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Haplotype block map for SNPs in CYP11B1. Block 1 includes rs4736312, rs5017238, rs5301, rs5283, rs6410 and rs4534. The numbers inside the diamonds indicate the D’ for pairwise analyses.
Source publication
Background
Genetic factors are important risk factors to develop coronary heart disease (CHD). In this study, we mainly explored whether CYP11B1 mutations influence CHD risk among Chinese Han population.
Methods
Six variants were genotyped using Agena MassARRAY system from 509 CHD patients and 509 healthy controls. The correlations between CYP11B1...
Citations
... Notably, the homology shared between CYP11B1 and CYP11B2 underscores potential similarities in their regulatory mechanisms, emphasizing the relevance of the findings in understanding the hormonal balance and cardiovascular health (Zhang et al., 2010). These insights further underscore the potential significance of HEC and HA in modulating cardiovascular health through their effects on hormone synthesis pathways (Huang et al., 2022). Downregulation of CYP11B1 gene expression by HEC and HA suggests their non-selective inhibitory effects, potentially may impact metabolic and inflammatory pathways by interfering with cortisol and corticosterone synthesis. ...
... CHD is a complex polygenic genetic disease affected by genetic factors. At present, several gene SNPs have been found to be associated with CHD risk, such as UTS2 (Ser89Asn) [18], CDKN2B-AS1 (rs10738606) [1], GLUT4 (rs5418) [19], CYP11B1 (rs4534, rs6410 and rs5283) [20], CYP24A1 (rs6068816 and rs2296241) [21] and AGT (rs2493132) [22]. Considering that the connection of CYP4V2 polymorphisms with CHD risk has not been reported, five SNPs (rs1398007, rs13146272, rs3736455, rs1053094 and rs56413992) in CYP4V2 gene were eventually genotyped in this study and their association with CHD risk were explored. ...
Purpose
The research aimed to detect the association between single nucleotide polymorphisms (SNPs) in CYP4V2 gene and coronary heart disease (CHD) risk.
Methods
This case–control study included 487 CHD subjects and 487 healthy individuals. Logistic regression was performed to analyze the connection between five SNPs in CYP4V2 (rs1398007, rs13146272, rs3736455, rs1053094, and rs56413992) and CHD risk, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to evaluate the connection.
Results
As a result, we found that rs56413992 T allele (OR = 1.36, 95% CI = 1.09–1.70, p = 0.007) and CT genotype (OR = 1.40, 95% CI = 1.06–1.83, p = 0.017) were significantly associated with an increased risk of CHD in the overall analysis. Precisely, rs56413992 was linked to an elevated risk of CHD in people aged > 60, males, smokers and drinkers. The study also indicated that rs1398007 was linked to an increased CHD risk in drinkers. In addition, rs1053094 was correlated with a decreased risk of CHD complicated with diabetes mellitus (DM), and rs1398007 was correlated with a decreased risk of CHD complicated with hypertension (HTN).
Conclusion
This study was the first to experimentally demonstrate that CYP4V2 rs56413992 was associated with the risk of CHD, which will provide a certain reference for revealing the pathogenesis of CHD.
... and encodes the steroid 11 β-hydroxylase, which influences the synthesis of aldosterone and activates cellular pathways to promote hypertension and cardiovascular disease (Hussain and Awan, 2018). CYP11B1 genetic variants are involved in the occurrence and progression of important clinical abnormalities such as late-life depression (Ancelin et al., 2021), Cushing's syndrome (Valassi et al., 2017), hypertensive patients (Hussain et al., 2020), autism (Deng et al., 2016), and coronary heart disease (Huang et al., 2022). The CYP11B1 and CYP11B2 genes share 90-95% sequence identity in their non-coding and coding regions. ...
Objectives
Ischemic stroke (IS) is the major cause of death and disability. While previous studies confirmed that CYP11B1 is closely associated with IS, the present study aimed to analyze the impact of CYP11B1 gene polymorphisms on the IS susceptibility.
Methods
The present study genotyped six single nucleotide polymorphisms (SNPs) (including rs4736312, rs5017238, rs5301, rs5283, rs6410, and rs4534) of CYP11B1 in peripheral blood samples from IS and control populations. Logistic regression analysis was used to analyze the association between the SNPs and IS risk. The multifactor dimensionality reduction (MDR) method was used to determine the roles of SNP–SNP interactions in IS.
Results
The present study showed that rs5283 was associated with an increased susceptibility to IS [odds ratio (OR) 1.81, p = 0.012]. On the contrary, rs6410 had a protective influence on IS risk (OR 0.56, p = 0.020). Stratified analyses indicated that rs5283 could enhance the risk of IS in subjects aged >63 years (OR 2.41, p = 0.011), of female gender (OR 3.31, p = 0.001), that do not smoke (OR 1.64, p = 0.005), and with hypertension (OR 2.07, p = 0.003). Whereas, rs6410 was related to a lower susceptibility to IS in subjects aged >63 years (OR 0.43, p = 0.032), of female gender (OR 0.30, p = 0.006), do not smoke (OR 0.42, p = 0.017), and with hypertension (OR 0.52, p = 0.022). Besides, rs4736312 reduced the IS susceptibility in non-smokers (OR 0.69, p = 0.031). Rs4534 had a risk-decreasing impact on IS in non-drinking (OR 0.54, p = 0.016). Moreover, the results of the MDR analysis corroborate that the best prediction model for IS was rs5283.
Conclusion
This study revealed that CYP11B1 gene polymorphisms strongly correlated with IS in the Chinese Han population.
Coronary heart disease (CHD) is a prevalent heart disease with the high incidence and mortality rates worldwide, and its pathogenesis is related to genetic factors. L3MBTL3 has been reported to be potentially linked to CHD susceptibility. This study aims to explore the correlation between L3MBTL3 single nucleotide polymorphisms (SNPs) and CHD risk in the Chinese population. Three SNPs (rs1125970 A/T, rs4897367 T/C, and rs2068957 A/G) in L3MBTL3 from 649 patients with CHD and 649 healthy controls were genotyped using the Agena MassARRAY platform. The relationship between SNPs and CHD risk was evaluated by logistic regression analysis. Our study indicated that rs1125970 (TT: OR = 0.76, p = 0.014) and rs4897367 (TT: OR = 0.74, p = 0.021) were related to a decreased susceptibility to CHD. Stratified analyses showed that rs1125970 could reduce the risk of CHD in males, subjects aged< 60 years, with a BMI< 24 kg/m2, and non-hypertensive patients. Rs4897367 exerted a risk-decreasing influence on CHD in non-diabetic patients. In the haplotype analysis, individuals with the Trs4897367Ars2068957 haplotype were less likely to develop CHD (OR = 0.74, p = 0.024). In summary, L3MBTL3 rs1125970 and rs4897367 were significantly correlated with a decreased susceptibility to CHD in the Chinese population.
