Related Experiment Video
Updated: Jun 24, 2026

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Variations in folate pathway genes are associated with unexplained female infertility
Signe Altmäe1, Anneli Stavreus-Evers, Jonatan R Ruiz
1Department of Clinical Science, Division of Obstetrics and Gynecology, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. signe.altmae@ki.se
Objective:
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.
Related Concept Videos
Infertility in Females
Endometriosis, a condition characterized by abnormal growth of endometrial...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Principles of Pharmacogenetics: Types of Genetic Variants
Infertility in Males
Genetic Variation
Genes exist in different versions called alleles, which...
Oogenesis

