메뉴 건너뛰기




Volumn 19, Issue 5, 2012, Pages 513-519

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

Author keywords

folate; homocysteine; recurrent spontaneous abortion; single nucleotide polymorphism; SLC19A1

Indexed keywords

BIOLOGICAL MARKER; FOLIC ACID; GENOMIC DNA; HOMOCYSTEINE;

EID: 84860495699     PISSN: 19337191     EISSN: 19337205     Source Type: Journal    
DOI: 10.1177/1933719111426604     Document Type: Article
Times cited : (14)

References (42)
  • 1
    • 0025708282 scopus 로고
    • Recurrent miscarriage
    • Stirrat GM. Recurrent miscarriage. Lancet. 1990 ; 336 (8716). 673-675
    • (1990) Lancet , vol.336 , Issue.8716 , pp. 673-675
    • Stirrat, G.M.1
  • 2
    • 0028235122 scopus 로고
    • An informative protocol for the investigation of recurrent miscarriage: Preliminary experience of 500 consecutive cases
    • Clifford K, Rai R, Watson H, Regan L. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. Hum Reprod. 1994 ; 9 (7). 1328-1332 (Pubitemid 24224005)
    • (1994) Human Reproduction , vol.9 , Issue.7 , pp. 1328-1332
    • Clifford, K.1    Rai, R.2    Watson, H.3    Regan, L.4
  • 4
    • 0028802731 scopus 로고
    • Underlying disorders associated with severe early-onset preeclampsia
    • Dekker GA, de Vries JI, Doelitzsch PM, et al. Underlying disorders associated with severe early-onset preeclampsia. Am J Obstet Gynecol. 1995 ; 173 (4). 1042-1048
    • (1995) Am J Obstet Gynecol , vol.173 , Issue.4 , pp. 1042-1048
    • Dekker, G.A.1    De Vries, J.I.2    Doelitzsch, P.M.3
  • 6
    • 0027330937 scopus 로고
    • Hyperhomocysteinemia: A risk factor in women with unexplained recurrent early pregnancy loss
    • Wouters MG, Boers GH, Blom HJ, et al. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril. 1993 ; 60 (5). 820-825
    • (1993) Fertil Steril , vol.60 , Issue.5 , pp. 820-825
    • Wouters, M.G.1    Boers, G.H.2    Blom, H.J.3
  • 7
    • 0028220787 scopus 로고
    • Vitamin B-6 deficiency vs folate deficiency: Comparison of responses to methionine loading in rats
    • Miller JW, Nadeau MR, Smith D, Selhub J. Vitamin B-6 deficiency vs folate deficiency: comparison of responses to methionine loading in rats. Am J Clin Nutr. 1994 ; 59 (5). 1033-1039 (Pubitemid 24138376)
    • (1994) American Journal of Clinical Nutrition , vol.59 , Issue.5 , pp. 1033-1039
    • Miller, J.W.1    Nadeau, M.R.2    Smith, D.3    Selhub, J.4
  • 8
    • 0034846134 scopus 로고    scopus 로고
    • Homocysteine-lowering treatment: An overview
    • DOI 10.1517/14656566.2.9.1449
    • van Guldener C, Stehouwer CD. Homocysteine-lowering treatment: an overview. Expert Opin Pharmacother. 2001 ; 2 (9). 1449-1460 (Pubitemid 32827415)
    • (2001) Expert Opinion on Pharmacotherapy , vol.2 , Issue.9 , pp. 1449-1460
    • Van Guldener, C.1    Stehouwer, C.D.A.2
  • 9
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995 ; 10 (1). 111-113
    • (1995) Nat Genet , vol.10 , Issue.1 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 10
    • 0031687887 scopus 로고    scopus 로고
    • A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    • DOI 10.1006/mgme.1998.2714
    • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998 ; 64 (3). 169-172 (Pubitemid 28453294)
    • (1998) Molecular Genetics and Metabolism , vol.64 , Issue.3 , pp. 169-172
    • Weisberg, I.1    Tran, P.2    Christensen, B.3    Sibani, S.4    Rozen, R.5
  • 11
    • 0028833677 scopus 로고
    • Homocysteine metabolism in pregnancies complicated by neural-tube defects
    • Mills JL, McPartlin JM, Kirke PN, et al. Homocysteine metabolism in pregnancies complicated by neural-tube defects. Lancet. 1995 ; 345 (8943). 149-151
    • (1995) Lancet , vol.345 , Issue.8943 , pp. 149-151
    • Mills, J.L.1    McPartlin, J.M.2    Kirke, P.N.3
  • 12
    • 77952668920 scopus 로고    scopus 로고
    • Variations in folate pathway genes are associated with unexplained female infertility
    • Altmae S, Stavreus-Evers A, Ruiz JR, et al. Variations in folate pathway genes are associated with unexplained female infertility. Fertil Steril. 2010 ; 94 (1). 130-137
    • (2010) Fertil Steril , vol.94 , Issue.1 , pp. 130-137
    • Altmae, S.1    Stavreus-Evers, A.2    Ruiz, J.R.3
  • 13
    • 0031828880 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages
    • Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH, Eskes TK. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr. 1998 ; 128 (8). 1336-1341 (Pubitemid 28361426)
    • (1998) Journal of Nutrition , vol.128 , Issue.8 , pp. 1336-1341
    • Nelen, W.L.D.M.1    Blom, H.J.2    Thomas, C.M.G.3    Steegers, E.A.P.4    Boers, G.H.J.5    Eskes, T.K.A.B.6
  • 17
    • 0005473368 scopus 로고
    • Serum-folic-acid in recurrent abortions
    • Martin RH, Harper TA, Kelso W. Serum-folic-acid in recurrent abortions. Lancet. 1965 ; 1 (7387). 670-672
    • (1965) Lancet , vol.1 , Issue.7387 , pp. 670-672
    • Martin, R.H.1    Harper, T.A.2    Kelso, W.3
  • 20
    • 1842410228 scopus 로고    scopus 로고
    • Serum levels of folate and cobalamin in women with recurrent spontaneous abortion
    • DOI 10.1093/humrep/12.10.2292
    • Sutterlin M, Bussen S, Ruppert D, Steck T. Serum levels of folate and cobalamin in women with recurrent spontaneous abortion. Hum Reprod. 1997 ; 12 (10). 2292-2296 (Pubitemid 27494046)
    • (1997) Human Reproduction , vol.12 , Issue.10 , pp. 2292-2296
    • Sutterlin, M.1    Bussen, S.2    Ruppert, D.3    Steck, T.4
  • 21
    • 67649341466 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice
    • Pickell L, Li D, Brown K, et al. Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. Birth Defects Res A Clin Mol Teratol. 2009 ; 85 (6). 531-541
    • (2009) Birth Defects Res A Clin Mol Teratol , vol.85 , Issue.6 , pp. 531-541
    • Pickell, L.1    Li, D.2    Brown, K.3
  • 22
    • 0030966370 scopus 로고    scopus 로고
    • RFC-1 gene expression regulates folate absorption in mouse small intestine
    • DOI 10.1074/jbc.272.17.11165
    • Chiao JH, Roy K, Tolner B, Yang CH, Sirotnak FM. RFC-1 gene expression regulates folate absorption in mouse small intestine. J Biol Chem. 1997 ; 272 (17). 11165-11170 (Pubitemid 27184111)
    • (1997) Journal of Biological Chemistry , vol.272 , Issue.17 , pp. 11165-11170
    • Chiao, J.H.1    Roy, K.2    Tolner, B.3    Yang, C.-H.4    Sirotnak, F.M.5
  • 23
    • 34547843568 scopus 로고    scopus 로고
    • Transcription regulatory polymorphism -43T>C in the 5′-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy
    • DOI 10.1007/s00296-007-0339-0
    • Chatzikyriakidou A, Georgiou I, Voulgari PV, Papadopoulos CG, Tzavaras T, Drosos AA. Transcription regulatory polymorphism -43T>C in the 5'-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy. Rheumatol Int. 2007 ; 27 (11). 1057-1061 (Pubitemid 47246584)
    • (2007) Rheumatology International , vol.27 , Issue.11 , pp. 1057-1061
    • Chatzikyriakidou, A.1    Georgiou, I.2    Voulgari, P.V.3    Papadopoulos, C.G.4    Tzavaras, T.5    Drosos, A.A.6
  • 25
    • 0242525248 scopus 로고    scopus 로고
    • Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype
    • DOI 10.1034/j.1399-0004.2003.00161.x
    • Relton CL, Wilding CS, Jonas PA, Lynch SA, Tawn EJ, Burn J. Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype. Clin Genet. 2003 ; 64 (5). 424-428 (Pubitemid 37406892)
    • (2003) Clinical Genetics , vol.64 , Issue.5 , pp. 424-428
    • Relton, C.L.1    Wilding, C.S.2    Jonas, P.A.3    Lynch, S.A.4    Tawn, E.J.5    Burn, J.6
  • 27
    • 38649093595 scopus 로고    scopus 로고
    • Distinct association of SLC19A1 polymorphism -43T>C with red cell folate levels and of MTHFR polymorphism 677C>T with plasma folate levels
    • Chatzikyriakidou A, Vakalis KV, Kolaitis N, et al. Distinct association of SLC19A1 polymorphism -43T>C with red cell folate levels and of MTHFR polymorphism 677C>T with plasma folate levels. Clin Biochem. 2008 ; 41 (3). 174-176
    • (2008) Clin Biochem , vol.41 , Issue.3 , pp. 174-176
    • Chatzikyriakidou, A.1    Vakalis, K.V.2    Kolaitis, N.3
  • 29
    • 84981812991 scopus 로고
    • The role of folic acid in pregnancy; With particular reference to anaemia, abruption and abortion
    • Hibbard BM. The role of folic acid in pregnancy; with particular reference to anaemia, abruption and abortion. J Obstet Gynaecol Br Commonw. 1964 ; 71: 529-542
    • (1964) J Obstet Gynaecol Br Commonw , vol.71 , pp. 529-542
    • Hibbard, B.M.1
  • 30
    • 0343471524 scopus 로고    scopus 로고
    • Genetic risk factor for unexplained recurrent early pregnancy loss [1]
    • Nelen WL, Steegers EA, Eskes TK, Blom HJ. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet. 1997 ; 350 (9081). 861 (Pubitemid 27404349)
    • (1997) Lancet , vol.350 , Issue.9081 , pp. 861
    • Nelen, W.L.D.M.1    Steegers, E.A.P.2    Eskes, T.K.A.B.3    Blom, H.J.4
  • 31
    • 68549104398 scopus 로고    scopus 로고
    • The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women
    • Stanislawska-Sachadyn A, Mitchell LE, Woodside JV, et al. The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. Ann Hum Genet. 2009 ; 73 (pt 5). 484-491
    • (2009) Ann Hum Genet , vol.73 , Issue.PART 5 , pp. 484-491
    • Stanislawska-Sachadyn, A.1    Mitchell, L.E.2    Woodside, J.V.3
  • 32
    • 0033805360 scopus 로고    scopus 로고
    • A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
    • Chango A, Emery-Fillon N, de Courcy GP, et al. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab. 2000 ; 70 (4). 310-315
    • (2000) Mol Genet Metab , vol.70 , Issue.4 , pp. 310-315
    • Chango, A.1    Emery-Fillon, N.2    De Courcy, G.P.3
  • 34
    • 24744443273 scopus 로고    scopus 로고
    • G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism
    • DOI 10.1016/j.lfs.2005.02.029, PII S0024320505005333
    • Yates Z, Lucock M. G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism. Life Sci. 2005 ; 77 (22). 2735-2742 (Pubitemid 41297860)
    • (2005) Life Sciences , vol.77 , Issue.22 , pp. 2735-2742
    • Yates, Z.1    Lucock, M.2
  • 35
    • 84856238353 scopus 로고    scopus 로고
    • The reduced folate carrier-1 (RFC1 696T>C) polymorphism is associated with spontaneously aborted embryos in Koreans
    • Jeon YJ, Choi YS, Rah HC, et al. The reduced folate carrier-1 (RFC1 696T>C) polymorphism is associated with spontaneously aborted embryos in Koreans. Genes Genom. 2011 ; 33 (3). 223-228
    • (2011) Genes Genom , vol.33 , Issue.3 , pp. 223-228
    • Jeon, Y.J.1    Choi, Y.S.2    Rah, H.C.3
  • 37
    • 34548726841 scopus 로고    scopus 로고
    • Silent SNPs: Impact on gene function and phenotype
    • DOI 10.2217/14622416.8.8.1075
    • Komar AA. Silent SNPs: impact on gene function and phenotype. Pharmacogenomics. 2007 ; 8 (8). 1075-1080 (Pubitemid 47423694)
    • (2007) Pharmacogenomics , vol.8 , Issue.8 , pp. 1075-1080
    • Komar, A.A.1
  • 39
    • 77956537712 scopus 로고    scopus 로고
    • A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein
    • Bartoszewski RA, Jablonsky M, Bartoszewska S, et al. A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein. J Biol Chem. 2010 ; 285 (37). 28741-28748
    • (2010) J Biol Chem , vol.285 , Issue.37 , pp. 28741-28748
    • Bartoszewski, R.A.1    Jablonsky, M.2    Bartoszewska, S.3
  • 40
    • 50649107252 scopus 로고    scopus 로고
    • Reduced folate carrier 80A - >g polymorphism, plasma folate, and risk of placental abruption
    • Ananth CV, Peltier MR, Moore DF, Kinzler WL, Leclerc D, Rozen RR. Reduced folate carrier 80A - >G polymorphism, plasma folate, and risk of placental abruption. Hum Genet. 2008 ; 124 (2). 137-145
    • (2008) Hum Genet , vol.124 , Issue.2 , pp. 137-145
    • Ananth, C.V.1    Peltier, M.R.2    Moore, D.F.3    Kinzler, W.L.4    Leclerc, D.5    Rozen, R.R.6
  • 41
    • 63249134703 scopus 로고    scopus 로고
    • Effect of methylenetetrahydrofolate reductase and thymidylate synthase enhancer region polymorphisms on the risk of idiopathic recurrent spontaneous abortion in a Korean population
    • Bae J, Choi DH, Kang MS, Cha SH, Oh D, Kim NK. Effect of methylenetetrahydrofolate reductase and thymidylate synthase enhancer region polymorphisms on the risk of idiopathic recurrent spontaneous abortion in a Korean population. Fertil Steril. 2009 ; 91 (4 suppl). 1560-1562
    • (2009) Fertil Steril , vol.91 , Issue.4 SUPPL. , pp. 1560-1562
    • Bae, J.1    Choi, D.H.2    Kang, M.S.3    Cha, S.H.4    Oh, D.5    Kim, N.K.6
  • 42
    • 33751186905 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase C677 T polymorphism and the risk of unexplained recurrent pregnancy loss: A meta-analysis
    • Ren A, Wang J. Methylenetetrahydrofolate reductase C677 T polymorphism and the risk of unexplained recurrent pregnancy loss: a meta-analysis. Fertil Steril. 2006 ; 86 (6). 1716-1722
    • (2006) Fertil Steril , vol.86 , Issue.6 , pp. 1716-1722
    • Ren, A.1    Wang, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.