Genetic polymorphisms of the transporter associated with antigen processing are associated with cervical neoplasia in Korean women

Cervical neoplasia is one of the most prevalent malignant neoplasms worldwide. Ribonucleotide reductase 1 (RRM1) is thought to play an essential role in modulating the development and progression of cervical neoplasia. Two novel genetic polymorphisms, RRM1 −756T>C and −269 C>A, are significantly correlated with RRM1 expression. Some epidemiological studies have demonstrated that genetic variants play a crucial role in susceptibility to cervical cancer. The present study aimed to identify the genetic polymorphisms RRM1 −756T>C and −269 C>A in patients with cervical neoplasia and healthy controls. In total, 493 subjects, comprising 324 healthy controls and 169 patients with cervical neoplasia, were enrolled for this study. The allelic discrimination of the RRM1 −756T>C (rs11030918) and −269C>A (rs12806698) polymorphisms was assessed using the ABI StepOne™ real-time polymerase chain reaction system and analyzed using Software Design Specification (SDS), Version 3.0, software with TaqMan assays. The risk of cervical cancer was examined, revealing adjusted odds ratios and 95% confidence intervals of 1.25 [0.51, 3.08] and 1.09 [0.43, 2.78] for individuals with CC alleles of RRM1 −756T>C and for individuals with AA alleles of RRM1 −269C>A genetic polymorphisms, respectively, compared to individuals with wild-type RRM1 genetic polymorphisms. No significant genetic interaction effect was observed in susceptibility to cervical neoplasia, and no association was found between genetic polymorphisms and clinical statuses of invasive cervical cancer. The genetic polymorphisms RRM1 −756T>C and −269C>A may not be a factor for susceptibility to cervical neoplasia.

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Human papillomavirus genotyping using HPV DNA chip analysis in Korean women

International Journal of Gynecological Cancer ◽

10.1111/j.1525-1438.2007.00871.x ◽

2007 ◽

Vol 17 (2) ◽

pp. 497-501 ◽

Cited By ~ 19

Author(s):

H. S. Lee ◽

K. M. Kim ◽

S. M. Kim ◽

Y. D. Choi ◽

J. H. Nam ◽

...

Keyword(s):

Human Papillomavirus ◽

High Risk ◽

Cervical Neoplasia ◽

Dna Chip ◽

Korean Women ◽

Hpv 16 ◽

Hpv Dna ◽

Hpv Genotypes ◽

High Risk Hpv ◽

Chip Analysis

This study was designed to investigate the genotypes of human papillomavirus (HPV) in Korean women who had abnormal cervical cytology and to evaluate the clinical accuracy of HPV DNA chip analysis for the diagnosis of cervical neoplasia. Liquid-based cytology preparations, HPV DNA chip analysis, and cervical biopsy were performed in 2358 women. High-risk HPV was identified in 23.5% of 1650 histologically confirmed normal samples (including cervicitis and squamous metaplasia) and in 81.8% of 708 samples with cervical intraepithelial neoplasia (CIN) and carcinoma (P< 0.01). The major prevalent high-risk HPV genotypes in 381 samples of CIN II/III were HPV-16, -58, -33, and -31, in order of prevalence rate (average overall, 78.0%), and HPV-16, -18, -58, and -33 (average overall, 81.2%) in 133 samples of squamous cell carcinoma (SCC). The infection rate of HPV-16 was significantly higher than that of other high-risk HPV genotypes in all normal, CIN, and SCC cases (P< 0.01) and increased with more advanced squamous cervical lesions (P< 0.01). The detection accuracy of high-risk HPV using HPV DNA chip analysis for CIN II or worse was as follows: sensitivity 84% (81–87%), specificity 72% (70–74%), positive predictive value 47% (44–50%), and negative predictive value 94% (92–95%). These results suggest that HPV DNA chip analysis may be a reliable diagnostic tool for the detection of cervical neoplasia and that there are geographic differences in the distribution of high-risk HPV genotypes.

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