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ArtikelVariations in folate pathway genes are associated with unexplained female infertility  
Oleh: Altmae, Signe ; Stavreus-Evers, Anneli ; Ruiz, Jonatan R.
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 94 no. 01 (Jun. 2010), page 130-137.
Topik: Female infertility; homocysteine; MTHFR; FOLR1; TCN2; CTH; SLC19A1
Ketersediaan
  • Perpustakaan FK
    • Nomor Panggil: F02.K.2010.04
    • Non-tandon: 1 (dapat dipinjam: 0)
    • Tandon: tidak ada
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Isi artikelObjective To investigate associations between folate-metabolizing gene variations, folate status, and unexplained female infertility. Design An association study. Setting Hospital-based IVF unit and university-affiliated reproductive research laboratories. Patient(s) Seventy-one female patients with unexplained infertility. Intervention(s) Blood samples for polymorphism genotyping and homocysteine, vitamin B12, and folate measurements. Main Outcome Measure(s) Allele and genotype frequencies of the following polymorphisms: 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C/T, 1298A/C, and 1793G/A, folate receptor 1 (FOLR1) 1314G/A, 1816delC, 1841G/A, and 1928C/T, transcobalamin II (TCN2) 776C/G, cystathionase (CTH) 1208G/T and solute carrier family 19, member 1 (SLC19A1) 80G/A, and concentrations of plasma homocysteine, vitamin B12, and serum folate. Result(s) MTHFR genotypes 677CT and 1793GA, as well as 1793 allele A were significantly more frequent among controls than in patients. The common MTHFR wild-type haplotype (677, 1298, 1793) CAG was less prevalent, whereas the rare haplotype CCA was more frequent in the general population than among infertility patients. The frequency of SLC19A1 80G/A genotypes differed significantly between controls and patients and the A allele was more common in the general population than in infertile women. Plasma homocysteine concentrations were influenced by CTH 1208G/T polymorphism among infertile women. Conclusion(s) Polymorphisms in folate pathway genes could be one reason for fertility complications in some women with unexplained infertility.
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