Identification of genetic variants in TNF receptor 2 which are associated with the development of cervical carcinoma

Abstract

Cervical cancer is one of the most common malignancies among women in India. Beside HPV, other factors present in host also put their role in the progression of cervical tumerogenesis. In present study, we screened 300 subjects to identify variations in TNFR2 gene by PCR-dHPLC method followed by direct sequencing. We identified six known and four novel variations in six different exons of TNFR2 gene. Out of these identified variations, five known variations were found to be significantly associated with the risk of cervical cancer (p < 0.0001). On construction of haplotypes, one haplotype (TTGCC) was emerged as a major protective type while two (CAAGC + CTGCC) were revealed as major risk haplotypes. In conclusion, postmenopausal women having CAAGC + CTGCC haplotypes in TNFR2 gene along with HPV infection and tobacco consumption may lead to the development of cervical cancer.

Keywords:

• Cervical cancer
• dHPLC
• HPV
• polymorphism
• TNFR2

Acknowledgements

We would like to thank Dr. Sudha Salhan, Department of Obstetrics & Gynaecology, Safdarjung Hospital, New Delhi and Dr. Swaraj Batra, Department of Obstetrics & Gynaecology, LNJP Hospital, New Delhi, India for providing clinical samples and valuable feedback for the manuscript, Dr. Suresh Bhambhani, Division of Cytopathology for pathological analysis of the clinical sample. We would also like to thank the patients and their family members.

Disclosure statement

No competing financial interests exist.

Funding information

This work was supported by core funding of ICPO (ICMR) to MB. PS is grateful to Indian Council of Medical Research (ICMR) for Senior Research Fellowship.