Telomere length<i>‐</i>related gene <i>ACYP2</i> polymorphism is associated with the risk of HAPE in Chinese Han population

He, Yongjun; Zhang, Xiyang; Li, Xun; Du, Jieli; He, Xue; Zhang, Zhiying; Zhang, Yuan; Kang, Longli; Jin, Tianbo; Yuan, Dongya

doi:10.1002/jgm.2896

Cited by 17 publications

(21 citation statements)

References 21 publications

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“…The study found that ACYP2 is associated with a variety of tumors or diseases, such as lung cancer (Chen et al, ), colorectal cancer (Liu et al, ), breast cancer (Zhang et al, ), stroke (Liang et al, ), high altitude pulmonary edema (He et al, ). Cui et al researched the influence of telomere related genes on the prognosis of glioma, found that ACYP2 rs843720 influence the overall survival rate, the overall survival rate of glioma patients with mutated genotype was lower than that of wild‐type patients (Cui et al, ).…”

Section: Discussionmentioning

confidence: 99%

Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case‐control study and meta‐analysis

Zhao¹,

Liu

et al. 2019

Molec Gen & Gen Med

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Background ACYP2 gene may be involved in the process of telomere shortening which may be involved in the liver cancer. So, this research was to examine whether the ACYP2 gene polymorphism has impact on the risk of liver cancer in Chinese population. Methods Two hundred and fifty cirrhosis patients and 248 liver cancer patients were selected. Unconditional logistic regression was to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Analyze the relationship between ACYP2 gene polymorphism and tumor using meta‐analysis. Analyze the expression of ACYP2 gene in liver cancer and its influence on the prognosis of liver cancer by databases (Ualcan, GTEX and Kaplan–Meier plotter). Results In the allele model, ACYP2 rs843720 was protection against the occurrence of cirrhosis developed into liver cancer (OR = 0.76, 95% CI: 0.58–0.99, p = 0.04). Rs1682111 and rs843720 play a protective role in the additive model (rs1682111: OR = 0.69, 95% CI: 0.52–0.93, p = 0.01; rs843720: OR = 0.73, 95% CI: 0.54–0.98, p = 0.04).While rs843645 G allele increased the risk of cirrhosis developed into liver cancer under the additive model (OR = 1.42, 95% CI: 1.02–2.00, p = 0.04).The haplotype analysis detected that “ATATCGCC” decreased the risk of cirrhosis developed into liver cancer (OR = 0.69, 95% CI: 0.51–0.92, 95% CI: p = 0.013); however, “TGAGCGTC” increased the risk of cirrhosis developed into liver cancer (OR = 1.48, 95% CI: 1.04–2.10, p = 0.027). Meta‐analysis shown that ACYP2 rs1682111 was associated with the risk of cancer (OR = 0.90, 95% CI: 0.78–1.05, p = 0.02). ACYP2 gene high expression was found to be associated with better OS for all liver patients. Conclusion Based on this research, we surmised that ACYP2 gene may be involved in the occurrence of liver cancer in Chinese populations.

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Section: Discussionmentioning

confidence: 99%

Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case‐control study and meta‐analysis

Zhao¹,

Liu

et al. 2019

Molec Gen & Gen Med

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“…The rs11896604 and rs17045754 loci on the ACYP2 gene were found to be associated with ischemic stroke in a case-control study of 300 patients with ischemic stroke and 300 healthy individuals [17]. In a study of ACYP2 and high-altitude pulmonary edema, two sites, rs11896604 and rs12615793, were found to reduce the risk of high-altitude pulmonary edema [18]. But, it is unclear that this site is how to affect the incidence of esophageal cancer.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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BackgroundShort leukocyte telomere length has been associated with significantly increased risk of esophageal carcinoma. A previous genome-wide association study demonstrated that ACYP2 was associated with leukocyte telomere length. However, the role of ACYP2 genetic variants on esophageal carcinoma susceptibility is still unknown. Therefore, we investigated whether ACYP2 polymorphisms have impact on the risk of esophageal carcinoma in Chinese.Materials and MethodsWe conducted a case-control study among 386 cases and 495 healthy controls from northwest China. 14 SNPs in ACYP2 were selected and genotyped using Sequenom MassARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusting for age and gender.RESULTSWe found that 1.34-fold increased risk of esophageal carcinoma is associated with the rs11125529 A allele compared with the rs11125529 C allele (OR=1.29, 95%CI: 1.02-1.62, p=0.030) under the additive model, after adjusted by age and gender. We also found rs11896604 and rs17045754 loci increased the esophageal carcinoma risk under the additive model (rs11896604: OR=1.34, 95%CI: 1.03-1.76, p=0.032; rs17045754: OR=1.36, 95%CI: 1.03-1.80, p=0.028). One main linkage block was observed across the locus. This block was comprised of seven closely linked SNPs: rs1682111, rs843752, rs10439478, rs843645, rs11125529, rs843711 and rs11896604. The haplotype analysis detected that haplotype “TTCTATG” increased the risk of esophageal carcinoma (OR=1.38, 95%CI: 1.04-1.82, p=0.025).ConclusionIn conclusion, ACYP2 gene may be associated with an increased risk of esophageal carcinoma in Chinese Han populations. Future studies to address the biological function of this polymorphism in the development of esophageal carcinoma are warranted.

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“…The genetic sensitivity to hypoxia has been known for years, includes severe genes (Hanaoka et al, ; Rong et al, ), such as ACE , EDN1 , ACYP2 , RTEL1, and VEGF . Genetic polymorphisms play an important role in high altitude diseases, including the HAPE risk (He et al, ; Mishra et al, ). However, genetic studies about the etiology of HAPE are still rare.…”

Section: Introductionmentioning

confidence: 99%

Association between the IL1R2 rs2072472 polymorphism and high‐altitude pulmonary edema risk

Jin

Zhu

Bai

et al. 2019

Molec Gen & Gen Med

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Aim High‐altitude pulmonary edema (HAPE), as a multifactorial disease, is caused by stress failure and involves both environmental and genetic factors. Study shows that IL‐1 receptors can selectively decrease the oxygen arterial hypertension and influence the blood coagulation. So we evaluated whether genetic polymorphisms in IL1R1 and 1L1R2 genes are associated with the risk of HAPE in Chinese Han population. Methods Ten susceptible SNPs in the IL1R1 and IL1R2 genes were genotyped among 265 HAPE cases and 303 controls using the Agena MassARRAY platform. The associations of the SNP frequencies with HAPE were analyzed by chi‐square (χ 2 ) test/Fisher's test. The genetic models were used to evaluate associations. Results In the allele model, we found that rs2072472 was significantly associated with a 0.73‐fold decreased risk of HAPE (OR = 0.73, 95% CI = 0.55–0.97, p = 0.033). In the genetic model analysis, the rs2072472 in IL1R2 gene was associated with a 0.32‐fold decreased risk of HAPE in the codominant model, 0.67‐fold decreased risk of HAPE in the dominant model, 0.36‐fold decreasing the risk of HAPE in the recessive model, and 0.66‐fold decreased risk of HAPE in the log‐additive model, respectively. We found three candidate SNPs (rs11674595, rs4851527, and rs719250) in the IL1R2 gene have shown strong linkage, and none of the haplotypes was significantly associated with risk of HAPE. Conclusion These findings suggested that IL1R2 polymorphisms may contribute to the protection of HAPE.

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Telomere length‐related gene ACYP2 polymorphism is associated with the risk of HAPE in Chinese Han population

Abstract: The present study found that the ACYP2 gene polymorphism significantly decreased the risk of HAPE. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Cited by 17 publications

References 21 publications

Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case‐control study and meta‐analysis

Associations between polymorphisms of the ACYP2 gene and Liver cancer risk: A case‐control study and meta‐analysis

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

Association between the IL1R2 rs2072472 polymorphism and high‐altitude pulmonary edema risk

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