Rare Diseases Symptoms Automatic Extraction

Functional polymorphisms of caveolin-1 variants as potential biomarkers of esophageal squamous cell carcinoma.

[esophageal squamous cell carcinoma]

Abstract Objective: To investigate the association of caveolin-1 (CAV1) genetic variants (C239A (rs1997623), G14713A (rs3807987), G21985A (rs12672038), T29107A (rs7804372)) with esophageal squamous cell carcinoma (ESCC) susceptibility. Methods: A total of 427 patients with ESCC and 427 healthy controls were genotyped using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Results: There were significant differences between patients and controls in distributions of their genotypes and allelic frequencies in G14713A and T29107A polymorphisms. Furthermore, haplotype analysis revealed that haplotypes CAAT and CAGT were associated with high risk for ESCC, while haplotype CGGA was protective against ESCC. Stratified analysis showed the associations between the SNPs (G14713A and T29107A) and ESCC risk were noteworthy among female patients and patients who never smoke or drank alcohol. Conclusions: Genetic polymorphisms of CAV1 G14713A and T29107A might affect an individual's susceptibility in developing ESCC, making them efficient potential genetic biomarkers for early detection of ESCC.

Diseases presenting "female patients" symptom

  • adrenomyeloneuropathy
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • cushing syndrome
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • lymphangioleiomyomatosis
  • oligodontia
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • trochlear dysplasia
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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