RESUMEN
OBJECTIVE: The aim of this study was to determine the association of EGLN1 gene variant SNP rs479200 (T > C) with the risk of oral cancer. MATERIALS AND METHODS: A case-control study was conducted by involving 103 oral cancer patients and 206 age and gender-matched healthy controls. SNP rs479200 was genotyped by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: Minor allele frequency was 47 % in oral cancer patients and 35 % in healthy individual (P = 3.0 × 10-3, Odds ratio = 1.61). The association was highest under the additive genetic model (0.0005). CONCLUSIONS: Our results show that the EGLN1 gene variant SNP rs479200 is associated with the risk of developing oral cancer. This relationship highlights the significance of oxygen sensing in the pathophysiology of oral cancer.
Asunto(s)
Predisposición Genética a la Enfermedad , Prolina Dioxigenasas del Factor Inducible por Hipoxia , Neoplasias de la Boca , Estudios de Casos y Controles , Frecuencia de los Genes , Genotipo , Humanos , Hipoxia , Prolina Dioxigenasas del Factor Inducible por Hipoxia/genética , Neoplasias de la Boca/genética , Polimorfismo de Longitud del Fragmento de Restricción , Polimorfismo de Nucleótido SimpleRESUMEN
OBJECTIVES: Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evaluated the association of SNP rs479200 (T>C) with the risk of preeclampsia. METHODS: This case-control study involved 600 pregnant women of whom 300 were preeclamptic and 300 were normotensive. SNP rs479200 was genotyped by PCR-RFLP method. RESULT: Minor allele frequency was 44% in preeclamptic women and 53% in normotensive pregnant women (Pâ¯=â¯1.8â¯×â¯10-3; odds ratioâ¯=â¯1.43). The odds ratio was heterogeneous when compared after categorization of the preeclamptic group into clinical sub-groups. The association was significant with both mild (Pâ¯=â¯6.2â¯×â¯10-5) and severe (3.8â¯×â¯10-3) preeclampsia. However, the odds ratio was 0.52 for mild preeclampsia and 1.43 for severe preeclampsia. CONCLUSION: The minor allele of SNP rs479200 is associated with the predisposition to preeclampsia. This association underlines the importance of oxygen sensing in the pathogenesis of preeclampsia.