Variants of EVER1 and EVER2 (TMC6 and TMC8) and human papillomavirus status in patients with mucosal squamous cell carcinoma of the head and neck.
There is a growing association of human papillomavirus (HPV) with some cases of mucosal squamous cell carcinoma of the head and neck (HNSCC), particularly of the oropharynx. Persistent oral HPV infection is believed to increase the likelihood of malignancy, and it is possible that host genetic factors can determine susceptibility to persistent HPV infection. Polymorphisms in the two EV genes (EVER1 and EVER2, also known as transmembrane channel protein (TMC) 6 and 8) have been identified as strong candidate genes, since a small number of critical mutations in these genes have been shown to cause profound and florid skin HPV infections, and some of them have been linked to susceptibility to cervical cancer.



We sought to determine whether there was a difference in the frequency of single nucleotide polymorphisms (SNPs) in EVER1 (rs2613516, rs12449858) and EVER2 (rs7205422, rs12452890) between HNSCC patients with HPV-positive and HPV-negative tumors, and healthy controls. We used logistic regression to analyze SNPs in 219 patients with histologically confirmed primary SCC of the oropharynx, oral cavity, hypopharynx, or larynx, and 321 healthy controls.



We did not find any associations with the EVER1/EVER2 SNPs and HPV status or being a HNSCC case or a control.



The present data do not provide evidence for a role of genetic variations in EVER1 or EVER2 for HPV status of mucosal HNSCC or between HNSCC patients and controls.
Department of Population Health, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD, 4006, Australia. Annika.Antonsson@qimrberghofer.edu.au.
Annika
A
Antonsson
Statistical Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Matthew H
MH
Law
Department of Population Health, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD, 4006, Australia.
Rachel E
RE
Neale
Princess Alexandra Hospital, Brisbane, QLD, Australia.
William B
WB
Coman
Princess Alexandra Hospital, Brisbane, QLD, Australia.
David I
DI
Pryor
Princess Alexandra Hospital, Brisbane, QLD, Australia.
Sandro V
SV
Porceddu
Department of Population Health, QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, QLD, 4006, Australia.
David C
DC
Whiteman
D000328:Adult; D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000821:virology; D016022:Case-Control Studies; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000821:virology; D006801:Humans; D007822:Laryngeal Neoplasms / Q000235:genetics* / Q000821:virology; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics* / Q000821:virology; D009154:Mutation; D030361:Papillomavirus Infections / Q000235:genetics* / Q000821:virology; D010610:Pharyngeal Neoplasms / Q000235:genetics* / Q000821:virology; D020641:Polymorphism, Single Nucleotide; D000077195:Squamous Cell Carcinoma of Head and Neck
D008565:Membrane Proteins; C470314:TMC6 protein, human; C470315:TMC8 protein, human
EVER genes; HPV; Head and neck cancer; TMC6; TMC8