An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome

Elbehairy, Mariam M.; Abdelnasser, Hala Y.; Hanafi, Rasha S.; Hassanein, Sally I.

doi:10.1016/j.steroids.2021.108825

Cited by 2 publications

(3 citation statements)

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“…NADSYN1 catalyzes the synthesis of NAD, a significant cofactor in multiple redox reactions, and may indirectly take part in the formation of VitD ( Prabhu et al, 2016 ). The polymorphisms of DHCR7/NADSYN1 participate in susceptibility to many diseases, including deficiency of VitD, acute coronary syndrome, Alzheimer’s disease and ULs ( Lu et al, 2012 ; Wise et al, 2014 ; Elbehairy et al, 2021 ; Liu et al, 2021 ). Three variants in DHCR7/NADSYN1 (rs11606033, rs3829251 and rs1790349) loci were tightly correlated to low levels of serum VitD ( Lu et al, 2012 ; Elbehairy et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

“…The polymorphisms of DHCR7/NADSYN1 participate in susceptibility to many diseases, including deficiency of VitD, acute coronary syndrome, Alzheimer’s disease and ULs ( Lu et al, 2012 ; Wise et al, 2014 ; Elbehairy et al, 2021 ; Liu et al, 2021 ). Three variants in DHCR7/NADSYN1 (rs11606033, rs3829251 and rs1790349) loci were tightly correlated to low levels of serum VitD ( Lu et al, 2012 ; Elbehairy et al, 2021 ). Notably, it was reported that NADSYN1 rs2276360 G > C was related to serum 25(OH)D3 deficiency ( Elbehairy et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

“…Three variants in DHCR7/NADSYN1 (rs11606033, rs3829251 and rs1790349) loci were tightly correlated to low levels of serum VitD ( Lu et al, 2012 ; Elbehairy et al, 2021 ). Notably, it was reported that NADSYN1 rs2276360 G > C was related to serum 25(OH)D3 deficiency ( Elbehairy et al, 2021 ). However, DHCR7 rs1044482 has not been found to be associated with VitD deficiency.…”

Section: Discussionmentioning

confidence: 99%

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Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas

et al. 2022

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Background: Uterine leiomyomas (ULs) is the most common gynecological benign tumor in women. Our previous study showed that the phenomenon of vitamin D deficiency existed in patients with ULs. However, the association of vitamin D anabolism-related gene polymorphisms and susceptibility to ULs was unclear.Methods: Vitamin D anabolism-related gene polymorphisms in 110 patients with ULs and 110 healthy controls were detected by sequencing and the differences of the 92 SNPs were analyzed in the two groups via chi-square test. To verify the association between the significantly different SNPs and the risk of ULs, the SNPs were genotyped in another 340 patients and 340 healthy controls. Additionally, an unconditional logistic regression model was conducted to calculate the odds ratio (OR) of ULs occurrence and the 95% confidence interval (CI), adjusting for age and BMI.Findings: In sequencing samples, there were differences in DHCR7 rs1044482 C > T (p = 0.008) and NADSYN1 rs2276360 G > C (p = 0.025) between patients with ULs and healthy controls. DHCR7 rs1044482 was related to the susceptibility to ULs in validation samples (heterogeneous: adjusted OR = 1.967, p = 0.002; homogenous: adjusted OR = 2.494, p = 0.002; additive: adjusted OR = 1.485, p < 0.041; and dominant: adjusted OR = 2.084, p < 0.001). Stratified analysis further showed that the DHCR7 rs1044482 polymorphisms were associated with ULs risks in women over 40 and with 18.5–25.0 BMI. In contrast to the wild-type CG haplotype vectors, individuals with TC haplotypes had a higher risk of developing ULs.Interpretation: The vitamin D anabolism-related gene DHCR7 rs1044482 C > T polymorphism was a risk factor of ULs, especially in patients over 40 with 18.5–25.0 BMI, while the relationship between NADSYN1 rs2276360 and ULs risk was not clear.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas

et al. 2022

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The Diagnostic Value of Combined Detection of Serum Lp-PLA2 and Hcy and Color Doppler in Elderly Patients with Acute Coronary Syndrome and Effect on Endothelial Function

Zhao

Luo

et al. 2022

Evidence-Based Complementary and Alternative Medicine

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Objective. To evaluate the application value of serum lipoprotein-associated phospholipase A2 (Lp-PLA2) and homocysteine (Hcy) combined with color Doppler detection in elderly patients with acute coronary syndrome (ACS) and the influence on their endothelial function. Methods. From February 2019 to October 2020, 100 elderly patients with suspected ACS treated in our hospital were recruited and assigned (1 : 1) to a control group or an experimental group. The control group received color Doppler detection, and the experimental group received the combined detection of serum Lp-PLA2 and Hcy and color Doppler. Positive results were determined by the combined detection of the levels of LP-PLA2 and Hcy and color Doppler. The two groups were compared in terms of specificity, susceptibility, positive detection rate, negative detection rate, test accuracy, the area under the receiver operating characteristic (ROC) curve (AUC), the expression levels of interleukin-2 (IL-2), interleukin-12 (IL-12), interleukin-13 (IL-13), and the vascular endothelial function. The patients with ACS were divided into three subgroups according to the Gensini score three-quartile interval, and their Lp-PLA2 levels were calculated for analysis. Results. The test specificity, susceptibility, positive detection rate, negative detection rate, test accuracy, and AUC in the experimental group were much better than the those in the control group (all P < 0.05 ), and there were no significant differences in the expression levels of IL-2, IL-12, IL-13, and vascular endothelial function between the two groups ( P > 0.05 ). The three subgroups showed similar levels of fasting blood glucose, total cholesterol, triglyceride, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, apolipoprotein A-I, glutamic-pyruvic transaminase, lutamic-oxaloacetic transaminase, homocysteine, and amino-terminal pro-brain natriuretic peptide (all P > 0.05 ). The severe condition group had the highest Lp-PLA2 level, followed by the moderate group, and then the mild group ( P < 0.05 ). Moreover, the levels of LP-PLA2, aspartate transaminase (AST), and N-terminal pro hormone B-type natriuretic peptide (NT-proBNP) were all influencing factors for the coronary Gensini score (all P < 0.05 ). Conclusion. The combined detection of serum Lp-PLA2, Hcy, and color Doppler significantly improves the diagnostic accuracy, specificity, and susceptibility in the elderly with ACS, with little impact on their vascular endothelial function.

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An intronic DHCR7 genetic polymorphism associates with vitamin D serum level and incidence of acute coronary syndrome

Cited by 2 publications

References 32 publications

Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas

Association of Vitamin D Anabolism-Related Gene Polymorphisms and Susceptibility to Uterine Leiomyomas

The Diagnostic Value of Combined Detection of Serum Lp-PLA2 and Hcy and Color Doppler in Elderly Patients with Acute Coronary Syndrome and Effect on Endothelial Function

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