Abstract
Genetic epidemiological studies show that genetic factors contribute significantly to cervical cancer carcinogenesis. Several genome-wide association studies (GWAS) have revealed novel genetic variants associated with cervical cancer susceptibility. We aim to replicate 4 GWAS-identified single nucleotide polymorphisms (SNPs), which were associated with invasive cervical cancer in Chinese women, in a Taiwanese population. The rs13117307 C/T, rs8067378 A/G, rs4282438 G/T, and rs9277952 A/G SNPs were genotyped in 507 women with cervical squamous cell carcinoma (CSCC) and 432 age/sex matched healthy controls by using TaqMan PCR Assay. Human papillomavirus (HPV) DNA test and typing were performed in CSCC patients. Only the rs4282438 SNP was found to be significantly associated (G allele, odds ratio [OR] = 0.67, P = 1.5 × 10−5). This protective association remained in HPV-16 positive CSCC subgroup (G allele, OR = 0.60, P = 1.2 × 10−5). In conclusion, our study confirms the association of rs4282438 SNP with CSCC in a Taiwanese population. However, larger sample sets of other ethnic groups are required to confirm these findings.
Highlights
Carcinoma of the cervix is the fourth most frequent cancer in women globally
The genotype and allele frequencies of all studied single nucleotide polymorphisms (SNPs) were successfully determined in 432 controls and 507 cervical squamous cell carcinoma (CSCC) patients (Tables 1–3)
No deviation from Hardy-Weinberg equilibrium was observed in the controls except for SNP rs8067378
Summary
Carcinoma of the cervix is the fourth most frequent cancer in women globally. It is a serious health issue in Taiwan, with approximately 2700 new cases were reported each year[1]. Genome-wide association studies (GWAS) are a systematic approach to identify genes associated with human diseases This method examines the genetic variations across the genome in different individuals to find out variations that may influence the risk of developing a certain disease. A complex disorder, has been investigated by GWAS to search potentially associated SNPs. A total of 3 cervical cancer GWAS have been reported in Swedish, Chinese, and mixed European populations and associated cervical cancer loci are at 6p21.3 (HLA Class I and II genes), 4q12 (EXOC1), and 17q12 (GSDMB)[5,6,7]. The reason of choosing the GWAS in the Chinese population for replication is that it included only invasive cervical cancer
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