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Haplotype block map for part of the SNPs in ACYP2 gene. Linkage disequilibrium plots containing thirteen SNPs from 2p16.2. Standard color frame is used to show LD pattern. Two blocks in the figure showed higher LD. Red squares display statistically significant associations between a pair of SNPs, as measured by D'; darker shades of red indicate higher D'.
Source publication
Gastric cancer (GC) is a complex multifactorial disease, and genetic factors are believed the predominant cause to the occurrence of GC. We sought to investigate the associations between single nucleotide polymorphisms (SNPs) in ACYP2 gene and the risk of GC in the Northwest Chinese Han population. We recruited 302 GC cases and 300 controls from no...
Context in source publication
Context 1
... SHEsis software, two blocks were detected in studied ACYP2 SNPs by haplotype analyses (Figure 1), In block 1, a pair of eight SNPs had an linkage disequilibrium: rs1682111, rs843752, rs10439478, rs843645, rs11125529, rs12615793, rs843711, and rs11896604 and block 2 was containing two SNPs: rs843706 and rs17045754. Haplotypes with frequency more than 1% in the present study were listed in Table 5. ...
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Objective
To investigate the association between polymorphisms of the interleukin 10 (IL10) gene and risk of gastric cancer (GC) and atrophic gastritis (AG).
Methods
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Schizophrenia (SCZ) is a highly heritable, chronic, severe psychiatric disorder associated with significant financial costs to families and societies. In this case-control study, we investigated the associations between seven SNPs in CHRNA3 gene and the risk of SCZ.
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Citations
... A total of 10 case-control studies with 5,230 cases and 5,086 controls for thirteen polymorphisms of ACYP2 gene met the inclusion criteria. [14][15][16][17][18][19][20][21][22][23] Nine studies of them were performed in Asians, one study was performed in Mix ethnicity. Controls of 6 studies were population-based controls, and 4 studies were hospital-based controls. ...
... The pooled results based on 6 included studies (including 1,873 cases and 2,349 controls) indicated that rs17045754 was significantly related to an [16,[18][19][20][21][22] (Figure 4, Table 3 [16,17,[19][20][21]23] (Figure 5, Table 3). ...
... The pooled results based on 6 included studies (including 1,873 cases and 2,349 controls) indicated that rs17045754 was significantly related to an [16,[18][19][20][21][22] (Figure 4, Table 3 [16,17,[19][20][21]23] (Figure 5, Table 3). ...
To provide a comprehensive account of the association of ACYP2 gene polymorphisms with susceptibility to cancer. A literature search for eligible candidate gene studies published before April 20, 2022 was conducted in the PubMed, Medline and Web of Science. The following combinations of main keywords were used: (ACYP2 OR acylphosphatase 2) AND (polymorphism OR mutation OR variation OR SNP OR genotype) AND (cancer OR tumor OR neoplasm OR malignancy OR carcinoma OR adenocarcinoma). Potential sources of heterogeneity were sought out via subgroup and sensitivity analysis. Publication bias were also estimated. Overall, a total of 10 articles with 5,230 cases and 5,086 controls for thirteen polymorphisms of ACYP2 gene were enrolled. We found that ACYP2 rs11125529, rs11896604, rs12615793, rs17045754, rs6713088, rs843645, rs843706, rs843711 and rs843752 were correlated with an increased risk of cancer. However, we found that ACYP2 rs12621038 might have less susceptibility to cancer. While for other polymorphisms, the results showed no significant association with cancer risk. ACYP2 rs11125529, rs11896604, rs12615793, rs17045754, rs6713088, rs843645, rs843706, rs843711 and rs843752 are associated with cancer risk. ACYP2 rs12621038 polymorphism is inversely associated with cancer risk.
... 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 cancer40 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, ...
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.
... We hypothesized that ACYP2 polymorphisms are associated with the risk of RCC. To test this hypothesis, we conducted a casecontrol 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., , 2017Fang et al., 2016;He et al., 2016;Li et al., 2017;Liang et al., 2016;Liu et al., 2016; and the risk of RCC in the Chinese Han population. ...
... Twelve SNPs (rs6713088, rs12621038, rs1682111, rs843752, rs10439478, rs843645, rs11125529, rs12615793, rs843711, rs11896604, rs17045754, and rs843720) in ACYP2 screened in previous research Chen et al., 2017;Fang et al., 2016;He et al., 2016;Li et al., 2017;Liang et al., 2016;Liu et al., 2016;Zhang et al., 2016) at a minor allele frequency (MAF) > 5% in the global population were examined in our study. The amplification and extension SNP primers were designed using the Agena Bioscience Assay Design Suite V2.0 software (https ://agena cx.com/onlinetools/ ). ...
Background:
Kidney 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.
Methods:
Twelve 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).
Results:
We 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.
Conclusion:
In 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.
... A total of 11 SNPs was selected for this study, and most of the 11 SNPs had been reported in the association study of other diseases. Single-nucleotide polymorphisms rs11125529, rs12615793, rs843711, rs11896604, and rs17045754 have been found to be associated with gastric cancer risk in Chinese ( Li et al., 2017). Single-nucleotide polymorphisms rs6713088 and rs843752 have been found to be associated with the risk of high-altitude pulmonary edema ( . ...
Background
Laryngeal squamous cell carcinoma (LSCC) is one of the most prevalent malignant neoplasms of the upper respiratory tract. Studies have confirmed that an unstable chromosome constitution promotes the progress of laryngeal tumorigenesis, and ACYP2 has been confirmed as a telomere length‐related gene. However, to date, the association between ACYP2 polymorphisms and LSCC susceptibility has not been investigated.
Methods
We performed this study to explore the effect of 11 single‐nucleotide polymorphisms (SNPs) in ACYP2 on LSCC susceptibility in Chinese Han males. Unconditional logistic regression analysis adjusted for age was used to calculate the odds ratios and 95% confidence intervals.
Results
Based on allele and genotype models, our results showed that rs1682111 variant was significantly associated with a decreased LSCC susceptibility (p < 0.05). On the contrary, polymorphisms of rs10439478, rs11125529, rs12615793, rs843711, rs11896604, and rs17045754 were significantly associated with an increased LSCC risk (p < 0.05). The results of haplotype analysis indicated that haplotypes “TTCTCG” and “TTCTAA” in block 1 and “TG” in block 2 showed a risk factor for the development of LCSS (p = 0.009, p < 0.001, and p = 0.001, respectively). The results of Genotype‐Tissue Expression analysis indicate that these significant SNPs were known to be associated with ACYP2 expression.
Conclusion
Our data demonstrated that ACYP2 polymorphisms may exert effects on LSCC susceptibility in Chinese Han males.
Hepatocellular carcinoma (HCC) is a multifactorial disease with both genetic and environmental factors contributing to its pathogenesis. ACYP2 is a gene that is related to cell differentiation, apoptosis and prevention of malignant tumors. The ACYP2 gene also affects telomere length. The aim of this study was to evaluate the association between ACYP2 single nucleotide polymorphisms (SNPs) (rs843711), and (rs843706) and incidence of HCC in Egyptian HCC patients. The study included 30 patients with HCC and 30 normal controls. Detection of ACYP2 gene SNPs rs843711, and rs843706 in all study participants was done using real time polymerase chain reaction (RT-PCR). The results showed that all participants including HCC patients and controls carried the heterozygous CA (100%) of the rs843706 SNP (p> 0.05). As for the rs843711, 3.3% of HCC patients had the homozygous TT genotype, 46.7% had the heterozygous CT genotype and 50% had the wild CC genotype, while in the control group, 60% had the heterozygous CT genotype and 40% had the wild CC genotype with no significant difference between both groups (p>0.05). We concluded that there was no association between SNPs ACYP2 rs843706 and rs843711 and occurrence of HCC.
Background/aims:
The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study.
Methods:
Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk.
Results:
We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01-1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01-2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04-1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05-10.51, p = 0.042) before Bonferroni correction.
Conclusion:
These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.
Background
Gastrointestinal cancer (GI cancer) is a type of cancer that has a high death rate. It has been reported that ACYP2 gene was associated with the development of gastric cancer and colorectal cancer, but it is not clear that the relationship between ACYP2 gene and GI cancer in Chinese Han population. This study aimed to investigate the association between polymorphisms of ACYP2 and GI cancer in the Chinese Han population.
Methods
We used Agena MassARRAY to determine the genotypes of 1,160 GI cancer patients and 495 healthy controls. The correlation between ACYP2 variants and GI cancer risk was examined by logistic regression analysis.
Results
We identified that rs6713088 (OR = 1.17, 95% CI: 1.00–1.36, p = 0.047), rs843711 (OR = 1.17, 95 CI: 1.01–1.36, p = 0.035), and rs11896604 (OR = 1.20, 95% CI: 1.00–1.45, p = 0.048) were correlated with an increased risk of GI cancer under allele model. Rs11125529 under the recessive model (OR = 2.05, 95% CI: 1.00–4.23, p = 0.038), rs843711 in recessive model (OR = 1.37, 95% CI: 1.04–1.82, p = 0.026), and rs11896604 under log‐additive model (OR = 1.23, 95% CI: 1.01–1.51, p = 0.042) were associated with an increased risk of GI cancer.
Conclusion
Our study suggested that polymorphisms of ACYP2 gene might be associated with susceptibility to GI cancer.
Background
Gastric cancer (GC), the second leading cause of cancer mortality behind lung cancer worldwide, is caused by both genetic and environmental factors. In this study, we evaluated the association between the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthesis reductase (MTR), and methyltransferase reductase (MTRR) genes and ischemic stroke risk in Chinese population.
Methods
A case–control study was conducted including 681 patients with GC and 756 healthy controls. Chi‐squared test/Fisher's exact test and genetic model were used to evaluate associations. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression.
Results
In the allele model, using the chi‐square test, we found that the rs1532268 in MTRR with a minor allele T was significantly associated with increased risk of GC (OR = 1.24, 95% CI, 1.00–1.53; p = 0.048). In the genetic model analysis, we identified that the single‐nucleotide polymorphism of the rs1801133 in MTHFR could increase the GC risk in the recessive model (OR = 1.31, 95% CI, 1.01–1.70; p = 0.042) and log‐additive model (OR = 1.19, 95% CI, 1.02–1.38; p = 0.025). In MTHFR, a strong linkage of rs2274976 and rs1801133 was detected. The haplotype “GC” in the MTHFR gene was found to prominently increase the risk of GC (OR = 1.26, 95% CI: 1.07–1.47; p = 0.005). Other haplotypes did not display the correlativity.
Conclusion
This study suggested that MTR and MTHFR polymorphisms may contribute to increase the risk of GC.
Purpose:
Malignant gliomas are the most common primary brain tumors. Various genetic factors play important roles in the development and prognosis of glioma. This study focuses on the impact of MPHOSPH6, TNIP1, and several other genes (ACYP2, NAF1, TERC, TERT, OBFC1, ZNF208, and RTEL1) on telomere length and how that affects the prognosis of glioma.
Materials and methods:
Forty-three polymorphisms in nine genes from 605 glioma patients were selected. The association between genotype and survival outcome was analyzed using the Kaplan-Meier method, Cox regression analysis, and the log-rank test.
Results:
The 1-year overall survival (OS) rates of patients younger than 40 years of age was higher than those in patients older than 40 years of age. The 1-year OS rate of patients who underwent total resection was higher than that of patients whose gliomas were not completely resected. The 1-year OS rates of patients undergoing chemotherapy and of patients who did not undergo chemotherapy were 39.90% and 26.80%, respectively. Univariate analyses showed that ACYP2 rs12615793 and TERT rs2853676 loci affected PFS in glioma patients; both ZNF208 rs8105767 and ACYP2 rs843720 affected the OS of patients with low-grade gliomas. Multivariate analyses suggested that MPHOSPH6 rs1056629 and rs1056654, and TERT rs2853676 loci were associated with good prognoses of patients with glioma or high-grade gliomas, whereas ZNF208 rs8105767 was associated with good prognosis of patients with low-grade glioma.
Conclusions:
Age, surgical resection, and chemotherapy influenced the survival rates of glioma patients. TERT, MPHOSPH6, ACYP2, and ZNF208 genes were found to affect glioma prognosis.
