Advertisement

Human Genetics

, Volume 124, Issue 6, pp 659–668 | Cite as

The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery

  • Yunxian Yu
  • Hui-Ju Tsai
  • Xin Liu
  • Karen Mestan
  • Shanchun Zhang
  • Colleen Pearson
  • Katherin Ortiz
  • Xiping Xu
  • Barry Zuckerman
  • Xiaobin Wang
Original Investigation

Abstract

Factor V (F5) genetic variants and maternal smoking during pregnancy individually has been associated with increased risk of preterm delivery (PTD). We hypothesize that F5 gene and maternal smoking may synergistically increase the risk of PTD. Three single nucleotide polymorphisms (SNPs) in F5 gene (rs6019, rs2213869 and rs6022) were genotyped in 542 mothers with PTD and 1,141 mothers with term deliveries at the Boston Medical Center. The individual and interactive effects of F5 SNPs and maternal smoking on PTD and gestational age were examined, respectively. The results suggested that maternal smoking, three F5 SNPs and F5 haplotype were individually associated with PTD and gestational age. More importantly, we found significant interactions between the two F5 SNPs (rs6019 and rs6022) and maternal smoking on PTD and gestational age. Compared with non-smoking mothers carrying rs6019 GG genotype, persistently smoking mothers carrying genotypes GC or CC were associated with significantly increased risk of PTD (OR(95% CI): 2.1(1.2–3.6) for GC; 5.7(2.1–15.0) for CC; p-interaction = 0.02). A significant interaction was also observed for gestational age. Similar pattern of interactions was found between rs6022 and maternal smoking on PTD. In summary, our data indicated that F5 gene variants and maternal smoking may synergistically increase the risk of PTD.

Keywords

Cotinine Maternal Smoking African American Mother Medical Record Documentation Smoking Interaction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

The study was supported in part by grants from the National Institute of Child Health and Human Development (R01 HD41702), National Institute of Environmental Health Sciences (R01ES11682, R21ES11666), and March of Dimes Birth Defects Foundation (20-FY98-0701, 20-FY02-56 and #21-FY07-605). We thank the nursing staff of Labor and Delivery at Boston Medical Center for their continuous support and assistance to the study and Lingling Fu for data management, and Ann Ramsey for administrative support. We would like to particularly thank the outstanding expert consultants of the BMC Preterm Study team: Drs. Paul Wise, Jerome Klein, John M. Kasznica, and Milton Kotelchuck.

Supplementary material

439_2008_589_MOESM1_ESM.doc (163 kb)
Electronic supplementary material (DOC 163 kb)

References

  1. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265PubMedCrossRefGoogle Scholar
  2. Benjamini Y, Yekutieli D (2001) The control of the false discovery rate in multiple testing under dependency. Ann Stat 29:1165–1188CrossRefGoogle Scholar
  3. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369:64–67PubMedCrossRefGoogle Scholar
  4. Cnattingius S (2004) The epidemiology of smoking during pregnancy: smoking prevalence, maternal characteristics, and pregnancy outcomes. Nicotine Tob Res 6(Suppl 2):S125–S140PubMedCrossRefGoogle Scholar
  5. Committee on understanding premature birth and assuring healthy outcomes board on health sciences policy (2006) Preterm birth: cause, consequences, and prevention. Washington, DC: Institute of Medicine of the National AcademiesGoogle Scholar
  6. Crider KS, Whitehead N, Buus RM (2005) Genetic variation associated with preterm birth: a HuGE review. Genet Med 7:593–604PubMedGoogle Scholar
  7. Dahlback B, Hildebrand B (1994) Inherited resistance to activated protein C is corrected by anticoagulant cofactor activity found to be a property of factor V. Proc Natl Acad Sci USA 91:1396–1400PubMedCrossRefGoogle Scholar
  8. Dawood F, Mountford R, Farquharson R, Quenby S (2007) Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR. Hum Reprod 22:2546–2553PubMedCrossRefGoogle Scholar
  9. Eliasson M, Asplund K, Evrin PE, Lundblad D (1995) Relationship of cigarette smoking and snuff dipping to plasma fibrinogen, fibrinolytic variables and serum insulin. The Northern Sweden MONICA Study. Atherosclerosis 113:41–53PubMedCrossRefGoogle Scholar
  10. Falush D, Stephens M, Pritchard JK (2003) Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 164:1567–1587PubMedGoogle Scholar
  11. Fantuzzi G, Aggazzotti G, Righi E, Facchinetti F, Bertucci E, Kanitz S, Barbone F, Sansebastiano G, Battaglia MA, Leoni V, Fabiani L, Triassi M, Sciacca S (2007) Preterm delivery and exposure to active and passive smoking during pregnancy: a case–control study from Italy. Paediatr Perinat Epidemiol 21:194–200PubMedCrossRefGoogle Scholar
  12. George L, Granath F, Johansson AL, Cnattingius S (2006) Self-reported nicotine exposure and plasma levels of cotinine in early and late pregnancy. Acta Obstet Gynecol Scand 85:1331–1337PubMedCrossRefGoogle Scholar
  13. Goldenberg RL (2002) The management of preterm labor. Obstet Gynecol 100:1020–1037PubMedCrossRefGoogle Scholar
  14. Goldenberg RL, Culhane JF, Iams JD, Romero R (2008) Epidemiology and causes of preterm birth. Lancet 371:75–84PubMedCrossRefGoogle Scholar
  15. Hao K, Wang X, Niu T, Xu X, Li A, Chang W, Wang L, Li G, Laird N, Xu X (2004) A candidate gene association study on preterm delivery: application of high-throughput genotyping technology and advanced statistical methods. Hum Mol Genet 13:683–691PubMedCrossRefGoogle Scholar
  16. Hong X, Hsu YH, Terwedow H, Arguelles LM, Tang G, Liu X, Zhang S, Xu X, Xu X (2007) CYP19A1 polymorphisms are associated with bone mineral density in Chinese men. Hum Genet 121:491–500PubMedCrossRefGoogle Scholar
  17. Kafkas S, Kalkan U, Bolaman Z, Sanci M, Yuksel H, Odabasi AR (2007) Evaluation of smoking as a risk factor for activated protein C resistance during pregnancy. Gynecol Obstet Invest 64:89–94PubMedCrossRefGoogle Scholar
  18. Klebanoff MA, Levine RJ, Morris CD, Hauth JC, Sibai BM, Ben Curet L, Catalano P, Wilkins DG (2001) Accuracy of self-reported cigarette smoking among pregnant women in the 1990s. Paediatr Perinat Epidemiol 15:140–143PubMedCrossRefGoogle Scholar
  19. Kramer MS, Platt R, Yang H, Joseph KS, Wen SW, Morin L, Usher RH (1998) Secular trends in preterm birth: a hospital-based cohort study. Jama 280:1849–1854PubMedCrossRefGoogle Scholar
  20. Longo LD (1976) Carbon monoxide: effects on oxygenation of the fetus in utero. Science 194:523–525PubMedCrossRefGoogle Scholar
  21. Macones GA, Parry S, Elkousy M, Clothier B, Ural SH, Strauss JFIII (2004) 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 190:1504–1508 discussion 3APubMedCrossRefGoogle Scholar
  22. Martin JA, Hamilton BE, Sutton PD, Ventura SJ, Menacker F, Kirmeyer S (2006) Births: final data for 2004. Natl Vital Stat Rep 55:1–101Google Scholar
  23. Nagashima J, Musha H, Takada H, Matsumoto N, Fujimaki R, Ishige N, Aono J, Murayama M (2007) Influence of physical fitness and smoking on the coagulation system in hypertensive patients: effect on prothrombin fragment F1 + 2. Intern Med 46:933–936PubMedCrossRefGoogle Scholar
  24. Ness RB, Grisso JA, Hirschinger N, Markovic N, Shaw LM, Day NL, Kline J (1999) Cocaine and tobacco use and the risk of spontaneous abortion. N Engl J Med 340:333–339PubMedCrossRefGoogle Scholar
  25. Peacock JL, Cook DG, Carey IM, Jarvis MJ, Bryant AE, Anderson HR, Bland JM (1998) Maternal cotinine level during pregnancy and birthweight for gestational age. Int J Epidemiol 27:647–656PubMedCrossRefGoogle Scholar
  26. Pollack H, Lantz PM, Frohna JG (2000) Maternal smoking and adverse birth outcomes among singletons and twins. Am J Public Health 90:395–400PubMedCrossRefGoogle Scholar
  27. Pritchard JK, Stephens M, Donnelly P (2000) Inference of population structure using multilocus genotype data. Genetics 155:945–959PubMedGoogle Scholar
  28. Rosing J, Hemker HC, Tans G (1998) Molecular biology and pathophysiology of APC resistance: current insights and clinical implications. Semin Thromb Hemost 24:329–335PubMedCrossRefGoogle Scholar
  29. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring HarborGoogle Scholar
  30. Shah NR, Bracken MB (2000) A systematic review and meta-analysis of prospective studies on the association between maternal cigarette smoking and preterm delivery. Am J Obstet Gynecol 182:465–472PubMedCrossRefGoogle Scholar
  31. Tsai HJ, Liu X, Mestan K, Yu Y, Zhang S, Fang Y, Pearson C, Ortiz K, Zuckerman B, Bauchner H, Cerda S, Stubblefield PG, Xu X, Wang X (2008) Maternal cigarette smoking, metabolic gene polymorphisms, and preterm delivery: new insights on G×E interactions and pathogenic pathways. Hum Genet 123:359–369PubMedCrossRefGoogle Scholar
  32. US Department of Health and Human Services (2004) The health consequences of smoking: a report of the surgeon general. Atlanta, GA: Centers for Disease Control and Prevention, National Center for Chronic Diseases Prevention and Health, Promotion, Office on Smoking and HealthGoogle Scholar
  33. Walsh RA (1994) Effects of maternal smoking on adverse pregnancy outcomes: examination of the criteria of causation. Hum Biol 66:1059–1092PubMedGoogle Scholar
  34. Wang L, Wang X, Laird N, Zuckerman B, Stubblefield P, Xu X (2006) Polymorphism in maternal LRP8 gene is associated with fetal growth. Am J Hum Genet 78:770–777PubMedCrossRefGoogle Scholar
  35. Wang X, Tager IB, Van Vunakis H, Speizer FE, Hanrahan JP (1997) Maternal smoking during pregnancy, urine cotinine concentrations, and birth outcomes. A prospective cohort study. Int J Epidemiol 26:978–988PubMedCrossRefGoogle Scholar
  36. Wang X, Zuckerman B, Pearson C, Kaufman G, Chen C, Wang G, Niu T, Wise PH, Bauchner H, Xu X (2002) Maternal cigarette smoking, metabolic gene polymorphism, and infant birth weight. Jama 287:195–202PubMedCrossRefGoogle Scholar
  37. Wannamethee SG, Lowe GD, Shaper AG, Rumley A, Lennon L, Whincup PH (2005) Associations between cigarette smoking, pipe/cigar smoking, and smoking cessation, and haemostatic and inflammatory markers for cardiovascular disease. Eur Heart J 26:1765–1773PubMedCrossRefGoogle Scholar
  38. Wigginton JE, Cutler DJ, Abecasis GR (2005) A note on exact tests of Hardy–Weinberg equilibrium. Am J Hum Genet 76:887–893PubMedCrossRefGoogle Scholar
  39. Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel PI, Belmont JW, Seldin MF (2005) Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet 118:382–392PubMedCrossRefGoogle Scholar
  40. Zhao J (2007) Gap: genetic analysis package. J Stat Softw 23:1–18Google Scholar

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Yunxian Yu
    • 1
    • 3
    • 6
  • Hui-Ju Tsai
    • 1
    • 3
  • Xin Liu
    • 1
    • 3
  • Karen Mestan
    • 2
    • 3
  • Shanchun Zhang
    • 1
    • 3
  • Colleen Pearson
    • 4
  • Katherin Ortiz
    • 4
  • Xiping Xu
    • 5
  • Barry Zuckerman
    • 4
  • Xiaobin Wang
    • 1
    • 3
  1. 1.Mary Ann and J. Milburn Smith Child Health Research ProgramChildren’s Memorial Hospital and Children’s Memorial Research CenterChicagoUSA
  2. 2.Division of NeonatologyChildren’s Memorial Hospital and Children’s Memorial Research CenterChicagoUSA
  3. 3.Department of Pediatrics, Feinberg School of MedicineNorthwestern UniversityChicagoUSA
  4. 4.Department of PediatricsBoston University School of Medicine and Boston Medical CenterBostonUSA
  5. 5.Center for Population Genetics, School of Public HealthUniversity of Illinois at ChicagoChicagoUSA
  6. 6.Department of Epidemiology and Health Statistics, School of Public HealthZhejiang UniversityHangzhouChina

Personalised recommendations