Human Polymorphisms in Placentally Expressed Genes and Their Association with Susceptibility to Congenital Trypanosoma cruzi Infection

Journal of Infectious Diseases

Volumn 213, Issue 8, 2016, Pages 1299-1306

  Juiz, Natalia A ^a   Cayo, Nelly M ^d   Burgos, Marianela ^b   Salvo, Miriam E ^b   Nasser, Julio R ^e   Búa, Jacqueline ^c   Longhi, Silvia A ^a   Schijman, Alejandro G ^a  

^a INSTITUTO DE INVESTIGACIONES EN INGENIERÍA GENÉTICA Y BIOLOGÍA MOLECULAR   (Argentina)

^b HOSPITAL NACIONAL PROFESOR ALEJANDRO POSADAS   (Argentina)

^c Administracion Nacional de Laboratorios E Institutos de Salud Dr Carlos G Malbran   (Argentina)

^d UNIVERSIDAD NACIONAL DE JUJUY   (Argentina)

^e UNIVERSIDAD NACIONAL DE SALTA   (Argentina)

Author keywords

ADAM12; ALPP; congenital Chagas; MMP2; MMP9; SNPs

Indexed keywords

ADOLESCENT; ARTICLE; CASE CONTROL STUDY; CHAGAS DISEASE; CONGENITAL INFECTION; CONTROLLED STUDY; EXTRACELLULAR MATRIX; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOTYPING TECHNIQUE; HUMAN; IMMUNE RESPONSE; INFANT; MAJOR CLINICAL STUDY; PLACENTAL TRANSFER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VERTICAL TRANSMISSION; CHILD; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MOTHER; NEWBORN; PLACENTA; PREGNANCY; PRESCHOOL CHILD; STATISTICAL MODEL; TRYPANOSOMA CRUZI;

METALLOPROTEINASE;

ADOLESCENT; CASE-CONTROL STUDIES; CHAGAS DISEASE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; LOGISTIC MODELS; METALLOENDOPEPTIDASES; MOTHERS; PLACENTA; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; TRYPANOSOMA CRUZI;

EID: 84965148343     PISSN: 00221899     EISSN: 15376613     Source Type: Journal    
DOI: 10.1093/infdis/jiv561     Document Type: Article

References (50)

1. Chagas disease in Latin America: an epidemiological update based on 2010 estimates. Wkly Epidemiol Rec 2015; 90:33-43.
2. Gascon J, Bern C, Pinazo MJ. Chagas disease in Spain, the United States and other non-endemic countries. Acta Trop 2010; 115:22-7.
3. Carlier Y, Truyens C. Congenital Chagas disease as an ecological model of interactions between Trypanosoma cruzi parasites, pregnant women, placenta and foetuses. Acta Trop 2015; 151:103-15.
4. Hermann E, Truyens C, Alonso-Vega C, et al. Congenital transmission of Trypanosoma cruzi is associated with maternal enhanced parasitemia and decreased production of interferon-gamma in response to parasite antigens. J Infect Dis 2004; 189:1274-81.
5. Brutus L, Castillo H, Bernal C, et al. Short report: Detectable Trypanosoma cruzi parasitemia during pregnancy and delivery as a risk factor for congenital Chagas disease. Am J Trop Med Hyg 2010; 83:1044-7.
6. Burgos JM, Altcheh J, Petrucelli N, et al. Molecular diagnosis and treatment monitoring of congenital transmission of Trypanosoma cruzi to twins of a triplet delivery. Diagn Microbiol Infect Dis 2009; 65:58-61.
7. Ortiz S, Zulantay I, Solari A, et al. Presence of Trypanosoma cruzi in pregnant women and typing of lineages in congenital cases. Acta Trop 2012; 124:243-6.
8. Bua J, Volta BJ, Perrone AE, et al. How to improve the early diagnosis of Trypanosoma cruzi infection: relationship between validated conventional diagnosis and quantitative DNA amplification in congenitally infected children. PLoS Negl Trop Dis 2013; 7:12-4.
9. Sánchez Negrette O, Mora MC, Basombrío MA. High prevalence of congenital Trypanosoma cruzi infection and family clustering in Salta, Argentina. Pediatrics 2005; 115:e668-72.
10. Schenone H, Gaggero M, Sapunar J, Contreras MC, Rojas A. Congenital Chagas disease of second generation in Santiago, Chile. Report of two cases. Rev Inst Med Trop Sao Paulo 2001; 43:231-2.
11. Sartori MJ, Lin S, Frank FM, Malchiodi EL, de Fabro SP. Role of placental alkaline phosphatase in the interaction between human placental trophoblast and Trypanosoma cruzi. Exp Mol Pathol 2002; 72:84-90.
12. Mezzano L, Sartori MJ, Lin S, Repossi G, de Fabro SP. Placental alkaline phosphatase (PLAP) study in diabetic human placental villi infected with Trypanosoma cruzi. Placenta 2005; 26:85-92.
13. Duaso J, Rojo G, Cabrera G, et al. Trypanosoma cruzi induces tissue disorganization and destruction of chorionic villi in an ex vivo infection model of human placenta. Placenta 2010; 31:705-11.
14. Castillo C, López-Muñoz R, Duaso J, et al. Role of matrix metalloproteinases 2 and 9 in ex vivo Trypanosoma cruzi infection of human placental chorionic villi. Placenta 2012; 33:991-7.
15. Pollheimer J, Fock V, Knöfler M. Review: The ADAM metalloproteinases-novel regulators of trophoblast invasion? Placenta 2014; 35(suppl):57-63.
16. Metzger IF, Luizon MR, Lacchini R, Tanus-Santos JE. Genetic variants in matrix metalloproteinase-9 gene modify metalloproteinase-9 levels in black subjects. DNA Cell Biol 2012; 31:504-10.
17. Demacq C, Vasconcellos VB, Marcaccini AM, Gerlach RF, Silva WA, Tanus-Santos JE. Functional polymorphisms in the promoter of the matrix metalloproteinase-9 (MMP-9) gene are not linked with significant plasma MMP-9 variations in healthy subjects. Clin Chem Lab Med 2008; 46:57-63.
18. 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; 81:559-75.
19. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-5.
20. Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics 2003; 19:376-82.
21. Moore JH, Gilbert JC, Tsai CT, et al. A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility. J Theor Biol 2006; 241:252-61.
22. Howard EJ, Xiong X, Carlier Y, Sosa-Estani S, Buekens P. Frequency of the congenital transmission of Trypanosoma cruzi: A systematic review and meta-analysis. BJOG An Int J Obstet Gynaecol 2014; 121:22-33.
23. Yu C, Pan K, Xing D, Promoter M-, Cancer L. Correlation between a Single Nucleotide Polymorphism in the Matrix Metalloproteinase-2 Promoter and Risk of Lung Cancer Advances in Brief Correlation between a Single Nucleotide Polymorphism in the Matrix. Cancer Res 2002:6430-3.
24. Korkmaz KS, de Rooij BJ, van Hoek B, et al. MMP-2 is a disease-modifying gene in primary sclerosing cholangitis. Liver Int 2014; 34:274-80.
25. Harendza S, Lovett DH, Panzer U, Lukacs Z, Kuhnl P, Stahl RA. Linked common polymorphisms in the gelatinase a promoter are associated with diminished transcriptional response to estrogen and genetic fitness. J Biol Chem 2003; 278:20490-9.
26. Hua Y, Song L, Wu N, et al. Polymorphisms of MMP-2 gene are associated with systolic heart failure risk in Han Chinese. Am J Med Sci 2009; 337:344-8.
27. Hua Y, Song L, Wu N, et al. Polymorphisms of MMP-2 gene are associated with systolic heart failure prognosis. Clin Chim Acta 2009; 404:119-23.
28. Geurts N, Opdenakker G, Van den Steen PE. Matrix metalloproteinases as therapeutic targets in protozoan parasitic infections. Pharmacol Ther 2012; 133:257-79.
29. Ye S. Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases. Matrix Biol 2000; 19:623-9.
30. St Jean PL, Zhang XC, Hart BK, et al. Characterization of a dinucleotide repeat in the 92 kDa type IV collagenase gene (CLG4B), localization of CLG4B to chromosome 20 and the role of CLG4B in aortic aneurysmal disease. Ann Hum Genet 1995; 59(Pt 1):17-24.
31. Shimajiri S, Arima N, Tanimoto A, et al. Shortened microsatellite d(CA)21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene. FEBS Lett 1999; 455:70-4.
32. Huang T-S, Lee C-C, Chang A-C, et al. Shortening of microsatellite deoxy(CA) repeats involved in GL331-induced down-regulation of matrix metalloproteinase-9 gene expression. Biochem Biophys Res Commun 2003; 300:901-7.
33. Fiotti N, Moretti ME, Bussani R, et al. Features of vulnerable plaques and clinical outcome of UA/NSTEMI: Relationship with matrix metalloproteinase functional polymorphisms. Atherosclerosis 2011; 215:153-9.
34. Hirakawa S, Lange E, Colicigno C, Freedman B, Rich S, Bowden D. Evaluation of genetic variation and association in the matrix metalloproteinase 9 (MMP9) gene in ESRD patients. Am J Kidney Dis 2003; 42:133-42.
35. Zhang B, Ye S, Herrmann S-M, et al. Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 1999; 99:1788-94.
36. Rahimi Z, Shahsavandi M, Bidoki K, Rezaei M. MMP-9 (-1562 C:T) polymorphism as a biomarker of susceptibility to severe pre-eclampsia. Biomark Med 2013; 7:93-8.
37. Lee T, Yu C, Wu C, et al. MMP-9-1562 promoter polymorphism associated with gastric cancer risk in females. Hepatogastroenterology 2013; 60:126.
38. Grill S, Rusterholz C, Zanetti-Dällenbach R, et al. Potential markers of preeclampsia-A review. Reprod Biol Endocrinol 2009; 7:70.
39. Rausch ME, Barnhart KT. Serum biomarkers for detecting ectopic pregnancy. Clin Obstet Gynecol 2012; 55:418-23.
40. Ming M, Ewen ME, Pereira ME. Trypanosome invasion of mammalian cells requires activation of the TGF beta signaling pathway. Cell 1995; 82:287-96.
41. Hall BS, Pereira MA. Dual role for transforming growth factor beta-dependent signaling in Trypanosoma cruzi infection of mammalian cells. Infect Immun 2000; 68:2077-81.
42. Harold D, Jehu L, Turic D, et al. Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 2007; 144B:448-52.
43. Laumet G, Petitprez V, Sillaire A, et al. A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease. Neurosci Lett 2010; 468:1-2.
44. Wang L, Guo L, Tian F, Hao R, Yang T. Analysis of single nucleotide polymorphisms within ADAM12 and risk of knee osteoarthritis in a Chinese Han population. 2015; 2015:518643.
45. Fretes R, de Fabro S. Human chagasic placental localization of enzymes associated to syncytiotrophoblast membrane. Comun Biológicas 1990; 9:51-9.
46. Sartori MJ, Mezzano L, Lin S, Muñoz S, de Fabro SP. Role of placental alkaline phosphatase in the internalization of trypomatigotes of Trypanosoma cruzi into HEp2 cells. Trop Med Int Health 2003; 8:832-9.
47. Bellazi L, Germond S, Dupont C, et al. A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta. Placenta 2010; 31:764-9.
48. Lucarelli P, Scacchi R, Corbo RM, Benincasa A, Palmarino R. Human placental alkaline phosphatase electrophoretic alleles: quantitative studies. Am J Hum Genet 1982; 34:331-6.
49. Distefano G, Caruso M, La Malfa S, Gentile A, Wu S-B. High resolution melting analysis is a more sensitive and effective alternative to gel-based platforms in analysis of SSR-an example in citrus. PLoS One 2012; 7:e44202.
50. Nicklas JA, Noreault-Conti T, Buel E. Development of a fast, simple profiling method for sample screening using high resolution melting (HRM) of STRs. J Forensic Sci 2012; 57:478-88.