title: TLR2∆22 (-196-174) significantly increases the risk of breast cancer in females carrying proline allele at codon 72 of TP53 gene: a case-control study from four ethnic groups of North Eastern region of India.
abstract: Breast cancer (BC) is the second most common cancer in women. In the North Eastern Region (NER) of India, BC is emerging as an important concern as evidenced by the data available from population and hospital-based cancer registries. Studies on genetic susceptibility to BC are important to understand the increase in the incidence of BC in NER. The present case control study was conducted to investigate the association between tumour suppressor gene TP53 codon 72 polymorphism and innate immune pathway gene TLR2∆22 (-196-174) polymorphism with BC in females of NER of India for the identification of novel biomarker of BC. Four hundred sixty-two histopathologically confirmed BC cases from four states of NER of India, and 770 healthy controls were included by organizing community surveys from the neighbourhood of cases. In our study, no significant association between TP53 codon 72 polymorphisms and the risk of BC was found. However, our study has shown that TP53 codon 72 polymorphism is an important effect modifier. In the present study it was found that females carrying 22 base-pair deletion in the promoter region of their TLR2 gene had two times (AOR= 2.18, 95 % CI 1.13-4.21, p=0.019 in dominant model; AOR= 2.17, 95 % CI 1.09-4.34, p=0.027 in co-dominant model) increased risk of BC whwn they also carry proline allele at codon 72 of their TP53 gene.
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: K Rekha
authors.initials: KR
authors.lastname: Devi
authors.affiliation: Civil Hospital, Aizawl Upper Bazar, Aizawl, Mizoram, India.
authors.forename: Saia
authors.initials: S
authors.lastname: Chenkual
authors.affiliation: Regional Cancer Centre, Agartala, Tripura, India.
authors.forename: Gautam
authors.initials: G
authors.lastname: Majumdar
authors.affiliation: Assam Medical College and Hospital, Dibrugarh, Assam, India.
authors.forename: Jishan
authors.initials: J
authors.lastname: Ahmed
authors.affiliation: Indian Council of Medical Research, New Delhi, India.
authors.forename: Tanvir
authors.initials: T
authors.lastname: Kaur
authors.affiliation: Civil Hospital, Aizawl Upper Bazar, Aizawl, Mizoram, India.
authors.forename: Jason C
authors.initials: JC
authors.lastname: Zonunmawia
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: Kaustab
authors.initials: K
authors.lastname: Mukherjee
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: Rup Kumar
authors.initials: RK
authors.lastname: Phukan
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: Jagdish
authors.initials: J
authors.lastname: Mahanta
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: S K
authors.initials: SK
authors.lastname: Rajguru
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India.
authors.forename: Debdutta
authors.initials: D
authors.lastname: Mukherjee
authors.affiliation: Regional Medical Research Centre, N.E. Region (Indian Council of Medical Research), Post Box #105, Dibrugarh, 786 001, Assam, India. kanwar_narain@hotmail.com.
authors.forename: Kanwar
authors.initials: K
authors.lastname: Narain
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D017209:Apoptosis; D001943:Breast Neoplasms / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D003062:Codon; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D007194:India; D008875:Middle Aged; D011392:Proline / Q000235:genetics; D017384:Sequence Deletion; D051195:Toll-Like Receptor 2 / Q000235:genetics* / Q000276:immunology; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D003062:Codon; C495342:TLR2 protein, human; C495901:TP53 protein, human; D051195:Toll-Like Receptor 2; D016159:Tumor Suppressor Protein p53; D011392:Proline
keywords: Apoptosis; Cell cycle; Gene-gene interaction; Inflammation; Transcription factor