Genome‐wide association study of HPV‐associated cervical cancer in Japanese women

Abstract

One of the important factors influencing the development of uterine cervical cancer is human papillomavirus infection in women. Usually, the infecting papillomavirus is eliminated from individuals; however, some retain the virus and this is believed to lead to the development of uterine cervical cancer. It is possible that virus elimination or persistent infection depends on an individual's genetic background. To identify single nucleotide polymorphisms associated with susceptibility to persistent infection or cervical cancer, a genome-wide association study was performed on 226 cases and 186 controls. Some of the single nucleotide polymorphisms showed a P-value < 10(-5); however, no polymorphisms that were significantly associated with susceptibility to cervical cancer were identified.

A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population

“…However, of these four cervical cancer susceptibility loci, the Affymetrix Genome-Wide SNP Array 6.0 (Affymetrix) we used in our GWAS did not include three SNPs (rs13117307, rs8067378 and rs4282438). To date, three GWAS regarding cervical cancer have been reported, [9][10][11] but there was no consistent association of SNPs across the different GWAS. 4 Because different SNP microarrays were used in these GWAS, coverage of genetic variants was non-identical between the studies.…”

“…[4][5][6][7][8] Recently, three genome-wide association studies (GWAS) have identified susceptibility loci for cervical cancer. [9][10][11] Our previous GWAS in the Japanese population did not identify susceptibility loci for cervical cancer. 11 However, two other GWAS in different populations successfully identified cervical cancer susceptibility loci.…”

“…[9][10][11] Our previous GWAS in the Japanese population did not identify susceptibility loci for cervical cancer. 11 However, two other GWAS in different populations successfully identified cervical cancer susceptibility loci. One GWAS in the Han Chinese population identified three cervical cancer susceptibility loci: 4q12 (rs13117307), 17q12 (rs8067378) and 6p21.32 (rs4282438 and rs9277952), 10 while the another study in a US population identified three cervical cancer susceptibility loci at 6p21.32 (rs2516448, rs9272143 and rs3117027).…”

“…The study participants, who were overlapped with our previous GWAS, 11 were 214 unrelated Japanese women with uterine cervical cancer (mean age, 52 years; age range, 29-70 years). By experienced pathologists at Nagasaki University Hospital, all tumor samples were diagnosed as invasive squamous cell carcinoma, before or after surgery.…”

“…By experienced pathologists at Nagasaki University Hospital, all tumor samples were diagnosed as invasive squamous cell carcinoma, before or after surgery. 11 Overall, 288 cancer-free women, who had no abnormal cytology of the uterine cervix, were used as the control population. There was no significant difference in age between 214 cases of invasive cervical cancer and 288 cancer-free control women.…”