title: ITPR3 gene haplotype is associated with cervical squamous cell carcinoma risk in Taiwanese women.
abstract: Host immunogenetic background plays an important role in human papillomavirus (HPV) infection and cervical cancer development. Inositol 1,4,5-triphosphate receptor type 3 (ITPR3) is essential for both immune activation and cancer pathogenesis. We aim to investigate if ITPR3 genetic polymorphisms are associated with the risk of cervical cancer in Taiwanese women. ITPR3 rs3748079 A/G and rs2229634 C/T polymorphisms were genotyped in a hospital-based study of 462 women with cervical squamous cell carcinoma (CSCC) and 921 age-matched healthy control women. The presence and genotypes of HPV in CSCC was determined. No significant association of individual ITPR3 variants were found among controls, CSCC, and HPV-16 positive CSCC. However, we found a significant association of haplotype AT between CSCC and controls (OR = 2.28, 95% CI 1.31-3.97, P = 2.83 × 10-3) and the OR increased further in CSCC patients infected with HPV-16 (OR = 2.89, 95% CI 1.55-5.37, P = 4.54 × 10-4). The linkage disequilibrium analysis demonstrated that ITPR3 association with CSCC was independent of HLA-DRB1 alleles. In conclusion, these findings suggest that AT haplotype in the ITPR3 gene may serve as a potential marker for genetic susceptibility to CSCC.
authors.affiliation: Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan.|Department of Gynecology and Obstetrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan.
authors.forename: Yuh-Cheng
authors.initials: YC
authors.lastname: Yang
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors.forename: Tzu-Yang
authors.initials: TY
authors.lastname: Chang
authors.affiliation: Department of Gynecology and Obstetrics, MacKay Memorial Hospital, Taipei City, Taiwan.
authors.forename: Tze-Chien
authors.initials: TC
authors.lastname: Chen
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors.forename: Wen-Shan
authors.initials: WS
authors.lastname: Lin
authors.affiliation: Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.
authors.forename: Shih-Chuan
authors.initials: SC
authors.lastname: Chang
authors.affiliation: Department of Pediatric Endocrinology, MacKay Children's Hospital, Taipei City, Taiwan.|Department of Medical Research, MacKay Memorial Hospital, New Taipei City, Taiwan.|Departments of Gynecology and Obstetrics, Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei City, Taiwan.|Institute of Biomedical Sciences Mackay Medical College, New Taipei City, Taiwan.|Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D014408:Biomarkers, Tumor / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000821:virology; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059811:HLA-DRB1 Chains / Q000235:genetics; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D052162:Human papillomavirus 16 / Q000472:pathogenicity; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors / Q000235:genetics*; D015810:Linkage Disequilibrium; D008875:Middle Aged; D016017:Odds Ratio; D030361:Papillomavirus Infections / Q000821:virology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D013624:Taiwan; D002583:Uterine Cervical Neoplasms / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000821:virology
chemical_list: D014408:Biomarkers, Tumor; D059811:HLA-DRB1 Chains; C506929:ITPR3 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors
keywords: HPV; ITPR3; cervical cancer; immunity; polymorphism