Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies

Wang, Junjun; Liu, Qingyun; Yuan, Shuai; Xie, Wenting; Liu, Yuan; Xiang, Ying; Wu, Na; Wu, Long; Ma, Xiangyu; Cai, Tongjian; Zhang, Yao; Sun, Zhifu; Li, Yafei

doi:10.1038/s41598-017-07737-0

Cited by 96 publications

(68 citation statements)

References 54 publications

(59 reference statements)

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“…Jabir and Hoidy found that individuals carrying the CT genotype of SOD2 ‐rs4880 manifested an increased risk of breast cancer (in dominant model) . Moreover, meta‐analysis performed by Wang et al showed that rs4880 was significantly associated with lung cancer susceptibility . The protective role of rs4880 against pancreatic cancer was identified by Zhang et al In addition, the effect of rs4880 on risk of oral squamous cell carcinoma gastric cancer progression and tumor aggressiveness was also reported previously.…”

Section: Discussionmentioning

confidence: 83%

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

et al. 2020

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Several lines of evidences have indicated that inflammation play an important role in the carcinogenesis. During the inflammatory processes, free radical species are produced from oxidative stress. In normal conditions, enzymatic and nonenzymatic antioxidants remove these products. Manganese superoxide dismutase (MnSOD), glutathione peroxidase‐1 (GPx‐1), and catalase (CAT) are three important enzymes. Therefore, this study aimed to evaluate the effects of MnSOD (SOD2), GPX‐1, and CAT genetic polymorphisms on papillary thyroid carcinoma (PTC) susceptibility. A total of 134 patients with PTC and 151 healthy controls were recruited to participate in this study. All samples were genotyped for SOD2 rs4880, GPX1 1050450, and CAT rs7943316 polymorphisms by polymerase chain reaction‐restriction fragment length polymorphism method. The frequencies of the rs1050450, rs4880, and rs7943316 alleles and genotypes were not different between PTC patients and controls. However, the TC genotype of SOD2 rs4880 polymorphism was significantly higher in males compared to that in females in PTC patients (odds ratio [OR], 3.9 [95% CI, 1.5–11], p = .007). The rs4880 polymorphism was also associated with higher stages (III‐IV) of PTC in dominant model. No significant correlation was found between GPX1‐rs1050450 and CAT‐rs7943316 polymorphisms and demographic, clinical, and pathological features of the disease. The SOD2 rs4880CT genotype was more frequent in males with PTC and patients with higher stages (III–IV) of disease (OR, 2.9 [95% CI, 1.1–7.7], p = .04). However, no significant association was found between GPX1‐rs1050450 and CAT‐rs7943316 variants and PTC or its demographic, clinical, and pathological features.

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Section: Discussionmentioning

confidence: 83%

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

et al. 2020

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“…To our knowledge, the association between miR34b/c and Wilms tumor susceptibility has not been investigated. miR34b/c has been shown to be intimately connected to the development and prognosis of a variety of tumors, including gastric cancer, bladder cancer, pancreatic cancer, ovarian cancer, prostate cancer, hepatocellular carcinoma, neuroblastoma and many others [31][32][33][34][35]. In our previous study, we found that miR34b/c rs4938723 T>C polymorphism has a protective effect on neuroblastoma [36].…”

Section: Discussionmentioning

confidence: 91%

The association of miR34b/c and TP53 gene polymorphisms with Wilms tumor risk in Chinese children

et al. 2020

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Wilms tumor is the most common pediatric malignancy in the kidney. The miR34b/c is a downstream target gene of the transcription factor p53. The important role of TP53 mutations, the methylation of miR34b/c, and the interaction between these two molecules in tumorigenesis have been well documented. Due to the biological connection between p53 and miR34b/c, in the present study, we investigated the association between polymorphisms in these two molecules and Wilms tumor susceptibility through genotyping two important functional polymorphisms (miR34b/c rs4938723 T>C and TP53 rs1042522 C>G) in 183 cases and 603 controls. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) derived from the logistic regression analysis were used to assess the correlation of miR34b/c rs4938723 and TP53 rs1042522 polymorphisms with Wilms tumor risk. Our results indicated that the association of miR34b/c rs4938723 and TP53 rs1042522 polymorphisms with Wilms tumor susceptibility was not statistically significant. Stratified analysis by age, gender, and clinical stage, as well as combined effect analysis were also performed, yet, no significant association was found. In conclusion, our study indicated a lack of association between the two selected polymorphisms and Wilms tumor susceptibility. Our findings need to be verified in studies with larger sample size in the future.

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“…Genes CRABP1, AGPHD1 (also called HYKK), and CHRNA3 are nearby the highly significant locus on chromosome 15, and have been identified in previous literature as potentially associated with lung cancer. AGPHD1 and CHRNA3 have been associated with lung cancer via GWAS‐type analyses (Wang et al, ), while CRABP1 has been associated with lung cancer via an analysis of messenger RNA (Favorskaya et al, ), providing further evidence that the dysregulation of CRABP1 affects lung cancer risk.…”

Section: Resultsmentioning

confidence: 99%

Integrating germline and somatic genetics to identify genes associated with lung cancer

Pattee

Zhan

Xiao

et al. 2019

Genetic Epidemiology

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Genome‐wide association studies (GWAS) have successfully identified many genetic variants associated with complex traits. However, GWAS experience power issues, resulting in the failure to detect certain associated variants. Additionally, GWAS are often unable to parse the biological mechanisms of driving associations. An existing gene‐based association test framework, Transcriptome‐Wide Association Studies (TWAS), leverages expression quantitative trait loci data to increase the power of association tests and illuminate the biological mechanisms by which genetic variants modulate complex traits. We extend the TWAS methodology to incorporate somatic information from tumors. By integrating germline and somatic data we are able to leverage information from the nuanced somatic landscape of tumors. Thus we can augment the power of TWAS‐type tests to detect germline genetic variants associated with cancer phenotypes. We use somatic and germline data on lung adenocarcinomas from The Cancer Genome Atlas in conjunction with a meta‐analyzed lung cancer GWAS to identify novel genes associated with lung cancer.

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Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies

Cited by 96 publications

References 54 publications

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

The effects of the genetic polymorphisms of antioxidant enzymes on susceptibility to papillary thyroid carcinoma

The association of miR34b/c and TP53 gene polymorphisms with Wilms tumor risk in Chinese children

Integrating germline and somatic genetics to identify genes associated with lung cancer

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