analysis and implications. Lancet 2012; 379 (9832) 2162-2172
3 Martin JA, Hamilton BE, Osterman MJ. Births in the United States, 2014. NCHS Data Brief 2015; (216) 1-8
4 Serenius F, Källén K, Blennow M , et al; EXPRESS Group. Neurodevelopmental outcome in extremely preterm infants at 2.5 years after active perinatal care in Sweden. JAMA 2013; 309 (17) 1810-1820
5 Moore T, Hennessy EM, Myles J , et al. Neurological and developmental outcome in extremely preterm children born in England in 1995 and 2006: the EPICure studies. BMJ 2012; 345: e7961
6 Pyhälä R, Hovi P, Lahti M , et al. Very low birth weight, infant growth, and autism-spectrum traits in adulthood. Pediatrics 2014; 134 (6) 1075-1083
7 Sammallahti S, Pyhälä R, Lahti M , et al. Infant growth after preterm birth and neurocognitive abilities in young adulthood. J Pediatr 2014; 165 (6) 1109-1115.e3
8 Schmitt SK, Sneed L, Phibbs CS. Costs of newborn care in California: a population-based study. Pediatrics 2006; 117 (1) 154-160
9 Phibbs CS, Schmitt SK. Estimates of the cost and length of stay changes that can be attributed to one-week increases in gestational age for premature infants. Early Hum Dev 2006; 82 (2) 85-95
10 Johnson TJ, Patel AL, Jegier BJ, Engstrom JL, Meier PP. Cost of morbidities in very low birth weight infants. J Pediatr 2013; 162 (2) 243-49.e1
11 Gilbert WM, Nesbitt TS, Danielsen B. The cost of prematurity: quantification by gestational age and birth weight. Obstet Gynecol 2003; 102 (3) 488-492
12 Clements KM, Barfield WD, Ayadi MF, Wilber N. Preterm birth-associated cost of early intervention services: an analysis by gestational age. Pediatrics 2007; 119 (4) e866-e874
13 Ananth CV, Getahun D, Peltier MR, Salihu HM, Vintzileos AM. Recurrence of spontaneous versus medically indicated preterm birth. Am J Obstet Gynecol 2006; 195 (3) 643-650
14 Kim CJ, Romero R, Chaemsaithong P, Kim JS. Chronic inflammation of the placenta: definition, classification, pathogenesis, and clinical significance. Am J Obstet Gynecol 2015; 213 (4, Suppl): S53-S69
15 Morgan TK, Tolosa JE, Mele L , et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network. Placental villous hypermaturation is associated with idiopathic preterm birth. J Matern Fetal Neonatal Med 2013; 26 (7) 647-653
16 Bloom SL, Yost NP, McIntire DD, Leveno KJ. Recurrence of preterm birth in singleton and twin pregnancies. Obstet Gynecol 2001; 98 (3) 379-385
17 Esplin MS, O'Brien E, Fraser A , et al. Estimating recurrence of spontaneous preterm delivery. Obstet Gynecol 2008; 112 (3) 516-523
18 Manuck TA, Lai Y, Meis PJ , et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Maternal-Fetal Medicine Units Network (MFMU). Admixture mapping to identify spontaneous preterm birth susceptibility loci in African Americans. Obstet Gynecol 2011; 117 (5) 1078-1084
19 Anum EA, Springel EH, Shriver MD, Strauss III JF. Genetic contributions to disparities in preterm birth. Pediatr Res 2009; 65 (1) 1-9
20 Menon R, Pearce B, Velez DR , et al. Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants. Reprod Biol Endocrinol 2009; 7: 62
21 Goldenberg RL, Cliver SP, Mulvihill FX , 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 (5) 1317-1324
22 Palomar L, DeFranco EA, Lee KA, Allsworth JE, Muglia LJ. Paternal race is a risk factor for preterm birth. Am J Obstet Gynecol 2007; 197 (2) 152.e1-152.e7
23 Simhan HN, Krohn MA. Paternal race and preterm birth. Am J Obstet Gynecol 2008; 198 (6) 644.e1-644.e6
24 Manuck TA, Esplin MS, Biggio J , et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development Genomics and Proteomics Network for Preterm Birth Research. The phenotype of spontaneous preterm birth: application of a clinical phenotyping tool. Am J Obstet Gynecol 2015; 212 (4) 487.e1-487.e11
25 Menon R, Thorsen P, Vogel I , et al. Racial disparity in amniotic fluid concentrations of tumor necrosis factor (TNF)-alpha and soluble TNF receptors in spontaneous preterm birth. Am J Obstet Gynecol 2008; 198 (5) 533.e1-533.e10
26 Brou L, Almli LM, Pearce BD , et al. Dysregulated biomarkers induce distinct pathways in preterm birth. BJOG 2012; 119 (4) 458-473
27 Menon R, Williams SM, Fortunato SJ. Amniotic fluid interleukin-1beta and interleukin-8 concentrations: racial disparity in preterm birth. Reprod Sci 2007; 14 (3) 253-259
28 Kistka ZA, Palomar L, Lee KA , et al. Racial disparity in the frequency of recurrence of preterm birth. Am J Obstet Gynecol 2007; 196 (2) 131.e1-131.e6
29 Winkvist A, Mogren I, Högberg U. Familial patterns in birth characteristics: impact on individual and population risks. Int J Epidemiol 1998; 27 (2) 248-254
30 Clausson B, Lichtenstein P, Cnattingius S. Genetic influence on birthweight and gestational length determined by studies in offspring of twins. BJOG 2000; 107 (3) 375-381
31 Treloar SA, Macones GA, Mitchell LE, Martin NG. Genetic influences on premature parturition in an Australian twin sample. Twin Res 2000; 3 (2) 80-82
32 Kistka ZA, DeFranco EA, Ligthart L , et al. Heritability of parturition timing: an extended twin design analysis. Am J Obstet Gynecol 2008; 199 (1) 43.e1-43.e5
33 Porter TF, Fraser AM, Hunter CY, Ward RH, Varner MW. The risk of preterm birth across generations. Obstet Gynecol 1997; 90 (1) 63-67
34 Bladh M, Josefsson A, Carstensen J, Finnström O, Sydsjö G. Intergenerational cohort study of preterm and small-for-gestational-age birth in twins and singletons. Twin Res Hum Genet 2015; 18 (5) 581-590
35 Wu W, Witherspoon DJ, Fraser A , et al. The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth. Hum Genet 2015; 134 (7) 803-808
36 Zhu M, Zhao S. Candidate gene identification approach: progress and challenges. Int J Biol Sci 2007; 3 (7) 420-427
37 Tabor HK, Risch NJ, Myers RM. Candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet 2002; 3 (5) 391-397
38 Goldenberg RL, Andrews WW, Mercer BM , et al; National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network. The preterm prediction study: granulocyte colony-stimulating factor and spontaneous preterm birth. Am J Obstet Gynecol 2000; 182 (3) 625-630
39 Ruiz RJ, Jallo N, Murphey C, Marti CN, Godbold E, Pickler RH. Second trimester maternal plasma levels of cytokines IL-1Ra, Il-6 and IL-10 and preterm birth. J Perinatol 2012; 32 (7) 483-490
40 Kramer MS, Kahn SR, Platt RW , et al. Mid-trimester maternal plasma cytokines and CRP as predictors of spontaneous preterm birth. Cytokine 2010; 49 (1) 10-14
41 Cnattingius S, Villamor E, Johansson S , et al. Maternal obesity and risk of preterm delivery. JAMA 2013; 309 (22) 2362-2370
42 Johnson MJ, Petri M, Witter FR, Repke JT. Evaluation of preterm delivery in a systemic lupus erythematosus pregnancy clinic. Obstet Gynecol 1995; 86 (3) 396-399
43 Combs CA, Gravett M, Garite TJ , et al; ProteoGenix/Obstetrix Collaborative Research Network. Amniotic fluid infection, inflammation, and colonization in preterm labor with intact membranes. Am J Obstet Gynecol 2014; 210 (2) 125.e1-125.e15
44 Fortunato SJ, Menon R, Velez DR, Thorsen P, Williams SM. Racial disparity in maternal-fetal genetic epistasis in spontaneous preterm birth. Am J Obstet Gynecol 2008; 198 (6) 666.e1-666.e9 , discussion 666.e9–666.e10
45 Crider KS, Whitehead N, Buus RM. Genetic variation associated with preterm birth: a HuGE review. Genet Med 2005; 7 (9) 593-604
46 Schmid M, Haslinger P, Stary S, Leipold H, Egarter C, Grimm C. Interleukin-1 beta gene polymorphisms and preterm birth. Eur J Obstet Gynecol Reprod Biol 2012; 165 (1) 33-36
47 Marconi C, de Andrade Ramos BR, Peraçoli JC, Donders GG, da Silva MG. Amniotic fluid interleukin-1 beta and interleukin-6, but not interleukin-8 correlate with microbial invasion of the amniotic cavity in preterm labor. Am J Reprod Immunol 2011; 65 (6) 549-556
48 Cappelletti M, Della Bella S, Ferrazzi E, Mavilio D, Divanovic S. Inflammation and preterm birth. J Leukoc Biol 2015;
49 Simhan HN, Krohn MA, Zeevi A, Daftary A, Harger G, Caritis SN. Tumor necrosis factor-alpha promoter gene polymorphism -308 and chorioamnionitis. Obstet Gynecol 2003; 102 (1) 162-166
50 Hernandez-Guerrero C, Monzon-Bordonaba F, Jimenez-Zamudio L , et al. In-vitro secretion of proinflammatory cytokines by human amniochorion carrying hyper-responsive gene polymorphisms of tumour necrosis factor-alpha and interleukin-1beta. Mol Hum Reprod 2003; 9 (10) 625-629
51 Macones GA, Parry S, Elkousy M, Clothier B, Ural SH, Strauss III JF. 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 (6) 1504-1508 , discussion 3A
52 Wu W, Clark EA, Stoddard GJ , et al. Effect of interleukin-6 polymorphism on risk of preterm birth within population strata: a meta-analysis. BMC Genet 2013; 14: 30
53 Langmia IM, Apalasamy YD, Suki SZ, Omar SZ, Mohamed Z. Genetic association of AKAP10 gene polymorphism with reduced risk of preterm birth. J Perinatol 2015; 35 (9) 700-704
54 Rocha FG, Slavin TP, Li D, Tiirikainen MI, Bryant-Greenwood GD. Genetic associations of relaxin: preterm birth and premature rupture of fetal membranes. Am J Obstet Gynecol 2013; 209 (3) 258.e1-258.e8
55 Vogel I, Hollegaard MV, Hougaard DM, Thorsen P, Grove J. Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth. In Vivo 2009; 23 (6) 1005-1009
56 Uzun A, Laliberte A, Parker J , et al. dbPTB: a database for preterm birth. Database (Oxford) 2012; 2012: bar069
57 Velez DR, Fortunato SJ, Thorsen P, Lombardi SJ, Williams SM, Menon R. Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants. PLoS ONE 2008; 3 (9) e3283
58 Velez DR, Fortunato S, Thorsen P, Lombardi SJ, Williams SM, Menon R. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. Am J Obstet Gynecol 2009; 200 (2) 209.e1-209.e27
59 Zhang H, Baldwin DA, Bukowski RK , et al; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Genomic and Proteomic Network for Preterm Birth Research (GPN-PBR). A genome-wide association study of early spontaneous preterm delivery. Genet Epidemiol 2015; 39 (3) 217-226
60 Capece A, Vasieva O, Meher S, Alfirevic Z, Alfirevic A. Pathway analysis of genetic factors associated with spontaneous preterm birth and pre-labor preterm rupture of membranes. PLoS ONE 2014; 9 (9) e108578
61 Menon R, Conneely KN, Smith AK. DNA methylation: an epigenetic risk factor in preterm birth. Reprod Sci 2012; 19 (1) 6-13
62 Kacerovsky M, Lenco J, Musilova I , et al; PREBIC Biomarker Working Group 2012-2013. Proteomic biomarkers for spontaneous preterm birth: a systematic review of the literature. Reprod Sci 2014; 21 (3) 283-295
63 Manuck TA. Pharmacogenomics of preterm birth prevention and treatment: a review. BJOG 2015;
64 Uzun A, Sharma S, Padbury J. A bioinformatics approach to preterm birth. Am J Reprod Immunol 2012; 67 (4) 273-277
65 Purcell S, Neale B, Todd-Brown K , et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81 (3) 559-575
66 Kennedy B, Kronenberg Z, Hu H , et al. Using VAAST to identify disease-associated variants in next-generation sequencing data. Curr Protoc Hum Genet 2014; 81 :1, 25
67 Hu H, Huff CD, Moore B, Flygare S, Reese MG, Yandell M. VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Genet Epidemiol 2013; 37 (6) 622-634
68 Huang W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc 2009; 4 (1) 44-57
69 Huang W, Sherman BT, Lempicki RA. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res 2009; 37 (1) 1-13
70 Singleton MV, Guthery SL, Voelkerding KV , et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet 2014; 94 (4) 599-610
71 Kim M, Cooper BA, Venkat R , et al. GEneSTATION 1.0: a synthetic resource of diverse evolutionary and functional genomic data for studying the evolution of pregnancy-associated tissues and phenotypes. Nucleic Acids Res 2015;