Liqing Zhou1, Qipeng Yuan, Ming Yang. 1. Department of Radiation Oncology, Huaian No. 2 Hospital, Huaian, Jiangsu Province, China.
Abstract
AIM: P53 plays a critical role in the maintenance of genomic stability as well as the control of cell growth and apoptosis. Recently, an uncommon P53 genetic variant (rs78378222) was reported to be significantly associated with multiple cancers in Caucasians in a genome-wide association study. rs78378222 locates in the 3'-untranslated region of the P53 gene, and this A-to-C polymorphism results in changes of the AATAAA polyadenylation signal to AATACA, which leads to impaired 3'-end processing of P53 mRNA and decreased P53 expression. METHODS: We evaluated the association between this polymorphism and esophageal squamous cell carcinoma (ESCC) risk in a case-control cohort consisting of 405 ESCC patients and 810 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression. RESULTS: We did observe this polymorphism with low minor allele frequency in Chinese Han population. Additionally, significantly increased ESCC risk was associated with P53 rs78378222 A>C polymorphism. Compared with rs78378222AA carriers, the OR of developing ESCC for AC carriers was 3.22 (95% CI=1.71-6.33, P=1.34×10(-4)). CONCLUSION: These results suggest that this functional uncommon P53 rs78378222 variant is associated with ESCC risk in the current Han Chinese population.
AIM: P53 plays a critical role in the maintenance of genomic stability as well as the control of cell growth and apoptosis. Recently, an uncommon P53 genetic variant (rs78378222) was reported to be significantly associated with multiple cancers in Caucasians in a genome-wide association study. rs78378222 locates in the 3'-untranslated region of the P53 gene, and this A-to-C polymorphism results in changes of the AATAAA polyadenylation signal to AATACA, which leads to impaired 3'-end processing of P53 mRNA and decreased P53 expression. METHODS: We evaluated the association between this polymorphism and esophageal squamous cell carcinoma (ESCC) risk in a case-control cohort consisting of 405 ESCC patients and 810 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression. RESULTS: We did observe this polymorphism with low minor allele frequency in Chinese Han population. Additionally, significantly increased ESCC risk was associated with P53rs78378222 A>C polymorphism. Compared with rs78378222AA carriers, the OR of developing ESCC for AC carriers was 3.22 (95% CI=1.71-6.33, P=1.34×10(-4)). CONCLUSION: These results suggest that this functional uncommon P53rs78378222 variant is associated with ESCC risk in the current Han Chinese population.
Authors: Zhaoming Wang; Preetha Rajaraman; Beatrice S Melin; Charles C Chung; Weijia Zhang; Roberta McKean-Cowdin; Dominique Michaud; Meredith Yeager; Anders Ahlbom; Demetrius Albanes; Ulrika Andersson; Laura E Beane Freeman; Julie E Buring; Mary Ann Butler; Tania Carreón; Maria Feychting; Susan M Gapstur; J Michael Gaziano; Graham G Giles; Goran Hallmans; Roger Henriksson; Judith Hoffman-Bolton; Peter D Inskip; Cari M Kitahara; Loic Le Marchand; Martha S Linet; Shengchao Li; Ulrike Peters; Mark P Purdue; Nathaniel Rothman; Avima M Ruder; Howard D Sesso; Gianluca Severi; Meir Stampfer; Victoria L Stevens; Kala Visvanathan; Sophia S Wang; Emily White; Anne Zeleniuch-Jacquotte; Robert Hoover; Joseph F Fraumeni; Nilanjan Chatterjee; Patricia Hartge; Stephen J Chanock Journal: Hum Mutat Date: 2015-05-18 Impact factor: 4.878
Authors: Yong Li; Michael W Gordon; Zijun Y Xu-Monette; Carlo Visco; Alexander Tzankov; Dehui Zou; Lugui Qiu; Santiago Montes-Moreno; Karen Dybkaer; Attilio Orazi; Youli Zu; Govind Bhagat; Kristy L Richards; Eric D Hsi; William W L Choi; J Han van Krieken; Qin Huang; Weiyun Ai; Maurilio Ponzoni; Andrés J M Ferreri; Jane N Winter; Ronald S Go; Miguel A Piris; Michael B Møller; Lin Wu; Michael Wang; Kenneth S Ramos; L Jeffrey Medeiros; Ken H Young Journal: Blood Date: 2013-03-20 Impact factor: 22.113