Variants Around miR-451 Can Affect the Risk of Large-artery Atherosclerosis Stroke in Chinese

Abstract Background: Ischemic stroke has high incidence rate, mortality rate and disability rate. Genetic factors have a significant impact on stroke risk. MicroRNAs are a class of small non-coding RNA. Intergenic variants can affect the regulation of microRNAs and modulate large-artery atherosclerosis stroke susceptibility. The low expression of miR-451 aggravated ischemic injury significantly.Methods: Functional intergenic variants near hsa-mir-451 were identified by bioinformatics analysis. We conducted a case-control study to explore the associations of selected variants with large-artery atherosclerosis stroke risk in Chinese.Results: The rs901975 (G>A) near hsa-mir-451 was identified as a functional SNP for stroke susceptibility. The protective effect of A allele was significant in codominant model (OR = 0.62, 95% CI = 0.44-0.89, P = 0.005), recessive model (OR = 0.65, 95% CI = 0.47-0.89, P = 0.006) and log-additive model (OR = 0.82, 95% CI = 0.71-0.96, P = 0.012). We also found the significant effect in participants over 65 years old, male, hypertensive and diabetic people. Moreover, hypertensive people genotyped as GG+GA had 2.84 - fold increased risk compared with those genotyped as AA without hypertension (P interaction = 0.036). In the MEGASTROKE Consortium, rs901975 A allele also had protective effect on LAA stroke in Europeans (OR = 0.937, 95% CI: 0.882-0.996, P = 0.036). Combined analysis of our study and MEGASTROKE showed consistent trend (OR = 0.920, 95% CI: 0.869-0.973, P = 0.004).Conclusions: Our study suggested that rs901975 near hsa-mir-451 might affect large-artery atherosclerosis stroke susceptibility in Chinese population.

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Genotype Analysis of ABCC1, NCF4 and CBR3 Polymorphism and the Association With Childhood Acute Lymphoblastic Leukemia in Mexican Childhood Population

Frontiers in Pharmacology ◽

10.3389/fphar.2020.616630 ◽

2021 ◽

Vol 11 ◽

Author(s):

Jesús Alonso Gándara-Mireles ◽

Ismael Lares-Asseff ◽

Elio Aarón Reyes Espinoza ◽

Javier G. Blanco ◽

Isaias Chairez Hernández ◽

...

Keyword(s):

Acute Lymphoblastic Leukemia ◽

Protective Effect ◽

Protective Factor ◽

Lymphoblastic Leukemia ◽

Recessive Model ◽

Increased Risk ◽

Codominant Model ◽

Inheritance Model ◽

Childhood Population ◽

Thermal Cycler

Background: The identification of genetic risk factors for Acute Lymphoblastic Leukemia (ALL), are increasingly urgent and necessary.Objective: The purpose of this study is to determine the association of the genetic polymorphisms ABCC1 rs3743527, NCF4 rs1883112 and CBR3 rs1056892 with ALL.Methods: DNA samples were obtained in 71 children with ALL (from 2 to 18 years) and in 71 controls without ALL, to determine the polymorphisms by real-time polymerase chain reaction (qPCR), using specific TaqMan probes in a StepOne® thermal cycler (Applied Biosystems, United States).Results: The results of the Odds Ratio analysis show that in the rs1883112 polymorphism of the NCF4 gene, the heterozygous allele has a risk effect for ALL (OR = 3.1870, CI = 1.8880–7.9383 and p = 0.0002), in turn the mutated genotype (AA) is associated with a protective effect (OR = 0.26, 0.1248 to 0.5434 and p = 0.0003). On the other hand, the CBR3 rs1056892 polymorphism shows a significant association of risk to ALL, in the presence of the HT genotype (OR = 2.77, IC = 1.3837 to 5.5651 and p = 0.004) and the mutated genotype of this polymorphism has a significant association with protection to ALL in the HM genotype (OR = 0.52, IC = 0.2639 to 1.0304 and p = 0.05). While the inheritance models of the polymorphisms let us see that of the rs1883112 polymorphism of the NCF4 polymorphism; the HT genotype of the codominant model shows a protective effect against ALL (OR = 0.4117, IC = 0.1718 to 0.9866 and p = 0.04), the recessive model shows us and confirms what we already saw in table number 3, being that there is an association with protective effect in the HM genotype (OR = 0.2604, IC = 0.1248 to 0.5434 and p = 0.0003). In the polymorphism rs1056892 of the CBR3 gene, a protection association was found in the heterozygous allele of the codominant model (OR = 0.3448, IC = 0.1375 to 0.8896 and p = 0.0274). In addition, the recessive inheritance model for the HM genotype shows a protective effect to ALL, (OR = 0.52, CI = 0.9919 to 3.8638 and p = 0.05).Conclusion: There is an evident impact of the NCF4 rs1883112 and CBR3 rs1056892 polymorphisms with an increased risk of susceptibility to ALL; Likewise, through the codominant inheritance model, the effect of the variation of the CBR3 rs1056892 gene as a protective factor against ALL was evaluated.

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EDNRA Gene rs1878406 Polymorphism is Associated With Susceptibility to Large Artery Atherosclerotic Stroke

Frontiers in Genetics ◽

10.3389/fgene.2021.783074 ◽

2022 ◽

Vol 12 ◽

Author(s):

Wan Wei ◽

Xianjun Xuan ◽

Jiahui Zhu ◽

Tianwen Chen ◽

Yudan Fang ◽

...

Keyword(s):

Stroke Risk ◽

Interactive Effect ◽

Recessive Model ◽

Chinese Han Population ◽

Large Artery ◽

Regression Analyses ◽

Multivariate Logistic Regression ◽

Chinese Han ◽

Han Population ◽

Increased Risk

Objective: We performed this study to investigate whether the EDNRA gene rs1878406 C > T polymorphism is associated with risk of large artery atherosclerosis (LAA) stroke in the Chinese Han population.Methods: Genotyping of rs1878406 was performed in 1,112 LAA stroke patients and 1,192 healthy controls. Multivariate logistic regression analyses were applied to assess the effect of the rs1878406 C > T polymorphism on susceptibility to LAA stroke.Results: A significant increase of LAA stroke risk was found in the recessive model (TT vs. CC/TC, OR = 1.74, 95% CI = 1.23–2.48, p = 0.002) and co-dominant model (TC vs. CC, OR = 1.06, 95% CI = 0.89–1.27, TT vs. CC, OR = 1.79, 95% CI = 1.25–2.55, p = 0.006). However, the interaction between age and genotypes of rs1878406 was not statistically significant, and no significant interactive effect was observed between the rs1878406 C > T polymorphism and sex (p > 0.05).Conclusion: The rs1878406 C > T polymorphism is associated with increased risk of LAA stroke in the Chinese Han population.

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Correlations between Genetic Polymorphisms in Long Non-Coding RNA PRNCR1 and Gastric Cancer Risk in a Korean Population

International Journal of Molecular Sciences ◽

10.3390/ijms20133355 ◽

2019 ◽

Vol 20 (13) ◽

pp. 3355 ◽

Cited By ~ 5

Author(s):

Jang Hee Hong ◽

Eun-Heui Jin ◽

Hyojin Kang ◽

In Ae Chang ◽

Sang-Il Lee ◽

...

Keyword(s):

Gastric Cancer ◽

Binary Logistic Regression ◽

Tumor Stage ◽

Recessive Model ◽

Stage Iii ◽

Negative Results ◽

Non Coding Rna ◽

Increased Risk ◽

Gender And Age ◽

Chi Squared

We evaluated the association between prostate cancer non-coding RNA 1 (PRNCR1) polymorphisms and the risk of developing gastric cancer (GC) and GC subgroups in Korea. A case–control study was conducted with 437 GC patients and 357 healthy controls using a TaqMan genotyping assay. A chi-squared test, binary logistic regression, and genetic models were used to explore the association between five PRNCR1 polymorphisms and GC risk. After adjusting for gender and age, overall analyses using the recessive model indicated that the rs13252298 GG genotype was significantly associated with increased risk of intestinal-type gastric cancer (IGC). In the stratification analyses, the recessive model indicated that the rs1016343 TT genotype was significantly associated with decreased GC risk in individuals aged <60 years showing lymph node metastasis (LNM)-negative results. The rs13252298 GG genotype in the recessive model showed increased GC risk in subjects aged ≥60 years showing LNM-positive results and those aged ≥60 years in tumor stage III. In the dominant model, the rs16901946 combined genotype (AG/GG) was significantly associated with increased GC risk in subjects aged <60 years with tumor stage III. In the recessive model, the rs16901946 GG genotype was associated with decreased risk of GC and IGC in males aged ≥60 years. Thus, genetic variations in PRNCR1 may contribute to susceptibility to GC.

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Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population

Kidney & Blood Pressure Research ◽

10.1159/000501703 ◽

2019 ◽

Vol 44 (4) ◽

pp. 810-822

Author(s):

Gang Jin ◽

Yan Liang ◽

Xiaohui Yan ◽

Linping Zhang ◽

Zhenjiang Li ◽

...

Keyword(s):

Association Studies ◽

Immunoglobulin A ◽

Additive Model ◽

Recessive Model ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Bonferroni Correction ◽

Chinese Han ◽

Han Population ◽

Increased Risk

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.

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Effects of ANRIL variants on the risk of ischemic stroke: a meta-analysis

Bioscience Reports ◽

10.1042/bsr20182127 ◽

2019 ◽

Vol 39 (5) ◽

Cited By ~ 1

Author(s):

Cheng Tan ◽

Junzhi Liu ◽

Jun Wei ◽

Shoujun Yang

Keyword(s):

Ischemic Stroke ◽

Confidence Intervals ◽

Meta Analysis ◽

Recessive Model ◽

Individual Susceptibility ◽

Non Coding Rna ◽

Increased Risk ◽

Subgroup Analyses ◽

The Relationship ◽

Allele Model

Abstract Background : Several studies investigated the relationship between antisense non-coding RNA in the INK4 locus (ANRIL) variants and the risk of ischemic stroke (IS), yet whether ANRIL variants are associated with IS remain controversial. Therefore, we performed the present study to obtain a more conclusive result. Methods: Literature retrieval was conducted in PubMed, Medline and Embase. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Results: Eighteen studies were enrolled for analyses. Pooled overall analyses showed that rs2383206 (recessive model: P=0.002, OR = 1.22, 95%CI 1.08–1.38; allele model: P=0.003, OR = 0.90, 95%CI 0.84–0.96) and rs10757274 (allele model: P=0.006, OR = 0.91, 95%CI 0.86–0.97) variants were significantly associated with an increased risk of IS. Further subgroup analyses by ethnicity revealed that rs2383206, rs10757274 and rs10757278 variants were all significantly correlated with an increased risk of IS in Asians. Additionally, rs10757278 polymorphism was also significantly correlated with an increased risk of IS in Caucasians. Conclusions: Our findings indicated that rs2383206, rs10757274 and rs10757278 variants may impact individual susceptibility to IS in Asians. Moreover, rs10757278 polymorphism may also impact individual susceptibility to IS in Caucasians.

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Association study of relationships of polymorphisms in the miR-21, miR-26b, miR-221/222 and miR-126 genes with cervical intraepithelial neoplasia and cervical cancer

BMC Cancer ◽

10.1186/s12885-021-08743-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Jia Yang ◽

Zhiling Yan ◽

Yingying Wang ◽

Jinmei Xu ◽

Rui Li ◽

...

Keyword(s):

Cervical Cancer ◽

Cervical Intraepithelial Neoplasia ◽

Additive Model ◽

Intraepithelial Neoplasia ◽

Recessive Model ◽

Cancer Development ◽

Nucleotide Polymorphisms ◽

Mirna Genes ◽

Increased Risk ◽

Cervical Cancer Development

Abstract Background miR-21, miR-26b, miR-221/222 and miR-126 play crucial roles in cervical cancer development. Studies have shown that polymorphisms in miRNA genes can affect miRNA expression, which might be associated with cancer development. Methods Ten single-nucleotide polymorphisms (SNPs) in the miR-21, miR-26b, miR-221/222 and miR-126 genes (rs1292037, rs13137 in miR-21; rs2227255, rs2227258 in miR-26b; rs2858061, rs34678647, rs2858060, rs2745709 in miR-221/222; rs2297537, rs2297538 in miR-126) were selected, and genotyped in a total of 2176 individuals, including 435 patients with cervical intraepithelial neoplasia (CIN), 743 patients with cervical cancer (CC) and 998 healthy persons using TaqMan assays, and their associations with CIN and CC were evaluated. Results Our results showed significant differences for the rs2297538 genotypes between the CIN and CC groups (P = 0.001). In addition, our results also showed significant differences for the rs2297537 alleles between the CIN and CC groups (P = 0.003), and the C allele of rs2297537 might be associated with a decreased risk of CC (OR = 0.72, 95%CI: 0.58–0.90). At the inheritance analysis, between the CIN and control groups, the T/T-T/C genotype in rs1292037 and A/A-A/T genotype in rs13137 might be associated with an increased risk of CIN in the recessive model (OR = 1.61, 95% CI: 1.17–2.20 and OR = 1.58, 95% CI: 1.15–2.15). In addition, the C/C-T/T genotype of rs2745709 might be associated with a decreased risk of CIN in the overdominant model (OR = 0.66, 95% CI: 0.52–0.82). Between, CIN and CC group, the T/T-C/C genotype in rs1292037 and A/A-T/T genotype in rs13137 might be associated with an increased risk of CC in the overdominant model (OR = 1.43, 95% CI: 1.12–1.81 and OR = 1.42, 95% CI: 1.12–1.80). The rs2297538 G/G-A/G genotype might be associated with an increased risk of CC in the recessive model (OR = 2.83, 95% CI: 1.52–5.25). The rs2297537 2C/C + C/G genotype might be associated with a decreased risk of CC (OR = 0.71, 95% CI: 0.57–0.89) in the log-additive model. The rs2745709 T/T-C/C genotype might be associated with an increased risk of CC (OR = 1.44, 95% CI: 1.13–1.83) in the overdominant model. Conclusion Our results indicate that rs2297538 and rs2297537 in miR-126, rs1292037 and rs13137 in miR-21, and rs2745709 in miR-221/222, may have important roles in the development of CIN or CC.

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Vitamin D receptor Bsm I polymorphism and osteoporosis risk in postmenopausal women: a meta-analysis from 42 studies

Genes & Nutrition ◽

10.1186/s12263-020-00679-9 ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Jun Long Liao ◽

Qiang Qin ◽

Yong Sheng Zhou ◽

Ru Ping Ma ◽

He Chao Zhou ◽

...

Keyword(s):

Gene Polymorphism ◽

Postmenopausal Women ◽

Meta Analysis ◽

Additive Model ◽

Recessive Model ◽

Case Control Studies ◽

Genotype Frequencies ◽

Increased Risk ◽

Stratified Analysis ◽

Osteoporosis Risk

Abstract Objective This study aimed to quantitatively summarize the evidence for VDR BsmI gene polymorphism and osteoporosis risk in postmenopausal women. Materials and methods The PubMed, EMBASE, Weipu, CNKI, and Wanfang databases were searched for eligible studies. Case-control studies containing available genotype frequencies of B/b were chosen, and odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of this association. Results 4485 osteoporosis and 5490 controls were identified in our meta-analysis. In the stratified analysis, a significant association was observed between VDR BsmI gene polymorphism and osteoporosis susceptibility in Caucasians (additive model: OR = 0.809, 95% CI 0.678~0.965, p = 0.019; recessive model: OR = 0.736, 95% CI 0.568~0.955, p = 0.021; and co-dominant model: bb vs. BB OR = 0.701, 95% CI 0.511~0.962 p = 0.028), and we failed to find any significant relationship in Asians. Conclusion The present meta-analysis suggests that VDR BsmI genotype is associated with increased risk of postmenopausal osteoporosis in Caucasians but not in Asians. To draw comprehensive and true conclusions, further prospective studies with larger numbers of participants worldwide are needed to examine associations between VDR BsmI polymorphism and osteoporosis in postmenopausal women.

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Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population

Frontiers in Immunology ◽

10.3389/fimmu.2021.640083 ◽

2021 ◽

Vol 12 ◽

Author(s):

Chenxi Liu ◽

Songxin Yan ◽

Haizhen Chen ◽

Ziyan Wu ◽

Liubing Li ◽

...

Keyword(s):

Systemic Sclerosis ◽

Genetic Model ◽

Additive Model ◽

Recessive Model ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Association Analyses ◽

Han Population ◽

Increased Risk

ObjectivesSystemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.MethodA case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.ResultOur study demonstrated that the GTF2I rs117026326 T allele and the GTF2I rs73366469 C allele were strongly associated with patients with SSc (P = 6.97E-10 and P = 1.33E-08, respectively). Patients carrying the GTF2I rs117026326 TT genotype and the GTF2I rs73366469 CC genotype had a strongly increased risk of SSc (P = 6.25E-09 and P = 1.67E-08, respectively), and those carrying the NFKB1 rs1599961 AA genotype had a suggestively significantly increased risk of SSc (P = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) (P < 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models (P = 0.0026). TYK2 rs2304256 was not significantly associated with SSc in this study.ConclusionGTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. NFKB1 rs1599961 showed a suggestive association with SSc, and no significant association was found between TYK2 rs2304256 and SSc in this Chinese Han population.

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Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease

Frontiers in Cardiovascular Medicine ◽

10.3389/fcvm.2021.704501 ◽

2021 ◽

Vol 8 ◽

Author(s):

Xueyan Zhao ◽

Jingjing Xu ◽

Xiaofang Tang ◽

Keyong Huang ◽

Jiawen Li ◽

...

Keyword(s):

Genetic Variants ◽

Recessive Model ◽

Nucleotide Polymorphisms ◽

Dominance Model ◽

Single Nucleotide ◽

Vessel Disease ◽

Triple Vessel Disease ◽

Increased Risk ◽

Codominant Model ◽

Niemann Pick

Background: Both Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) play a key role on dyslipidaemia. We aim to evaluate whether NPC1L1 and HMGCR genetic variants are associated with susceptibility of premature triple-vessel disease (PTVD).Methods: Four single-nucleotide polymorphisms (SNPs) (rs11763759, rs4720470, rs2072183, and rs2073547) of NPC1L1; and three SNPs (rs12916, rs2303151, and rs4629571) of HMGCR were genotyped in 872 PTVD patients (males ≤ 50 years old and females ≤ 60 years old), and 401 healthy controls.Results: After adjusting for age and sex, rs12916 of HMGCR was associated with the risk of PTVD in dominance model [odds ratio (OR) = 1.68, 95% confidence intervals (CI): 1.29–2.18, P < 0.001], recessive model (OR = 1.43, 95% CI: 1.08–1.90, P = 0.013) and codominant model (OR = 1.38, 95% CI: 1.17–1.63, P < 0.001); meanwhile, rs4720470 of NPC1L1 was related to increased risk of PTVD in recessive model (OR = 1.74, 95% CI: 1.14–2.74, P = 0.013). Patients who carried both variant rs4720470 and rs12916 also had the risk of PTVD (P < 0.001); however, there were no correlation between these SNPs and the SNYTAX score (all P > 0.05).Conclusions: This is the first report that rs4720470 is a novel polymorphism of the NPC1L1 gene associated with PTVD, and rs12916 of HMGCR gene appears to be a strong genetic marker of PTVD. Our study may improve the early warning, therapeutic strategies and drug development of PTVD.

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FGFR2 gene polymorphism rs2981582 is associated with non-functioning pituitary adenomas in Chinese Han population: a case–control study

Bioscience Reports ◽

10.1042/bsr20181081 ◽

2018 ◽

Vol 38 (6) ◽

Cited By ~ 3

Author(s):

Bin Zhu ◽

Juan Wang ◽

Lingling Qin ◽

Lei Wang ◽

Yanfei Zheng ◽

...

Keyword(s):

Additive Model ◽

Growth Factor Receptor ◽

Recessive Model ◽

Chinese Han ◽

Fgfr2 Gene ◽

Potential Association ◽

Increased Risk ◽

Significant Difference ◽

Healthy Control

The association of the fibroblast growth factor receptor 2 gene (FGFR2) polymorphism rs2981582 with breast cancer has been extensively studied, whereas the role of this polymorphism in non-functioning pituitary adenoma (NFPA) has not been elucidated. We thus investigated a potential association of rs2981582 with NFPA. A total of 79 patients and 142 healthy control participants were enrolled in our study. DNA of the participants was extracted from peripheral blood samples and genotyped by using the MassARRAY method. We found that the AA genotype was associated with a higher risk of developing NFPA (OR = 1.743, 95%CI: 1.151–2.64, P=0.008). After adjusting for risk factors, significant difference was still observed between the two groups (OR = 1.862, 95%CI: 1.172–2.957, P=0.008). Moreover, under the assumptions of the recessive model (OR = 3.051, 95%CI: 1.403–6.635, P=0.005) and the additive model (AG: OR = 0.329, 95%CI: 0.144–0.755, P=0.009; AA: OR = 0.326, 95%CI: 0.141–0.757, P=0.009), rs2981582 was associated with an increased risk of NFPA. Our results proved that FGFR2 rs2981582 AA genotype was associated with a higher risk of NFPA. The recessive model and additive model also showed increased the risk of NFPA.

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