The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes

Genes and Nutrition

Volumn 9, Issue 3, 2014, Pages

  Cao, Yunlei ^a,b   Zhang, Zhaofeng ^a,b   Zheng, Yanmin ^c   Yuan, Wei ^a,b   Wang, Jian ^a,b   Liang, Hong ^a,b   Chen, Jianping ^a,b   Du, Jing ^a,b   Shen, Yueping ^c  

^a FUDAN UNIVERSITY   (China)

^b SHANGHAI INSTITUTE OF PLANNED PARENTHOOD RESEARCH   (China)

^c SOOCHOW UNIVERSITY   (China)

Author keywords

Folic acid; Homocysteine; MTHFR; MTRR; Polymorphism; SLC19A1

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); FOLIC ACID;

ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HAPLOTYPE; HUMAN; MTHFR GENE; PROSPECTIVE STUDY; RECURRENT ABORTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SLC19A1 GENE; SPONTANEOUS ABORTION; VITAMIN METABOLISM; VITAMIN SUPPLEMENTATION;

EID: 84899069575     PISSN: 15558932     EISSN: 18653499     Source Type: Journal    
DOI: 10.1007/s12263-014-0402-x     Document Type: Article

References (43)

1. Altmae S, Stavreus-Evers A, Ruiz JR, Laanpere M, Syvanen T, Yngve A et al (2010) Variations in folate pathway genes are associated with unexplained female infertility. Fertil Steril 94(1):130-137
2. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2):263-265 (Pubitemid 40202029)
3. Cao YL, Xu JH, Zhang ZF, Huang XL, Zhang AP, Wang J et al (2013) Association study between methylenetetrahydrofolate reductase polymorphisms and unexplained recurrent pregnancy loss: a meta-analysis. Gene 514(2):105-111
4. Chango A, Emery-Fillon N, de Courcy GP, Lambert D, Pfister M, Rosenblatt DS et al (2000) A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab 70(4):310-315
5. Coulam CB, Clark DA, Beer AE, Kutteh WH, Silver R, Kwak J et al (1997) Current clinical options for diagnosis and treatment of recurrent spontaneous abortion. Clinical guidelines recommendation committee for diagnosis and treatment of recurrent spontaneous abortion. Am J Reprod Immunol 38(2):57-74
6. Dasarathy J, Gruca LL, Bennett C, Parimi PS, Duenas C, Marczewski S et al (2010) Methionine metabolism in human pregnancy. Am J Clin Nutr 91(2):357-365
7. De Marco P, Calevo MG, Moroni A, Merello E, Raso A, Finnell RH et al (2003) Reduced folate carrier polymorphism (80A->G) and neural tube defects. Eur J Hum Genet 11(3):245-252 (Pubitemid 36511863)
8. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25(2):115-121
9. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10(1):111-113
10. Gabriel S, Ziaugra L, Tabbaa D (2009) SNP genotyping using the Sequenom MassARRAY iPLEX platform. Curr Protoc Hum Genet 2:2-12
11. Goddijn-Wessel TA, Wouters MG, van de Molen EF, Spuijbroek MD, Steegers-Theunissen RP, Blom HJ et al (1996) Hyperhomocysteinemia: a risk factor for placental abruption or infarction. Eur J Obstet Gynecol Reprod Biol 66(1):23-29 (Pubitemid 26150043)
12. Hernandez-Diaz S, Werler MM, Walker AM, Mitchell AA (2000) Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med 343(22):1608-1614 (Pubitemid 32162984)
13. Hohlagschwandtner M, Unfried G, Heinze G, Huber JC, Nagele F, Tempfer C (2003) Combined thrombophilic polymorphisms in women with idiopathic recurrent miscarriage. Fertil Steril 79(5):1141-1148 (Pubitemid 36547852)
14. Kim JH, Jeon YJ, Lee BE, Kang H, Shin JE, Choi DH et al (2013) Association of methionine synthase and thymidylate synthase genetic polymorphisms with idiopathic recurrent pregnancy loss. Fertil Steril 99(6):1674-1680
15. Klai S, Fekih-Mrissa N, El Housaini S, Kaabechi N, Nsiri B, Rachdi R et al (2011) Association of MTHFR A1298C polymorphism (but not of MTHFR C677T) with elevated homocysteine levels and placental vasculopathies. Blood Coagul Fibrinolysis 22(5):374-378
16. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S (2002) Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update 8(5):463-481 (Pubitemid 35175207)
17. Miller JW, Nadeau MR, Smith D, Selhub J (1994) Vitamin B-6 deficiency vs folate deficiency: comparison of responses to methionine loading in rats. Am J Clin Nutr 59(5):1033-1039 (Pubitemid 24138376)
18. Mtiraoui N, Zammiti W, Ghazouani L, Braham NJ, Saidi S, Finan RR et al (2006) Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy losses. Reproduction 131(2):395-401 (Pubitemid 43273699)
19. Nair RR, Khanna A, Singh K (2012) MTHFR C677T polymorphism and recurrent early pregnancy loss risk in north Indian population. Reprod Sci 19(2):210-215
20. Nair RR, Khanna A, Singh R, Singh K (2013) Association of maternal and fetal MTHFR A1298C polymorphism with the risk of pregnancy loss: a study of an Indian population and a meta-analysis. Fertil Steril 99(5):1311-1318
21. Nelen WL, Steegers EA, Eskes TK, Blom HJ (1997) Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet 350(9081):861 (Pubitemid 27404349)
22. Nelen WL, Bulten J, Steegers EA, Blom HJ, Hanselaar AG, Eskes TK (2000) Maternal homocysteine and chorionic vascularization in recurrent early pregnancy loss. Hum Reprod 15(4):954-960 (Pubitemid 30192752)
23. O'Callaghan ME, Maclennan AH, Gibson CS, McMichael GL, Haan EA et al (2012) Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study. Pediatrics 129(2):414-423
24. Ozdemir O, Yenicesu GI, Silan F, Koksal B, Atik S, Ozen F et al (2012) Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Genet Test Mol Biomarkers 16(4):279-286
25. Practice Committee of American Society for Reproductive Medicine (2013) Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertil Steril 99(1):63
26. Rah H, Choi YS, Jeon YJ, Choi Y, Cha SH, Choi DH et al (2012) Solute Carrier Family 19, member 1 (SLC19A1) polymorphisms (-43T>C, 80G>A, and 696C>T), and haplotypes in idiopathic recurrent spontaneous abortion in a Korean population. Reprod Sci 19(5):513-519
27. Ray JG, Laskin CA (1999) Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: a systematic review. Placenta 20(7):519-529 (Pubitemid 29391295)
28. Reidy JA (1987) Folate- and deoxyuridine-sensitive chromatid breakage may result from DNA repair during G2. Mutat Res 192(3):217-219
29. Relton CL, Wilding CS, Jonas PA, Lynch SA, Tawn EJ, Burn J (2003) Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype. Clin Genet 64(5):424-428 (Pubitemid 37406892)
30. Scholl OT, Johnson WG (2000) Folic acid: influence on the outcome of pregnancy. Am J Clin Nutr 71(5 Suppl):1295S-1303S
31. Shi YY, He L (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 15(2):97-98 (Pubitemid 41653949)
32. Smits P, Thien T (1991) Hypertension. Risk factor in heart and vascular diseases. Ned Tijdschr Tandheelkd 98(11):439-442
33. Stanislawska-Sachadyn A, Mitchell LE, Woodside JV, Buckley PT, Kealey C, Young IS et al (2009) The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. Ann Hum Genet 73(Pt 5):484-491
34. Stern LL, Mason JB, Selhub J, Choi SW (2000) Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene. Cancer Epidemiol Biomarkers Prev 9(8):849-853 (Pubitemid 30660060)
35. Taparia S, Gelineau-van Waes J, Rosenquist TH, Finnell RH (2007) Importance of folate-homocysteine homeostasis during early embryonic development. Clin Chem Lab Med 45(12):1717-1727 (Pubitemid 350232973)
36. Unfried G, Griesmacher A, Weismuller W, Nagele F, Huber JC, Tempfer CB (2002) The C677T polymorphism of the methylenetetrahydrofolate reductase gene and idiopathic recurrent miscarriage. Obstet Gynecol 99(4):614-619 (Pubitemid 34246300)
37. van Guldener C, Stehouwer CD (2001) Homocysteine-lowering treatment: an overview. Expert Opin Pharmacother 2(9):1449-1460
38. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64(3):169-172 (Pubitemid 28453294)
39. Wenstrom KD, Johanning GL, Owen J, Johnston KE, Acton S, Tamura T (2000) Role of amniotic fluid homocysteine level and of fetal 5, 10- methylenetetrahydrofolate reductase genotype in the etiology of neural tube defects. Am J Med Genet 90(1):12-16 (Pubitemid 30010823)
40. Whetstine JR, Gifford AJ, Witt T, Liu XY, Flatley RM, Norris M et al (2001) Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers. Clin Cancer Res 7(11):3416-3422 (Pubitemid 33069975)
41. Wouters MG, Boers GH, Blom HJ, Trijbels FJ, Thomas CM, Borm GF et al (1993) Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril 60(5):820-825
42. Yajnik CS, Deshmukh US (2012) Fetal programming: maternal nutrition and role of one-carbon metabolism. Rev Endocr Metab Disord 13(2):121-127
43. Younis JS, Ohel G, Brenner B, Ben Ami M (1997) Familial thrombophilia - the scientific rationale for thrombophylaxis in recurrent pregnancy loss. Hum Reprod 12(7):1389-1390 (Pubitemid 27373182)