Hypoxia responsiveness linked variant in EGLN1 gene is enriched in oral cancer patients

• Published in: Archives of oral biology Vol. 116; p. 104767
• Main Authors: Francis, Immaculate, Arcot, Madhuri, Mohiyuddin S.M., Azeem, Balakrishna, Sharath
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.08.2020
• Subjects: Dentistry; EGLN1 gene; Genetic Association Study; Hypoxia; Oral cancer; Single nucleotide polymorphism; Hypoxia; Single nucleotide polymorphism; Oral cancer; EGLN1 gene; Genetic Association Study
• ISSN: 0003-9969; 1879-1506
• DOI: 10.1016/j.archoralbio.2020.104767

•Hypoxia is a hallmark of cancer.•EGLN1 gene variant lowers responsiveness to hypoxia.•Association between EGLN1 gene variant and oral cancer was assessed.•Risk allele frequency was higher in oral cancer patients than in healthy controls.•Genetic defect in hypoxia responsiveness predisposed to oral cancer. The aim of this study was to determine the association of EGLN1 gene variant SNP rs479200 (T > C) with the risk of oral cancer. 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. 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). 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.