Expression Quantitative Trait Loci for CARD8 Contributes to Risk of Two Infection-Related Cancers—Hepatocellular Carcinoma and Cervical Cancer

Yin, Jian; Wen, Juan; Hua, Dong; Han, Jing; Jiang, Jie; Song, Ci; Liu, Yao; Liu, Ji‐Bin; Liu, Li; Zhu, Liguo; Chen, Jian Guo; Zhai, Xiangjun; Xie, Shuanghua; Hu, Zhibin; Shen, Hongbing; Dai, Min; Ni, Li

doi:10.1371/journal.pone.0132352

Cited by 22 publications

(25 citation statements)

References 34 publications

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“…LncRNA AC008392.1, located in the upstream region of CARD8, may affect the normal expression of CARD8. 41 CARD8 may influence the tumor biology by inhibiting cell apoptosis 32 , 53 and involving the NF-kB pathway. 54 In dbSNP database, the MAF of rs7248320 in the Chinese population was 0.402 (MAF >0.05).…”

Section: Discussionmentioning

confidence: 99%

“…The expression of lncRNA AC008392.1 is found in many cell lines including human B lymphocyte and human cervical cancer cells. 41 Some studies have demonstrated that rs7248320 in AC008392.1 may represent the expression quantitative trait loci (eQTL) for CARD8. Hence, it may change the expression of CARD8.…”

Section: Introductionmentioning

confidence: 99%

“… 41 , 42 Yin et al reported that the variant genotype of rs7248320GG increased the risks of hepatocellular carcinoma (HCC) and cervical cancer. 41 Therefore, rs7248320 may relate with the risks of cancers by influencing the interaction between lncRNA AC008392.1 and CARD8. And then, we assumed that the SNP rs7248320 may alter the risk of lung cancer by influencing the expression of CARD8.…”

Section: Introductionmentioning

confidence: 99%

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Polymorphism in lncRNA AC008392.1 and its interaction with smoking on the risk of lung cancer in a Chinese population

Lv¹,

Cui²,

Li³

et al. 2018

CMAR

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PurposeTo evaluate the association between rs7248320 in lncRNA AC008392.1 and the risk of lung cancer, this case–control study was carried out in a Chinese population. This study also evaluated the gene–environment interaction between rs7248320 and exposure to smoking status on the risk of lung cancer.Patients and methodsWe conducted a hospital-based case–control study including 512 lung cancer cases and 588 healthy controls. The association between rs7248320 and the risk of lung cancer was analyzed, and the gene–environment interaction was estimated on an additive scale.ResultsThe variant genotype of rs7248320 was significantly related to the risk of non-small-cell lung cancer (NSCLC). Individuals carrying homozygous GG genotype had decreased risk of NSCLC, compared with individuals carrying the homozygous wild AA genotype/heterozygote GA genotype (adjusted odds ratio [OR] =0.653, 95% confidence interval [CI] =0.442–0.966, P=0.033). Moreover, in the subgroup of ages, there were statistically significant associations between rs7248320 and the risk of lung cancer and NSCLC in the population over 60 years of age. Compared with individuals carrying genotypes AA/GA, individuals with genotype GG had the lower risk of lung cancer and NSCLC (adjusted ORs were 0.579 and 0.433, 95% CIs were 0.338–0.994 and 0.231–0.811, P-values were 0.048 and 0.009, respectively). Compared with homozygote AA, the homozygote GG was associated with a decreased risk in NSCLC (OR =0.456, 95% CI =0.235–0.887, P=0.021). There were no statistically significant results in gene–environment interactions on an additive scale.ConclusionThese findings suggest that lncRNA AC008392.1 rs7248320 may be involved in genetic susceptibility to NSCLC in a Chinese population.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Polymorphism in lncRNA AC008392.1 and its interaction with smoking on the risk of lung cancer in a Chinese population

Lv¹,

Cui²,

Li³

et al. 2018

CMAR

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“…Followingthe traditional method[18], genomic DNA was extracted from a leukocyte pellet by a series of treatments. Then, all SNPs were genotyped using the Sequenom Mass ARRAY iPLEX platform (SequenomInc).…”

Section: Methodsmentioning

confidence: 99%

Expression quantitative trait loci for PAX8 contributes to the prognosis of hepatocellular carcinoma

Yang

Song

et al. 2017

PLoS ONE

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Paired-box family member PAX8 encodes a transcription factor that has a role in cell differentiation and cell growth and may participate in the prognosis of hepatocellular carcinoma (HCC). By bioinformatics analysis, we identified several single nucleotide polymorphisms (SNPs) within a newly identified long non-coding RNA (lncRNA) AC016683.6 as expression quantitative trait loci (eQTLs) for PAX8. Hence, we hypothesized that PAX8eQTLs in lncRNA AC016683.6 may influence the HCC prognosis. We then performed a case-only study to assess the association between the two SNPs as well as the prognosis of HCC in 331 HBV-positive HCC patients without surgical treatment. Cox proportional hazard models were used for survival analysis with adjustments for the age, gender, smoking status, drinking status, Barcelona-Clinic Liver Cancer (BCLC) stage, and chemotherapy or TACE (transcatheter hepatic arterial chemoembolization) status. We found that the G allele of rs1110839 and the T allele of rs4848320 in PAX8was significantly associated with a better prognosis compared with the T allele of rs1110839 and the C allele of rs4848320 (adjusted HR = 0.74, 95% CI = 0.61–0.91, P = 0.004 for rs1110839 and adjusted HR = 0.71, 95% CI = 0.54–0.94, P = 0.015 for rs4848320 in the additive model). Furthermore, the combined effect of the variant genotypes for these two SNPs was more prominent in patients with the BCLC-C stage orpatients with chemotherapy or TACE. Although the exact biological function remains to be explored, our findings suggest a possible association of PAX8eQTLs in lncRNA AC016683.6 with the HCC prognosis inthe Chinese population. Further large and functional studies are needed to confirm our findings.

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“…The genomic DNA was extracted from the leukocyte pellet by a series of treatments using conventional methods [14] . Then, we use the Sequenom Mass ARRAY iPLEX platform (Sequenom Inc) to genotype the SNP rs4733586.…”

Section: Snp Selection and Genotypingmentioning

confidence: 99%

Expression quantitative trait loci for PVT1 contributes to the prognosis of hepatocellular carcinoma

Tian¹,

Song²,

Pu³

et al. 2018

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Aim: Plasmacytoma variant translocation 1 (PVT1 ), a long intergenic non-coding RNA, was overexpressed in liver cancer. A single nucleotide polymorphism (SNP) rs4733586 was identified as an expression quantitative trait loci (eQTL) for PVT1 using bioinformatics analysis. This study was to assess the association of PVT1 eQTL with hepatocellular carcinoma (HCC) prognosis. Methods:A case-only study was performed to assess the association between SNP and HCC overall survival in 331 HCC patients with hepatitis B virus. Cox proportional hazard regression models were conducted for survival analysis with adjustment for age, gender, smoking status, drinking status, Barcelona-Clinic Liver Cancer stages, and chemotherapy or transcatheter hepatic arterial chemoembolization (TACE) status. Results:The variant genotype C allele of rs4733586 was significantly associated with a higher death risk compared with T allele (adjusted hazard ratio = 1.26, 95% confidence intervals = 1.05-1.51, P = 0.012 in the additive model). By stepwise Cox proportional hazard analysis, four variables (age, drinking status, chemotherapy or TACE status, PVT1 eQTL) were remained in the final regression model. In the stratified analysis, no heterogeneity was observed among different subgroups. Conclusion:These findings suggest that eQTL SNP for PVT1 may be susceptibility marker for the HCC overall survival.

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Expression Quantitative Trait Loci for CARD8 Contributes to Risk of Two Infection-Related Cancers—Hepatocellular Carcinoma and Cervical Cancer

Cited by 22 publications

References 34 publications

Polymorphism in lncRNA AC008392.1 and its interaction with smoking on the risk of lung cancer in a Chinese population

Polymorphism in lncRNA AC008392.1 and its interaction with smoking on the risk of lung cancer in a Chinese population

Expression quantitative trait loci for PAX8 contributes to the prognosis of hepatocellular carcinoma

Expression quantitative trait loci for PVT1 contributes to the prognosis of hepatocellular carcinoma

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