Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 702-710

  Gupta, Tanya ^a   Yang, Wei ^b   Iovannisci, David M ^c   Carmichael, Suzan L ^b   Stevenson, David K ^b   Shaw, Gary M ^b   Lammer, Edward J ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

Congenital; Epidemiology; Genes; Single nucleotide polymorphisms; Small intestine atresia

Indexed keywords

GENOMIC DNA; HOMOCYSTEINE;

ADD1 GENE; ADRB2 GENE; AGT GENE; AGTR1 GENE; AMINO ACID METABOLISM; ARTICLE; BLOOD CLOTTING; BLOOD PRESSURE REGULATION; CARDIOVASCULAR RISK; CASE CONTROL STUDY; CELL INTERACTION; CHILD; CONTROLLED STUDY; DISEASE ACTIVITY; DUODENUM ATRESIA; ETHNIC GROUP; EXPLORATORY RESEARCH; F2 GENE; F5 GENE; F7 GENE; FEMALE; FGB GENE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GNB3 GENE; HEREDITY; HUMAN; ICAM1 GENE; INFANT; INFLAMMATION; INTESTINE ATRESIA; ITGA2 GENE; ITGB3 GENE; LTA GENE; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; MMP3 GENE; MTHFR GENE; NEWBORN; NOS3 GENE; NPPA GENE; PATHOGENESIS; POPULATION RESEARCH; PRIORITY JOURNAL; RISK ASSESSMENT; SCNN1A GENE; SELE GENE; SERPINE1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL INTESTINE ATRESIA; TNF GENE; VASCULAR DISEASE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTESTINAL ATRESIA; INTESTINE, SMALL; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; YOUNG ADULT;

EID: 84875519922     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35775     Document Type: Article

References (40)

1. Albanese CT, Sylvester KG. 2009. Pediatric surgery. In: Doherty GM, editor. Current diagnosis & treatment: Surgery, 13th edition. New York City, NY: McGraw-Hill. pp 1153-1208.
2. Baglaj SM, Czernik J, Kuryszko J, Kuropka P. 2001. Natural history of experimental intestinal atresia: Morphologic and ultrastructural study. J Pediatr Surg 36:1428-1434.
3. Carmichael SL, Shaw GM, Iovannisci DM, Yang W, Finnell RH, Cheng S, Lammer EJ. 2006. Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Am J Med Genet Part A 140A:2433-2440.
4. Cheng W, Tam PK. 1998. Murine duodenum does not go through a "solid core" stage in its embryological development. Eur J Pediatr Surg 8:212-215.
5. Cheng S, Grow MA, Pallaud C, Klitz W, Erlich HA, Visvikis S, Chen JJ, Pullinger CR, Malloy MJ, Siest G, Kane JP. 1999. A multilocus genotyping assay for candidate markers of cardiovascular disease risk. Genome Res 9:936-949.
6. Chin JR, Murphy G, Werb Z. 1985. Stromelysin, a connective tissue-degrading metalloendopeptidase secreted by stimulated rabbit synovial fibroblasts in parallel with collagenase. Biosynthesis, isolation, characterization, and substrates. J Biol Chem 260:12367-12376.
7. Cragan JD, Martin ML, Moore CA, Khoury MJ. 1993. Descriptive epidemiology of small intestinal atresia, Atlanta, Georgia. Teratology 48:441-450.
8. Cragan JD, Martin ML, Waters GD, Khoury MJ. 1994. Increased risk of small intestinal atresia among twins in the United States. Arch Pediatr Adolesc Med 148:733-739.
9. Croen LA, Shaw GM, Jensvold NG, Harris JA. 1991. Birth defects monitoring in California: A resource for epidemiological research. Paediatr Perinat Epidemiol 5:423-427.
10. Djuric T, Zivkovic M, Radak D, Jekic D, Radak S, Stojkovic L, Raicevic R, Stankovic A, Alavantic D. 2008. Association of MMP-3 5A/6A gene polymorphism with susceptibility to carotid atherosclerosis. Clin Biochem 41:1326-1329.
11. Fairbanks TJ, Kanard R, Del Moral PM, Sala FG, De Langhe S, Warburton D, Anderson KD, Bellusci S, Burns RC. 2004. Fibroblast growth factor receptor 2 IIIb invalidation-A potential cause of familial duodenal atresia. J Pediatr Surg 39:872-874.
12. Fang S, Jin X, Wang R, Li Y, Guo W, Wang N, Wang Y, Wen D, Wei L, Zhang J. 2005. Polymorphisms in the MMP1 and MMP3 promoter and non-small cell lung carcinoma in North China. Carcinogenesis 26:481-486.
13. Green SA, Turki J, Innis M, Liggett SB. 1994. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 33:9414-9419.
14. Green SA, Turki J, Bejarano P, Hall IP, Liggett SB. 1995. Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells. Am J Respir Cell Mol Biol 13:25-33.
15. Iovannisci DM. 2000. Highly efficient recovery of DNA from dried blood using the MasterPure™ complete DNA and RNA purification kit. Epicentre Forum 7:6-8.
16. Johnson SM, Meyers RL. 2001. Inherited thrombophilia: A possible cause of in utero vascular thrombosis in children with intestinal atresia. J Pediatr Surg 36:1146-1149.
17. Kanard RC, Fairbanks TJ, De Langhe SP, Sala FG, Del Moral PM, Lopez CA, Warburton D, Anderson KD, Bellusci S, Burns RC. 2005. Fibroblast growth factor-10 serves a regulatory role in duodenal development. J Pediatr Surg 40:313-316.
18. Koga Y, Hayashida Y, Ikeda K, Inokuchi K, Hashimoto N. 1975. Intestinal atresia in fetal dogs produced by localized ligation of mesenteric vessels. J Pediatr Surg 10:949-953.
19. Kunicki TJ, Kritzik M, Annis DS, Nugent DJ. 1997. Hereditary variation in platelet integrin alpha 2 beta 1 density is associated with two silent polymorphisms in the alpha 2 gene coding sequence. Blood 89:1939-1943.
20. Large V, Hellstrom L, Reynisdottir S, Lonnqvist F, Eriksson P, Lannfelt L, Arner P. 1997. Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function. J Clin Invest 100:3005-3013.
21. Louis E, Ribbens C, Godon A, Franchimont D, De Groote D, Hardy N, Boniver J, Belaiche J, Malaise M. 2000. Increased production of matrix metalloproteinase-3 and tissue inhibitor of metalloproteinase-1 by inflamed mucosa in inflammatory bowel disease. Clin Exp Immunol 120:241-246.
22. Louw JH, Barnard CN. 1955. Congenital intestinal atresia; observations on its origin. Lancet 269:1065-1067.
23. Lynch AI, Claas SA, Arnett DK. 2009. A review of the role of atrial natriuretic peptide gene polymorphisms in hypertension and its sequelae. Curr Hypertens Rep 11:35-42.
24. Martinez FD, Graves PE, Baldini M, Solomon S, Erickson R. 1997. Association between genetic polymorphisms of the beta2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J Clin Invest 100:3184-3188.
25. Naito Y, Yoshikawa T. 2005. Role of matrix metalloproteinases in inflammatory bowel disease. Mol Aspects Med 26:379-390.
26. Nichol PF, Reeder A, Botham R. 2011. Humans, mice, and mechanisms of intestinal atresias: A window into understanding early intestinal development. J Gastrointest Surg 15:694-700.
27. Passarge E, Stevenson RE. 2006. Small and large intestines. In: Stevenson RE, Hall JG, editors. Human malformations and related anomalies, 2nd edition. New York: Oxford University Press. pp 1097-1114.
28. Rode H, Numanoglu A. 2009. Jejuno-ileal atresia. In: Puri P, Höllwarth M, editors. Pediatric surgery: Diagnosis and management. New York, NY: Springer. pp 405-407.
29. Sadler TW. 2010. Langman's medical embryology, 11th edition. Baltimore: Lippincott, Williams & Wilkins. p. 229.
30. Sadler TW, Rasmussen SA. 2010. Examining the evidence for vascular pathogenesis of selected birth defects. Am J Med Genet Part A 152A:2426-2436.
31. Shaw GM, Iovannisci DM, Yang W, Finnell RH, Carmichael SL, Cheng S, Lammer EJ. 2005. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Am J Med Genet Part A 138A:21-26.
32. Srivastava P, Mandhani A, Kapoor R, Mittal RD. 2010. Role of MMP-3 and MMP-9 and their haplotypes in risk of bladder cancer in North Indian cohort. Ann Surg Oncol 17:3068-3075.
33. Tibboel D, van Nie CJ, Molenaar JC. 1980. The effects of temporary general hypoxia and local ischemia on the development of the intestines: An experimental study. J Pediatr Surg 15:57-62.
34. 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.
35. Vairaktaris E, Yapijakis C, Vasiliou S, Derka S, Nkenke E, Serefoglou Z, Vorris E, Vylliotis A, Ragos V, Neukam FW, Patsouris E. 2007. Association of -1171 promoter polymorphism of matrix metalloproteinase-3 with increased risk for oral cancer. Anticancer Res 27:4095-4100.
36. Werler MM, Sheehan JE, Mitchell AA. 2002. Maternal medication use and risks of gastroschisis and small intestinal atresia. Am J Epidemiol 155:26-31.
37. Werler MM, Sheehan JE, Mitchell AA. 2003. Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. Epidemiology 14:349-354.
38. Woo RK, Albanese CT. 2008. Pediatric surgery. In: Norton JA, Barie PS, Bollinger RR, Chang AE, Lowry SF, Mulvihill SJ, Pass HI, Thompson RW, editors. Surgery: Basic science and clinical evidence, 2nd edition. New York, NY: Springer. p. 669.
39. Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM. 1996. Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 271:13055-13060.
40. Zhu C, Odeberg J, Hamsten A, Eriksson P. 2006. Allele-specific MMP-3 transcription under in vivo conditions. Biochem Biophys Res Commun 348:1150-1156.