title: Role of thrombotic risk factors in end-stage renal disease.
abstract: BACKGROUND
  Genetic polymorphisms that are found among factors of the coagulation cascade are factor V leiden mutation (FVL), prothrombin (PT), and methylenetetrahydrofolate reductase (MTHFR), reported for thrombotic complications. We have investigated the associations of these gene polymorphisms in patients with end-stage renal disease (ESRD).
  
  
  METHODS
  We genotyped 258 patients for FV G1691A, PT G20210A, and MTHFR (C677T, A1298C) gene by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and were compared with 569 healthy controls. Serum folate, total homocysteine (tHcys), and vitamin B(12) were measured in both patients with ESRD and controls.
  
  
  RESULTS
  No homozygous individuals for the mutant AA genotype of FVL G1691A were observed in this study. The frequency of the heterozygous genotypes was (11.2%), which was nearly 3 times higher than that observed in controls (3.2%), with a odds ratio of 3.87 (P = .0001, 95% CI = 2.11-7.11). PT G20210A mutation was missing in both patients and the controls. At MTHFR locus, TT genotype of C677T was present in 9.6% among ESRD, while CC genotype of A1298C was present in 11.7% of the ESRD. In control group, it was significantly low that is, 4.2% and 3.2%, respectively (P = .0034; OR = 2.44, 95% CI = 1.36-4.36 and P < .0001; OR = 4.03; 95% CI = 2.2-7.37). The combined analysis of the 2 genotypes showed further increased risk in ESRD ~15 folds. Further, the carrier of TT and CC genotypes of C677T and A1298C had significantly higher total homocysteine (tHcys) level than those with CC and AA genotypes (P < .001).
  
  
  CONCLUSIONS
  The carrier of FVL, TT genotype of C677T, and CC genotype of A1298C polymorphisms may act as risk factors for ESRD.
authors.affiliation: Department of Urology, CSSMU, Lucknow, Uttar Pradesh, India.
authors.forename: Gaurav
authors.initials: G
authors.lastname: Tripathi
authors.forename: Satya Narayan
authors.initials: SN
authors.lastname: Sankhwar
authors.forename: Raj Kumar
authors.initials: RK
authors.lastname: Sharma
authors.forename: Vinod Pandirikkal
authors.initials: VP
authors.lastname: Baburaj
authors.forename: Suraksha
authors.initials: S
authors.lastname: Agrawal
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D005165:Factor V / Q000235:genetics; D005260:Female; D005492:Folic Acid / Q000097:blood; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000453:epidemiology / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000145:classification / Q000453:epidemiology* / Q000235:genetics; D014805:Vitamin B 12 / Q000097:blood; D055815:Young Adult
chemical_list: D020413:3' Untranslated Regions; C095381:factor V Leiden; D006710:Homocysteine; D005165:Factor V; D011516:Prothrombin; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12