title: Methylenetetrahydrofolate reductase polymorphism in childhood primary focal segmental glomerulosclerosis.
abstract: OBJECTIVE
  The purpose of this study was to evaluate the association between the methylenetetrahydrofolate reductase (MTHFR) C/T polymorphism and the prevalence and course of focal segmental glomerulosclerosis (FSGS) in our pediatric population.
  
  
  METHODS
  Genotypes for MTHFR were determined in 15 primary FSGS patients (male/female, 6/9) and 238 control subjects (male/female, 110/128) by the polymerase chain reaction and restriction fragment length polymorphism method.
  
  
  RESULTS
  For the whole group, the genotype frequencies (CC/CT/TT) of MTHFR in FSGS and control subjects were almost comparable. The TT genotype was associated with early onset of the disease as compared with the CC genotype. Furthermore, all the patients with the TT genotype had steroid-resistant FSGS and developed into end-stage renal failure, while those carrying either CC or CT genotype did not.
  
  
  CONCLUSIONS
  We speculate that the TT genotype may be associated with early development and progression of childhood FSGS. Confirmatory studies using larger and ethnically distinct populations are needed to reveal the role of homocysteine in FSGS with consideration of medical interventions.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Fukui Medical University, Fukui 910-1193, Japan.
authors.forename: Chaochun
authors.initials: C
authors.lastname: Zou
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
authors.forename: Masahiro
authors.initials: M
authors.lastname: Hiraoka
authors.forename: Jiang
authors.initials: J
authors.lastname: Mizu
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Todoroki
authors.forename: Yusei
authors.initials: Y
authors.lastname: Ohshima
authors.forename: Hideki
authors.initials: H
authors.lastname: Kimura
authors.forename: Kazuo
authors.initials: K
authors.lastname: Tsuzuki
authors.forename: Mitsufumi
authors.initials: M
authors.lastname: Mayumi
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005923:Glomerulosclerosis, Focal Segmental / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)