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Genetic variation in CD83 and risks of cervical and vulvar cancers: a population-based case-control study.

ABSTRACT: The CD83 glycoprotein is a marker of dendritic cell maturation that may contribute to the T cell response to oncogenic human papillomavirus (HPV) infection. Whether single nucleotide polymorphisms (SNPs) in CD83 influence the risk of HPV-related genital cancers has not been adequately studied. We investigated whether the common genetic variation of the CD83 region was associated with the risks of cervical and vulvar cancers in a population-based case-control study conducted in the Seattle-Puget Sound Region.A total of 17 tagSNPs were genotyped in the CD83 region of 886 cervical cases, 517 vulvar cases and 1100 controls. Odds ratio (OR) and 95% confidence intervals (CI) were computed to assess the risk of cervical and vulvar cancers. The interaction between the tagSNPs and cigarette smoking was also explored.TagSNPs in the CD83 chromosomal region were not associated with risk of either cervical or vulvar cancer. TagSNP rs853360 was associated with a decreased risk of cervical squamous cell carcinoma (SCC) (OR=0.80; 95% CI: 0.66-0.98).Our results do not suggest that the common genetic variation of CD83 is related to cervical or vulvar cancers. The association between tagSNP rs853360 and risk of cervical SCC is likely to be due to chance. If larger or pooled studies confirm our results, CD83 has little or no influence in the risk of HPV-related cancers.

SUBMITTER: Bodelon C

PROVIDER: S-EPMC3727898 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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Genetic variation in CD83 and risks of cervical and vulvar cancers: a population-based case-control study.

Bodelon Clara C Madeleine Margaret M MM Johnson Lisa G LG Du Qin Q Malkki Mari M Petersdorf Effie W EW Schwartz Stephen M SM

Gynecologic oncology 20111128 3

<h4>Objectives</h4>The CD83 glycoprotein is a marker of dendritic cell maturation that may contribute to the T cell response to oncogenic human papillomavirus (HPV) infection. Whether single nucleotide polymorphisms (SNPs) in CD83 influence the risk of HPV-related genital cancers has not been adequately studied. We investigated whether the common genetic variation of the CD83 region was associated with the risks of cervical and vulvar cancers in a population-based case-control study conducted in ...[more]

PMID: 22134374

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Project description:OBJECTIVES:Studies have suggested that polymorphisms in genes involved in immune recognition and antigen presentation are associated with cervical cancer risk. We sought to replicate a recent study which reported an association between specific SNPs on CD83 and cervical cancer and to further explore whether effects varied by age, clinical stage (in situ versus invasive), and histology (squamous carcinomas versus adenocarcinomas). METHODS:We evaluated the association between SNPs on CD83 and cervical cancer in a multicenter case-control study of cervical cancer conducted in the Eastern United States (263 cases, 307 controls), focusing on the five SNPs (RS9296925, RS853360, RS9230, RS9370729, RS750749) previously found to be associated with cervical cancer. We also pooled data from the Eastern U.S. (263 cases) with those from the original report (377 cases) to assess the effects of CD83 on the age at diagnosis, disease stage, and histology. Risk estimates (ORs) and 95% confidence intervals were estimated using logistic regression; trend tests were performed under an additive model. RESULTS:Consistent with the original report, carriers of the CT or CC genotypes for one of the five CD83 SNPs evaluated (rs750749) demonstrated a 30% and 50% reduction in disease risk, relative to carriers of the more common TT genotype (p-trend=0.02). Two additional SNPs also resulted in consistent findings (rs9296925: p-trend=0.07 and rs9370729: p-trend=0.08), although the effects observed did not reach statistical significance at the 0.05 level. Pooled evaluation of cases from the two aforementioned studies suggested differences in the distribution of susceptibility alleles by histology; adenocarcinoma cases were more likely to be carriers of the susceptibility alleles for SNP rs9370729 (p-trend=0.02) and SNP rs750749 (p-trend=0.09). No differences were observed in the age or stage of diagnosis of carriers for CD83 susceptibility alleles relative to non-carriers. CONCLUSIONS:We confirm an association between CD83 polymorphisms and cervical cancer and suggest the possibility that CD83-disease associations might be heterogenous by tumor histology.

Project description:BackgroundHypertension affects > 18.8% of adults in China. Indeed, hypertension is the most prevalent risk factor for cardiovascular morbidity and mortality worldwide. Genetic variation is thought to contribute to the etiology of hypertension. NEDD4L is a candidate gene for hypertension, both functionally and genetically. The purpose of the current study was to investigate the relationship between the variation in NEDD4L and essential hypertension in Kazakh, which is a relatively isolated population with a pure genetic background and is an ideal population to study genetic mechanisms of hypertension.MethodsWe screened the promoter and exons of NEDD4L in 94 Kazakh hypertensive individuals to identify representative variations. Then, by genotyping the representative variations in the Kazakh general population, a case-control study was conducted.ResultsBy systemically screening variations of NEDD4L, we did not identify any functional mutations in NEDD4L. A new common variation (296921-296923delTTG), which is not found in the NCBI database, was identified. Three representative variations (296921-296923delTTG, rs2288774, and rs2288775) were successfully genotyped in the Kazakh general population. The distribution of the dominant model (AA vs. AG+GG) of rs2288775, the additive model, and the recessive model (II+ID vs. DD) of 296921-296923delTTG differed significantly between the cases and controls in females (P = 0.040, P = 0.024, and P = 0.007, respectively). After adjusting for confounding factors, logistic regression analysis showed that rs2288775 (in the dominant model) and 296921-296923delTTG (in the recessive model) were significantly associated with hypertension (rs2288775: OR = 1.479, 95% CI = 1.011-2.064, p = 0.044; and 296921-296923delTTG: OR = 1.908, 95% CI = 1.020-3.568, p = 0.043) in females. The frequency of the D-C-G haplotype was significantly higher for cases than for controls in females (P = 0.020). There was a significant interaction between the NEDD4L genotype and gender (P for interaction: 0.045 for rs2288775 and 0.064 for 296921-296923delTTG), but there was no significant interaction between the NEDD4L genotype and smoking (P for interaction: 0.616 for rs2288775 and 0.447 for 296921-296923delTTG). For females and total participants, the urinary Na excretion rate was significantly lower in the DD than the I/I+I/D individuals (P = 0.032 and P = 0.027 respectively).ConclusionThe genetic variations of NEDD4L may be associated with essential hypertension in females in the Kazakh general population.

Dataset Information

Genetic variation in CD83 and risks of cervical and vulvar cancers: a population-based case-control study.

Publications

Genetic variation in CD83 and risks of cervical and vulvar cancers: a population-based case-control study.

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