Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 808-811

  Lubinsky, Mark ^a  

^a NONE   (United States)

Author keywords

Atrazine; Body mass index; Estrogen; Gastroschisis; Limb body wall complex; Maternal age; Palmitic acid; Race; Thrombosis

Indexed keywords

ALCOHOL; ATRAZINE; ENDOCRINE DISRUPTOR; ESTRADIOL; ESTROGEN; PALMITIC ACID;

AGE DISTRIBUTION; AMNION CELL; BODY MASS; DEVELOPMENTAL STAGE; DISEASE ASSOCIATION; ENVIRONMENTAL EXPOSURE; ESTROGEN ACTIVITY; ESTROGEN BLOOD LEVEL; EXPERIMENTAL MOUSE; FIRST TRIMESTER PREGNANCY; GASTROSCHISIS; GENETIC POLYMORPHISM; HORMONE RESPONSE; HUMAN; INTRACELLULAR SIGNALING; MATERNAL AGE; NONHUMAN; OBESITY; PALMITOYLATION; PATHOGENESIS; PREMENOPAUSE; PRIORITY JOURNAL; RACE DIFFERENCE; REVIEW; RISK FACTOR; THROMBOPHILIA; THROMBOSIS;

EID: 84859008990     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35203     Document Type: Review

References (61)

1. Austin H, Lally C, Benson JM, Whitsett C, Hooper WC, Key NS. 2009. Hormonal contraception, sickle cell trait, and risk for venous thromboembolism among African American women. Am J Obstet Gynecol 200: 620.e1- 620.e3.
2. Benjamin BG, Ethen MK, Van Hook CL, Myers CA, Canfield MA. 2010. Gastroschisis prevalence in Texas 1999-2003. Birth Defects Res A Clin Mol Teratol 88: 178- 185.
3. Buckner TW, Amin C, Esserman DA, Key NS. 2010. African-Americans have a higher rate of proximal deep vein thrombosis at presentation. Thromb Res 126: e246- e247.
4. Campbell CG, Borglin SE, Green FB, Grayson A, Wozei E, Stringfellow WT. 2006. Biologically directed environmental monitoring, fate, and transport of estrogenic endocrine disrupting compounds in water: A review. Chemosphere 65: 1265- 1280.
5. Cardonick E, Broth R, Kaufmann M, Seaton J, Henning D, Roberts N, Wapner RM. 2005. Genetic predispositions for thromboembolism as a possible etiology for gastroschisis. Am J Obstet Gynecol 193: 426- 428.
6. Castilla EE, Mastroiacovo P, Orioli IM. 2008. Gastroschisis: International epidemiology and public health perspectives. Am J Med Genet Part C Semin Med Genet 148C: 162- 179.
7. Chabra S, Gleason CA. 2005. Gastroschisis: Embryology, pathogenesis, epidemiology. Neo Rev 11: e493- e499.
8. Chabra S, Gleason CA, Seidel K, Williams MA. 2011. Rising prevalence of gastroschisis in Washington State. J Toxicol Environ Health A 74: 336- 345.
9. Curry CJ, Lammer EJ, Nelson V, Shaw GM. 2005. Schizencephaly: Heterogeneous etiologies in a population of 4 million California births. Am J Med Genet Part A 137A: 181- 189.
10. Curry JI, McKinney P, Thornton JG, Stringer MD. 2000. The aetiology of gastroschisis. BJOG 107: 1339- 1346.
11. Davis PH. 2008. Use of oral contraceptives and postmenopausal hormone replacement: Evidence on risk of stroke. Curr Treat Options Neurol 10: 468- 474.
12. Feldkamp ML, Carmichael SL, Shaw GM, Panichello JD, Moore CA, Botto LD. 2011. Maternal nutrition and gastroschisis: Fndings from the National Birth Defects Prevention Study. Am J Obstet Gynecol 204: 404.e1- 404.e10.
13. Feldkamp ML, Reefhuis J, Kucik J, Krikov S, Wilson A, Moore CA, Carey JC, Botto LD. 2008. Case-control study of self reported genitourinary infections and risk of gastroschisis: Findings from the National Birth Defects Prevention Study, 1997-2003. BMJ 336: 1420- 1423.
14. Garcia-Filion P, Fink C, Geffner ME, Borchert M. 2008a. Optic nerve hypoplasia in North America: A re-appraisal of perinatal risk factors. Acta Ophthalmol 88: 527- 534.
15. Garcia-Filion P, Epport K, Nelson M, Azen C, Geffner ME, Fink C, Borchert M. 2008b. Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: A prospective study. Pediatrics 121: e653- e659.
16. Heit JA, Beckman MG, Bockenstedt PL, Grant AM, Key NS, Kulkarni R, Manco-Johnson MJ, Moll S, Ortel TL, Philipp CS. CDC Thrombosis and Hemostasis Centers Research and Prevention Network. 2010. Comparison of characteristics from white- and black-americans with venous thromboembolism: A cross sectional study. Am J Hematol 85: 467- 471.
17. Howe DT, Rankin J, Draper ES. 2011. Schizencephaly prevalence, prenatal diagnosis and clues to aetiology; a register based study. Ultrasound Obstet Gynecol 6. DOI: 10.1002/uog.9069. [Epub ahead of print].
18. Hunter AGW, Seaver LH, Stevenson RE. 2011. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet Part A 155A: 2045- 2059.
19. Husain T, Langlois PH, Sever LE, Gambello MJ. 2008. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth Defects Res A Clin Mol Teratol 82: 435- 440.
20. Jones KL, Benirschke K, Chambers CD. 2009. Gastroschisis: Etiology and developmental pathogenesis. Clin Genet 75: 322- 325.
21. Kohl M, Wiesel A, Schier F. 2010. Familial recurrence of gastroschisis: Literature review and data from the population-based birth registry "Mainz Model." J Pediatr Surg 45: 1907- 1912.
22. Kunz LH, Gilbert WM, Towner DR. 2005. Increased incidence of cardiac anomalies in pregnancies complicated by gastroschisis. Am J Obstet Gynecol 193: 1248- 1252.
23. Lee AYY. 2005. Chapter 84. Women's health and venous thromboembolism. In: Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ, eds. Hemostasis and thrombosis: Basic principles and clinical practice 5th edition. Philadelphia: Lippincott, Williams & Wilkins. pp 1235- 1250.
24. Levin M. 2005. Left-right asymmetry in embryonic development: A comprehensive review. Mech Dev 122: 3- 25.
25. Loane M, Dolk H, Bradbury I, a EUROCAT Working Group. 2007. Increasing prevalence of gastroschisis in Europe 1980-2002: A phenomenon restricted to younger mothers? Paediatr Perinat Epidemiol 21: 363- 369.
26. Loane M, Dolk H, Morris JK. 2009. Maternal age-specific risk of non-chromosomal anomalies. BJOG 116: 1111- 1119.
27. López JA, Del Conde I, Shrimpton CN. 2005. Receptors, rafts, and microvesicles in thrombosis and inflammation. J Thromb Haemostasis 3: 1737- 1744.
28. Lubinsky MS. 1997a. Hypothesis: Septo-optic dysplasia is a vascular disruption sequence. Am J Med Genet 69: 235- 236.
29. Lubinsky MS. 1997b. Association of prenatal vascular disruptions with decreased maternal age. Am J Med Genet 69: 237- 239.
30. Lubinsky MS, Adkins W, Kaveggia EG. 1997. Decreased maternal age and hydranencephaly. Am J Med Genet 69: 232- 234.
31. Martínez-Frías ML. 1997. Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency. Amer J Med Genet 73: 170- 175.
32. Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E. 2000. Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: Comparative epidemiology. Amer J Med Genet 92: 13- 18.
33. Maskarinec G, Morimoto Y, Takata Y, Murphy SP, Stanczyk FZ. 2006. Alcohol and dietary fibre intakes affect circulating sex hormones among premenopausal women. Public Health Nutr 9: 875- 881.
34. Mastroiacovo P, Källén B, Knudsen LB, Lancaster PAL, Castilla EE, Mutchinick O, Robert E. 1992. Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions. Teratol 46: 455- 464.
35. Mattix KD, Winchester PD, Scherer LR. 2007. Incidence of abdominal wall defects is related to surface water atrazine and nitrate levels. J Pediatr Surg 42: 947- 949.
36. Miller J, Chan BKS, Nelson HD. 2002. Postmenopausal estrogen replacement and risk for venous thromboembolism: A systematic review and meta-analysis for the U.S. Preventive Services Task Force. Ann Intern Med 136: 680- 690.
37. Murray PG, Paterson WF, Donaldson MD. 2005. Maternal age in patients with septo-optic dysplasia. J Pediatr Endocrinol Metab 18: 471- 476.
38. Ness RB, Grainger DA. 2008. Male reproductive proteins and reproductive outcomes. Am J Obstet Gynecol 198: 620.e1- 620.e4.
39. Opitz JM, Pysher TJ. 2008. Invited editorial comment: Further reflections on gastroschisis. Am J Med Genet Part C Semin Med Genet 148C: 192- 198.
40. Patel RK, Arya R. 2003. Tests for hereditary thrombophilia are of limited value in the black population. Stroke 34: e236.
41. Potischman N, Swanson CA, Siiteri P, Hoover RN. 1996. Reversal of relation between body mass and endogenous estrogen concentrations with menopausal status. J Natl Cancer Inst 88: 756- 758.
42. Potischman N, Troisi R, Thadhani R, Hoover RN, Dodd K, Davis WW, Sluss PM, Hsieh CC, Ballard-Barbash R. 2005. Pregnancy hormone concentrations across ethnic groups: Implications for later cancer risk. Cancer Epidemiol Biomarkers Prev 14: 1514- 1520.
43. Resh MD. 2006. Palmitoylation of ligands, receptors, and intracellular signaling molecules. Sci STKE 359: re14.
44. Richardson S, Browne ML, Rasmussen SA, Druschel CM, Sun L, Jabs EW, Romitti PA, and the National Birth Defects Prevention Study. 2011. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol 91: 623- 630.
45. Riedl S, Vosahlo J, Battelino T, Stirn-Kranjc B, Brugger PC, Prayer D, Müllner-Eidenböck A, Kapelari K, Blümel P, Waldhör T, Krasny J, Lebl J, Frisch H. 2008. Refining clinical phenotypes in septo-optic dysplasia based on MRI findings. Eur J Pediatr 167: 1269- 1276.
46. Sadler TW. 2009. The embryologic origin of ventral body wall defects. Semin Pediatr Surg 19: 209- 214.
47. Sadler TW, Rasmussen SA. 2010. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet Part A 152A: 2426- 2436.
48. Stetten DeW, Schoenheimer R. 1940. The conversion of palmitic acid into stearic and palmitoleic acids in rats. J Biol Chem 133: 329- 345.
49. Stevenson RE, Rogers RC, Chandler JC, Gauderer MWL, Hunter AGW. 2009. Escape of the yolk sac: A hypothesis to explain the embryogenesis of gastroschisis. Clin Genet 75: 326- 333.
50. Stothard KJ, Tennant PW, Bell R, Rankin J. 2009. Maternal overweight and obesity and the risk of congenital anomalies: A systematic review and meta-analysis. JAMA 301: 636- 650.
51. Tong MH, Jiang H, Liu P, Lawson JA, Brass LF, Song W-C. 2005. Spontaneous fetal loss caused by placental thrombosis in estrogen sulfotransferase-deficient mice. Nat Med 11: 153- 159.
52. Torfs CP, Christianson RE, Iovannisci DM, Shaw GM, Lammer EJ. 2006. Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Birth Defects Res A Clin Mol Teratol 76: 723- 730.
53. Torfs CP, Katz EA, Bateson TF, Lam PK, Curry CJR. 1996. Maternal medications and environmental exposures as risk factors for gastroschisis. Teratology 54: 84- 92.
54. Troisi R, Hoover RN, Thadhani R, Hsieh C-C, Sluss P, Ballard-Barbash R, Potischman N. 2008. Maternal, prenatal and perinatal characteristics and first trimester maternal serum hormone concentrations. Br J Cancer 99: 1161- 1164.
55. Vu LT, Nobuhara KK, Laurent C, Shaw GM. 2008. Increasing prevalence of gastroschisis: Population-based study in California. J Pediatr 152: 807- 811.
56. Waller SA, Paul K, Peterson SE, Hitti JE. 2010. Agricultural-related chemical exposures, season of conception, and risk of gastroschisis in Washington State. Am J Obstet Gynecol 202: 241.e1- 246.
57. Werler MM, Sheehan JE, Mitchell AA. 2003. Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. Epidemiology 14: 349- 354.
58. Werler MM, Mitchell AA, Moore CA, Honein MA. 2009. Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis? Am J Med Genet Part A 149A: 1399- 1406.
59. Williams LJ, Kucik JE, Alverson CJ, Olney RS, Correa A. 2005. Epidemiology of gastroschisis in metropolitan Atlanta, 1968 through 2000. Birth Defects Res A 73: 177- 183.
60. Wolf PA, Kannel WB. 2007. Editorial: Preventing stroke. Does race/ethnicity matter? Circulation 116: 2099- 2100.
61. Yang P, Beaty TH, Khoury MJ, Chee E, Stewart W, Gordis L. 1992. Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am J Med Genet 44: 668- 675.