Polymorphisms in Telomere Maintenance Genes and Risk of Lung Cancer

Abstract

This study was conducted to comprehensively evaluate the associations between polymorphisms in telomere maintenance genes (TERT, TRF1, TNKS1, TRF2, RAP1, and POT1) and lung cancer risk. We captured 35 polymorphisms in the genes and determined their frequencies in 27 healthy Koreans. Ten haplotype-tagging polymorphisms were examined in a case-control study that consisted of 720 lung cancer patients and 720 healthy controls. The TERTrs2735940 g.C > Tand rs2736098 g.G > A, and TNKS1 rs6985140 g.A > G were significantly associated with the risk of lung cancer. In the haplotype analysis, the TERT rs2735940T/rs2736098A haplotype (ht4) was associated with a significantly increased risk of lung cancer compared with the rs2735940C/rs2736098G haplotype (adjusted odds ratio, 1.26; 95% confidence interval, 1.07-1.50; P = 0.008). When the TERT ht4 and TNKS1 rs6985140G as risk alleles, the risk of lung cancer increased in a dose-dependent manner as the number of risk alleles increased (P trend < 0.001). Subjects with two to four risk alleles were at a significantly increased risk of lung cancer (adjusted odds ratio, 1.67; 95% confidence interval, 1.23-2.27; P = 0.001) compared with subjects with zero risk allele. These findings suggest that genetic variants in the TERTand TNKS1 genes contribute to genetic susceptibility to lung cancer. (Cancer Epidemiol Biomarkers Prev 2009;18(10):2773-81)

Expression of hPOT1 in HeLa Cells and the Probability of Gene Variation of hpot1 Exon14 in Endometrial Cancer are Much Higher than in Other Cancers

“…Varadi, V et al independently found similarity results in breast cancer (Shen et al, 2010). Jin Eun Choi et al found that 8 SNPs of hpot1 in which 2 SNPs are the risk factors in lung cancer (Choi et al, 2009). Hosgood, H. D also found hpot1 genetic variations in lung cancer tissues (Hosgood et al, 2009).…”

“…Savage, S. A. found some single nucleotide polymorphisms(SNP) of hpot1 in breast cancer (Savage et al, 2007). Others founded 2 SNPs of hpot1 are the risk factors of the lung cancer (Choi et al, 2009). There are hpot1 genetic point variations in the skin cancer (Nan et al, 2011).…”

Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in a Chinese Population

“…To date, there have been a few studies on TERT rs2736098 polymorphism and susceptibility to lung cancer. Choi et al (2009) investigated the association of rs2736098 in TERT gene with lung cancer in a Korean population. In their study, the rs2736098 TT genotype was positively related to increased risk of lung cancer.…”

“…Recently, some genome-wide association studies have reported that the variations in the TERT-CLPTM1L (5p15.33) locus contribute to susceptibility to cancers, and found that TERT rs2736098 and CLPTM1L rs401681 were both associated with risk of lung cancer (Wang et al, 2008;Choi et al, 2009;Chen et al, 2012;Myneni et al, 2013). Our previous study which focused on the association between the two genes and lung cancer, found that TERT and CLPTM1L affected the susceptibility to lung cancer in Chinese women non-smokers (Li et al, 2013).…”

Polymorphisms of TERT and CLPTM1L and the Risk of Hepatocellular Carcinoma in Chinese Males

“…However, study findings are controversial. According to HapMap data, these discrepancies could reflect different allele frequencies in different ethnicities, or might be affected by cancer types, hereditary factors, and environmental factors (Choi et al, 2009). No report has previously determined whether the CLPTM1L rs401681 polymorphism influences HCC susceptibility, but we found that the CLPTM1L rs401681 CT genotype increased the HCC risk in a Chinese male population.…”