TY - JOUR
T1 - Nucleotide excision repair gene ERCC2 and ERCC5 variants increase risk of uterine cervical cancer
AU - Joo, Jungnam
AU - Yoon, Kyong Ah
AU - Hayashi, Tomonori
AU - Kong, Sun Young
AU - Shin, Hye Jin
AU - Park, Boram
AU - Kim, Young Min
AU - Hwang, Sang Hyun
AU - Kim, Jeongseon
AU - Shin, Aesun
AU - Kim, Joo Young
N1 - Publisher Copyright:
© 2016 by the Korean Cancer Association.
PY - 2016/4/1
Y1 - 2016/4/1
N2 - Purpose Defects in the DNA damage repair process can cause genomic instability and play an important role in cervical carcinogenesis. The purpose of this study was to analyze the association of 29 candidate single nucleotide polymorphisms (SNPs) in genes in the DNA repair pathway, TP53, and TP53BP1 with the risk of cervical cancer. Materials and Methods Twenty-nine SNPs in four genes in the DNA repair pathway (ERCC2, ERCC5, NBS1, and XRCC1), TP53, and TP53BP1 were genotyped for 478 cervical cancer patients and 922 healthy control subjects, and their effects on cervical carcinogenesis were analyzed. Results The most significant association was found for rs17655 in ERCC5, with an age-adjusted p-value < 0.0001, for which a strong additive effect of the risk allele C was observed (odds ratio, 2.01 for CC to GG). On the other hand, another significant polymorphism rs454421 in ERCC2 showed a dominant effect (odds ratio, 1.68 for GA+AA to GG) with an age-adjusted p-value of 0.0009. The association of these polymorphisms remained significant regardless of the age of onset. The significant result for rs17655 was also consistent for subgroups of patients defined by histology and human papillomavirus (HPV) types. However, for rs454421, the association was observed only in patients with squamous cell carcinoma and non-HPV 18 type. Conclusion The results of this study show a novel association of cervical cancer and the genes involved in the nucleotide excision pathway in the Korean population.
AB - Purpose Defects in the DNA damage repair process can cause genomic instability and play an important role in cervical carcinogenesis. The purpose of this study was to analyze the association of 29 candidate single nucleotide polymorphisms (SNPs) in genes in the DNA repair pathway, TP53, and TP53BP1 with the risk of cervical cancer. Materials and Methods Twenty-nine SNPs in four genes in the DNA repair pathway (ERCC2, ERCC5, NBS1, and XRCC1), TP53, and TP53BP1 were genotyped for 478 cervical cancer patients and 922 healthy control subjects, and their effects on cervical carcinogenesis were analyzed. Results The most significant association was found for rs17655 in ERCC5, with an age-adjusted p-value < 0.0001, for which a strong additive effect of the risk allele C was observed (odds ratio, 2.01 for CC to GG). On the other hand, another significant polymorphism rs454421 in ERCC2 showed a dominant effect (odds ratio, 1.68 for GA+AA to GG) with an age-adjusted p-value of 0.0009. The association of these polymorphisms remained significant regardless of the age of onset. The significant result for rs17655 was also consistent for subgroups of patients defined by histology and human papillomavirus (HPV) types. However, for rs454421, the association was observed only in patients with squamous cell carcinoma and non-HPV 18 type. Conclusion The results of this study show a novel association of cervical cancer and the genes involved in the nucleotide excision pathway in the Korean population.
KW - ERCC
KW - Single nucleotide polymorphism
KW - Uterine cervical neoplasms
UR - http://www.scopus.com/inward/record.url?scp=84963815227&partnerID=8YFLogxK
U2 - 10.4143/crt.2015.098
DO - 10.4143/crt.2015.098
M3 - Article
C2 - 26130668
AN - SCOPUS:84963815227
SN - 1598-2998
VL - 48
SP - 708
EP - 714
JO - Cancer Research and Treatment
JF - Cancer Research and Treatment
IS - 2
ER -
