Leukocyte telomere length-related genetic variants in <i>ACYP2</i> contribute to the risk of esophageal carcinoma in Chinese Han population

Fang, Quan; Hui, Lihong; Min, Zhaorui; Liu, Lifeng; Shao, Yuan

doi:10.18632/oncotarget.16071

Cited by 4 publications

(7 citation statements)

References 24 publications

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“…37 Thus, mutations in the ACYP2 gene may modulate apoptosis and promote tumor development. Current studies reported that ACYP2 gene polymorphisms were associated with stroke, 38 lung cancer, 32 esophageal cancer, 39 breast cancer 40 and gastric cancer. 41 In this study, the 'G' allele of rs6713088 in the ACYP2 gene, was distributed in 45.2% of patients with HCC and 39.3% of healthy individuals, revealing a statistically significant association with HCC risk (OR = 1.27, 95% CI = 1.07-1.52, p = 0.007).…”

Section: Acyp2 Gene Polymorphismsmentioning

confidence: 99%

Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population

et al. 2020

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Background: Single nucleotide polymorphisms (SNPs) in telomere-related genes are associated with a high risk of hepatocellular carcinoma (HCC). In this study, we investigated the SNPs of telomere length-related genes and their correlation with HCC risk in the Chinese Han population. Materials and methods: A total of 473 HCC patients and 564 healthy volunteers were recruited. Overall, 42 SNPs distributed in telomere-related genes were selected and identified. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Results: We found rs6713088 (OR = 1.27, 95% CI = 1.07–1.52, p = 0.007), rs843711 (OR = 1.29, 95% CI = 1.09–1.54, p = 0.004) and rs843706 (OR = 1.30, 95% CI = 1.09–1.55, p = 0.003) in the ACYP2 gene, rs10936599 (OR = 1.21, 95% CI = 1.02–1.44, p = 0.032) in the TERC gene and rs7708392 (OR = 1.24, 95% CI = 1.00–1.52, p = 0.042) in the TNIP1 gene were associated with high HCC risk (OR > 1). In contrast, rs1682111 (OR = 0.77, 95% CI = 0.64–0.94, p = 0.008) in the ACYP2 gene, rs2320615 (OR = 0.79, 95% CI = 0.64–0.99, p = 0.038) in the NAF1 gene, rs10069690 (OR = 0.75, 95% CI = 0.59–0.96, p = 0.021) and rs2242652 (OR = 0.70, 95% CI = 0.55–0.90, p = 0.004) in the TERT gene were associated with low HCC risk (OR < 1). Based on genotype frequency distributions, rs6713088, rs843645, rs843711 and rs843706 located in the ACYP2 gene as well as rs10936599 in the TERC gene were associated with a high incidence of HCC ( p < 0.05). In addition, SNPs in these genes could form a linkage imbalance haplotype. Specifically, the haploid ‘GC’ formed by rs10069690 and rs2242652 within the TERT gene increased the risk of HCC ( p < 0.05). Conclusion: SNPs in ACYP2, TERC, TERT and other genes were correlated with HCC risk in the Chinese Han population. These data may provide new insights into early diagnosis and screening of HCC.

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Section: Acyp2 Gene Polymorphismsmentioning

confidence: 99%

Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population

et al. 2020

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“…In contrast to these studies we found that 57% of the patients without audiometrical measured ototoxicity carried the A allele and 43% of the patients with mild to moderate audiometrical measured ototoxicity. A study by Fang et al described an increased risk of esophageal carcinoma associated with the genetic variant rs11125529 in the ACYP2 [27]. Although another variant of the A allele was found and a Chinese population was studied, a genetic variant of the A allele could be related to head and neck cancer and therefore found more often in our cohort.…”

Section: Discussionmentioning

confidence: 65%

Genetic Variants as Predictive Markers for Ototoxicity and Nephrotoxicity in Patients with Locally Advanced Head and Neck Cancer Treated with Cisplatin-Containing Chemoradiotherapy (The PRONE Study)

Driessen¹,

Ham²,

Loo

et al. 2019

Cancers

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Ototoxicity and nephrotoxicity are potentially irreversible side effects of chemoradiotherapy with cisplatin in locally advanced head and neck cancer (LAHNC) patients. Several predictive genetic variants have been described, but as yet none in LAHNC patients. The aim of this study is to investigate genetic variants as predictors for ototoxicity and nephrotoxicity in LAHNC patients treated with cisplatin-containing chemoradiotherapy. Our prospective cohort of 92 patients was genotyped for 10 genetic variants and evaluated for their association with cisplatin-induced ototoxicity (ACYP2, COMT, TPMT and WFS1) and nephrotoxicity (OCT2, MATE and XPD). Ototoxicity was determined by patient-reported complaints as well as tone audiometrical assessments. Nephrotoxicity was defined as a decrease of ≥25% in creatinine clearance during treatment compared to baseline. A significant association was observed between carriership of the A allele for rs1872328 in the ACYP2 gene and cisplatin-induced clinically determined ototoxicity (p = 0.019), and not for ototoxicity measured by tone audiometrical assessments (p = 0.449). Carriership of a T allele for rs316019 in the OCT2 gene was significantly associated with nephrotoxicity at any time during chemoradiotherapy (p = 0.022), but not with nephrotoxicity at the end of the chemoradiotherapy. In conclusion, we showed prospectively that in LAHNC patients genetic variants in ACYP2 are significantly associated with clinically determined ototoxicity. Validation studies are necessary to prove the added value for individualized treatments plans in these patients.

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“…Our results showed that rs6713088 was significantly associated with an increased risk of RCC. Other studies found that rs6713088 was also associated with increased risk of colorectal cancer (OR = 1.75, 95% CI: 1.03–2.97, p = .038) (Fang et al, ), gastric cancer (OR = 1.30, 95% CI: 1.03–1.64, p = .024) (Li et al, ), and liver cancer (OR = 1.27, 95% CI: 1.07–1.52, p = .007) (Chen et al, ). In addition, rs843711 also exhibited an increased risk of RCC both under the recessive and log‐additive model.…”

Section: Discussionmentioning

confidence: 95%

“…Some studies indicated that the ACYP2 polymorphisms were associated with breast cancer (Liu et al, ; Zhang et al, ), colorectal cancer (Fang et al, ), lung cancer (Chen et al, ), gastric cancer (Li et al, ), and liver cancer (Chen et al, ). However, there are no previous reports examining the role of ACYP2 polymorphisms in the risk of RCC.…”

Section: Introductionmentioning

confidence: 99%

“…We hypothesized that ACYP2 polymorphisms are associated with the risk of RCC. To test this hypothesis, we conducted a case‐control study to evaluate the association between 12 SNPs (rs6713088, rs12621038, rs1682111, rs843752, rs10439478, rs843645, rs11125529, rs12615793, rs843711, rs11896604, rs17045754, and rs843720) reported in previous studies (Chen et al, , ; Fang et al, ; He et al, ; Li et al, ; Liang et al, ; Liu et al, ; Zhang et al, ) and the risk of RCC in the Chinese Han population.…”

Section: Introductionmentioning

confidence: 99%

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Association between ACYP2 polymorphisms and the risk of renal cell cancer

Wang

Zhang

Sun

et al. 2019

Molec Gen & Gen Med

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BackgroundKidney cancer is the predominant form of malignancy of the kidney and accounts for approximately 3%–4% of all cancers. Renal cell cancer (RCC) represents more than 85% of kidney cancer. It has been reported that genetic factors may predispose individuals to RCC. This study evaluated the association between Acylphosphatase 2 (ACYP2) gene polymorphisms and RCC risk in the Han Chinese population.MethodsTwelve single‐nucleotide polymorphisms (SNPs) in ACYP2 were genotyped using the Agena MassARRAY platform from 293 RCC patients and 495 controls. The Chi‐squared test, genetic models, haplotype, and stratification analyses were used to evaluate the association between SNPs and the risk of RCC. The relative risk was estimated using the odds ratio (OR) and 95% confidence interval (CI).ResultsWe observed that the rs6713088 allele G (OR = 1.26, 95% CI: 1.03–1.53, p = .023) and rs843711 allele T (OR = 1.29, 95% CI: 1.06–1.57, p = .010) were associated with increased RCC risk. Genetic model analyses found that rs843711 was significantly associated with an increased RCC risk under the recessive model and log‐additive model after adjusting for age and gender. Haplotype analysis showed that the haplotype “TTCTCGCC” (OR = 0.67, 95% CI: 0.48–0.94, p = .021) was associated with a decreased risk of RCC in the Han Chinese population. Stratification analysis also found that rs6713088 and rs843711 were significantly associated with increased RCC risk.ConclusionIn summary, the results suggested that ACYP2 polymorphisms could be used as a genetic marker for RCC. Additional functional and association studies are required to validate our results.

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Leukocyte telomere length-related genetic variants in ACYP2 contribute to the risk of esophageal carcinoma in Chinese Han population

Cited by 4 publications

References 24 publications

Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population

Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population

Genetic Variants as Predictive Markers for Ototoxicity and Nephrotoxicity in Patients with Locally Advanced Head and Neck Cancer Treated with Cisplatin-Containing Chemoradiotherapy (The PRONE Study)

Association between ACYP2 polymorphisms and the risk of renal cell cancer

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