Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs401681 (G&gt;A) polymorphism: evidence from a meta-analysis

Zhang, X.L.; Zhang, X.J.; Zhang, Y.M.; Zhang, Q.; Cao, Chunxiang; Gu, Dayong; Gong, Yongling; Chen, J.F.; Tang, Cuiju

doi:10.4238/2014.february.28.10

Cited by 5 publications

(3 citation statements)

References 37 publications

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“…Also associating with lung cancer risk was rs401681, a C/T intronic variant in CLPTM1L gene on chromosome 5p15.33; the T allele of rs401681 was previously found to associate with a lower risk of lung cancer in two meta-analyses 42 43 , and our results confirm these findings. On chromosome 8, we confirmed our previously observed association of the minor allele (G) of rs3019885 with increasing lung cancer risk 15 .…”

Section: Discussionsupporting

confidence: 89%

Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci

Pintarelli¹,

Cotroneo

Noci³

et al. 2017

Sci Rep

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Many single nucleotide polymorphisms (SNPs) have been associated with lung cancer but lack confirmation and functional characterization. We retested the association of 56 candidate SNPs with lung adenocarcinoma risk and overall survival in a cohort of 823 Italian patients and 779 healthy controls, and assessed their function as expression quantitative trait loci (eQTLs). In the replication study, eight SNPs (rs401681, rs3019885, rs732765, rs2568494, rs16969968, rs6495309, rs11634351, and rs4105144) associated with lung adenocarcinoma risk and three (rs9557635, rs4105144, and rs735482) associated with survival. Five of these SNPs acted as cis-eQTLs, being associated with the transcription of IREB2 (rs2568494, rs16969968, rs11634351, rs6495309), PSMA4 (rs6495309) and ERCC1 (rs735482), out of 10,821 genes analyzed in lung. For these three genes, we obtained experimental evidence of differential allelic expression in lung tissue, pointing to the existence of in-cis genomic variants that regulate their transcription. These results suggest that these SNPs exert their effects on cancer risk/outcome through the modulation of mRNA levels of their target genes.The study of genetic factors modulating an individual's predisposition to lung cancer is supported by strong epidemiological evidence obtained from various types of studies. Observational studies have consistently reported an increased risk of lung cancer in first-degree relatives of lung cancer patients 1-5 . Genome-wide association studies (GWAS) on population-based series identified three main susceptibility loci, at 5p15 6-8 , 6p21 6 , and 15q25. The locus at 15q25 harbors genes for three nicotinic acetylcholine receptor subunits (CHRNA3, CHRNA5, and CHRNB4) that have previously been associated with lung cancer risk and nicotine dependence 6,9,10 . Other GWAS found many single nucleotide polymorphisms (SNPs) that associated with lung cancer risk [11][12][13][14][15][16] . However, the results obtained in these studies have not generally been confirmed, even in a large consortium study 17 .Some genetic variants associated with lung cancer risk have also been associated with prognosis. For instance, a polymorphism (rs6495309) in the promoter of CHRNA3 gene has been reported to be associated with the overall survival of patients with early-stage non-small-cell lung cancer (NSCLC) 18 . Moreover, rs667282 in CHRNA5 has recently been proposed as a modifier of prognosis in advanced NSCLC 19 . Several other SNPs, found using a GWAS approach, were proposed to be associated with prognosis or survival of lung cancer patients in different populations [20][21][22][23] . However, these studies did not identify the same candidate polymorphisms, which may be due (at least in part) to the wide genetic heterogeneity of the human population.The GWAS cited here, which aimed to find SNPs associated with lung cancer risk or prognosis, identified mostly non-overlapping subsets of SNPs, hindering progress in lung cancer research. One limitation of these studies is that they investigate...

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Section: Discussionsupporting

confidence: 89%

Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci

Pintarelli¹,

Cotroneo

Noci³

et al. 2017

Sci Rep

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“…Furthermore, associations of these polymorphisms with lung carcinoma risk were observed both in current and former smokers. It is even compelling when considering the fact that the CLPTM1L -rs401681 (G > A) polymorphism was found to be significantly associated with decreased lung cancer risk, especially among European populations [25]. Also Tang et al [26] reported that the CLPTM1L gene rs402710 (C > T) and rs401681 (C > T) polymorphisms are associated with decreased cancer risk.…”

Section: Discussionmentioning

confidence: 99%

Rs401681 and rs402710 polymorphisms of CLPTM1L gene in cancerous and healthy lung tissues in patients with lung adenocarcinoma

Żywiec,

Rydel,

Drozdzowska

et al. 2023

Ann. Acad. Med. Siles.

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WstępPoszukiwanie czynników wpływających na przeżycie chorych z nowotworami płuc jest stale aktualne. Takim potencjalnym czynnikiem jest polimorfizm genu CLPTM1L (cleft lip and palate transmembrane 1-like), włączony w proces karcynogenezy. Celem pracy była ocena rozkładu genotypów i alleli wybranych polimorfizmów genu CLPTM1L – rs401681 i rs402710 – w tkance zmienionej nowotworowo i w tkance zdrowej płuc u chorych z gruczolakorakiem płuca oraz ich związku z przeżyciem chorych.Materiał i metodyBadaniami objęto 133 chorych w wieku ujawnienia nowotworu płuca wynoszącym średnio 65 lat, u których w przeszłości dokonano usunięcia gruczolakoraka płuc. Z zabezpieczonych w parafinie próbek tkanki zdrowej płuc i z tkanki zmienionej chorobowo wyizolowano materiał genetyczny – kwas deoksyrybonukleinowy (DNA) – oraz przeprowadzono genotypowanie polimorfizmów CLPTM1L. Uzyskane wyniki poddano analizie wraz z danymi demograficznymi, wywiadem dotyczącym palenia tytoniu, wywiadem rodzinnym obciążonym nowotworowo, stadium choroby w klasyfikacji TNM (tumor, node, metastasis), zaawansowaniem klinicznym nowotworu i czasem przeżycia chorych.WynikiŚredni czas obserwacji wynosił 44,5 miesiąca. Chorzy, którzy zmarli, żyli średnio 22,6 miesiąca od czasu postawienia diagnozy nowotworu. Nie stwierdzono znamiennych różnic pomiędzy rozkładem genotypów ani alleli w tkankach chorej i zdrowej płuc oraz ich związku z przeżyciem chorych. Czynnikami wpływającymi na przeżycie chorych były wiek w czasie postawienia diagnozy nowotworu, kategoria N w klasyfikacji TNM oraz wysokie zaawansowanie kliniczne nowotworu.WnioskiNie stwierdzono związku pomiędzy zmiennością polimorficzną rs401681 i rs402710 w tkance chorej i zdrowej płuc a przeżyciem chorych.

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“…And meta-analysis is su cient to address these issues [47] . The results of previous meta-analysis con rmed the risk association between rs2736098, rs2736100, rs401681, rs402710, and rs31489 and LC, and analyzed the differences in LC susceptibility in different ethnic groups [48] [49][50] [51][52] [53][54] [55][56] [57][58] [59][60] [61] . However, most of these studies focused on single or several loci in the TERT-CLPTM1L region, and larger scale meta-analysis was still lacking.Tian J et al [62] recently conducted a large-scale meta-analysis and con rmed that eight sites in the TERT-CLPTM1L region (rs2853677, rs2242652, rs2736098, rs2736100, rs31489, rs401681, rs402710 and rs465498) were associated with LC risk, but they did not nd any other locus effects [2] .…”

Section: Introductionmentioning

confidence: 99%

Six minor allele variants in the TERT-CLPTM1L region are associated with lung cancer risk: a meta-analysis based on different ethnicities and different lung cancer subtypes

Luo

et al. 2023

Preprint

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Background: Although many genome-wide association studies(GWAS) have confirmed the associations between multiple sites in the TERT-CLPTM1L region and lung cancer(LC) susceptibility in different populations, some of them haven’t found the associations between these sites and LC. The purpose of this study is to clarify the associations between TERT-CLPTM1L polymorphism and LC, as well as the differences in these associations between patients of different ethnicities and different LC subtypes. Methods: Relevant literatures published before May 7, 2022 on ‘TERT-CLPTM1L polymorphisms and LC susceptibility’ in PubMed, EMbase,Web of Science, MEDLINE databases were searched through the Internet. Statistical analysis of data was performed in Revman5.3 software, including drawing forest plots, funnel plots and so on. Sensitivity and publication bias analysis were performed in Stata 14.0 software. TSA 0.9.5.10 software was performed for the Trial sequential analysis(TSA) tests to evaluate the stability of the results. Registration number: CRD42023407890. Results: A total of 51 literatures were included in this meta-analysis, including 6 TERT-CLPTM1L polymorphisms and a total of 54 studies (12 GWAS and 42 case-control studies), including 11 studies in Caucasians and 43 studies in Asians. The results showed that the minor allele variants of the 6 polymorphisms were positively or negatively associated with the risk of LC (rs2736098[T]: [OR]=1.24, 95% CI [1.18, 1.31]; rs2736100[C]: [OR]=1.25, 95% CI [1.20, 1.30]; rs31489[A]: [OR]=0.87, 95% CI [0.82, 0.92]; rs401681[T]: [OR]=0.87, 95% CI [0.84, 0.90]; rs402710[T]: [OR]=0.86, 95% CI [0.83, 0.88]; rs4975616[G]: [OR]=0.86, 95% CI [0.82, 0.91]). However, there were clear differences in these associations in LC with different pathological subtypes in Caucasian and Asian populations (Subgroup differences: I2≥50%). Conclusions: Our results confirmed the clear associations between 6 TERT-CLPTM1L polymorphisms and the risk of LC, and there were significant differences in these associations among different ethnicities/pathological subtypes of LC.

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Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs401681 (G>A) polymorphism: evidence from a meta-analysis

Cited by 5 publications

References 37 publications

Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci

Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci

Rs401681 and rs402710 polymorphisms of <i>CLPTM1L</i> gene in cancerous and healthy lung tissues in patients with lung adenocarcinoma

Six minor allele variants in the TERT-CLPTM1L region are associated with lung cancer risk: a meta-analysis based on different ethnicities and different lung cancer subtypes

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