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( Seung Soo Yoo ),( Sook Kyung Do ),( Jin Eun Choi ),( Keum Ju Choi ),( So Yeon Lee ),( Yong Dae Lee ),( Shin Yup Lee ),( Jae Hee Lee ),( Seung Ick Cha ),( Chang Ho Kim ),( Jae Yong Park ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1
Background: Telomeres have an important role in the maintenance of chromosome integrity and stability. Short telomeres are associated with human aging, age-related diseases, and tumor development, including lung cancer. We investigated the associationbetween lung cancer risk and polymorphisms that may affect telomere length. Methods: Six polymorphisms of TERT, TERC or ZNF676 were genotyped using the Taq- Man® assay or polymerase chain reaction-restriction fragment length polymorphism assay in 1100 lung cancer patients and 1100 age- and sex-matched controls. Results: Two polymorphisms of TERT were signifi cantly associated with lung cancer risk. The rs2736098 AA genotype was associated with an increased risk for lung cancer compared to that of the GG or GA genotype (adjusted odds ratio = 1.36, 95% confi dence interval = 1.03-1.80, P = 0.03). TERT rs2853669 T>C was also associated with increased lung cancer risk (under recessive model, adjusted odds ratio = 1.37, 95% confi dence interval = 1.04-1.80, P = 0.02). Conclusions: These fi ndings suggest that two polymorphisms (rs2736098 G>A and rs2853669 T>C) in TERT may contribute to genetic susceptibility to lung cancer.
( Seung Soo Yoo ),( Cheng Cheng Jin ),( Jin Eun Choi ),( Keum Ju Choi ),( So Yeon Lee ),( Yong Dae Lee ),( Shin Yup Lee ),( Jae Hee Lee ),( Seung Ick Cha ),( Chang Ho Kim ),( Jae Yong Park ) 대한결핵 및 호흡기학회 2014 대한결핵 및 호흡기학회 추계학술대회 초록집 Vol.118 No.-
Background: ENCODE project revealed that nearby or distantly located non-coding DNA regulates the expression of coding genes. RegulomeDB is a new database that can be used to predict whether variants affect transcription factor binding and gene expression. We investigated the association between lung cancer risk and potentially functional polymorphisms of XRCC1 that were selected using RegulomeDB in a Korean population. Methods: 185 polymorphisms of XRCC1 were evaluated using RegulomeDB. There was strong evidence that 10 polymorphisms affected XRCC1 expression with scores of 1a-1f that were based on the RegulomeDB. rs2854510 polymorphism was rare in Asians. Eight polymorphisms were in strong linkage disequilibrium (LD). rs2854509, which was one of the 8 polymorphisms in LD, and rs7248167, which was not in the LD block, were genotyped using the Taq-Man® assay in 610 lung cancer patients and 607 age- and sex-matched controls. Additionally, 4 polymorphisms of XRCC1 (Arg399Gln, Arg280His, Arg194Trp, and -77T>C), which were investigated with regard to the association with lung cancer risk in previous studies, were also genotyped. Results: Two polymorphisms (rs2854509 and rs7248167) that were predicted to affect XRCC1 expression based on their RegulomeDB scores were not associated with lung cancer risk (P = 0.31 and 0.93, respectively). When stratified according to age, gender, smoking status, and tumor histology, the 2 polymorphisms of XRCC1 were not associated with lung cancer risk. Among the 4 polymorphisms that were previously studied, only XRCC1 Arg280His was significantly associated with lung cancer risk (dominant model, adjusted odds ratio = 0.61, 95 % confidence interval = 0.46-0.83, P = 0.002). Conclusions: Although RegulomeDB is an attractive tool for predicting regulatory potential of variants, the 2 polymorphisms that were selected using RegulomeDB were not associated with lung cancer risk.