Genetic variations in the growth arrest-specific 6 protein gene in patients with acute coronary syndrome

2016 ◽  
Vol 33 (2) ◽  
pp. 65
Author(s):  
MohamedM Elshafey ◽  
JehanH Sabry ◽  
OmniaE Abdalla ◽  
RaniaF Abdel Ghany
2019 ◽  
Vol 97 (12) ◽  
pp. 1152-1158 ◽  
Author(s):  
Marina Sherif Fam ◽  
Sally I. Hassanein ◽  
Mohamed Farouk Abdel Rahman ◽  
Reem Amr Assal ◽  
Rasha Sayed Hanafi ◽  
...  

Cardiovascular diseases remain a major public health burden worldwide. It was reported that vitamin D protects the cardiovascular system through several mechanisms mainly by hindering atherosclerosis development. Genetic variations in vitamin D metabolic pathway were found to affect vitamin D levels. This study aimed at investigating the association between single nucleotide polymorphisms in genes involved in vitamin D metabolism, CYP27B and CYP24A1; 25-hydroxyvitamin D (25(OH)D) levels; and susceptibility to acute coronary syndrome (ACS). One hundred and eighty-five patients and 138 healthy controls were recruited. CYP24A1 rs2762939 was genotyped using fast real-time PCR, while CYP24A1 rs4809960 and CYP27B1 rs703842 were genotyped using polymerase chain reaction followed by restriction fragment length polymorphism (PCR–RFLP). 25(OH)D3 and 25(OH)D2 levels were measured using ultra-performance liquid chromatography tandem mass spectrum. Vitamin D level was significantly lower in patients than controls (p < 0.05). The GG genotype of rs2762939 was significantly associated with the risk of ACS development, but not correlated to the vitamin D level. rs4809960 and rs703842 genetic variations were not associated with ACS nor with 25(OH)D level. The genetic variant rs2762939 of CYP24A1 is remarkably associated with ACS. Meanwhile, the variants rs4809960 and rs703842 are not associated with ACS incidence.


Author(s):  
Victoria Yu. Garbuzova ◽  
Veronika L. Gurianova ◽  
Alexandr N. Parkhomenko ◽  
Viktor E. Dosenko ◽  
Alexander V. Ataman

Heart ◽  
2012 ◽  
Vol 98 (Suppl 2) ◽  
pp. E189.3-E190
Author(s):  
He Guo-ping ◽  
Hui Jing-jiao ◽  
Shen Dan-dan ◽  
He Guo-ping

2011 ◽  
Vol 57 (3) ◽  
pp. 16-24 ◽  
Author(s):  
VIu Harbuzova ◽  
◽  
VL Hur'ianova ◽  
OM Parkhomenko ◽  
VIe Dosenko ◽  
...  

2019 ◽  
Vol 16 (3) ◽  
pp. 81-87
Author(s):  
Robert S. Bogachev ◽  
Anastasia Y. Kozel ◽  
Larisa S. Litvinova ◽  
Larisa V. Mikhailova ◽  
Elena S. Shytova ◽  
...  

BACKGROUND: Vitamin D binding protein is a main vitamin D carrier in serum. It also has an impact on macrophagial function. Role of vitamin D and macrophages in the pathogenesis of atherosclerosis is scientifically proven but there is lack of data on vitamin D binding protein in this regard. AIMS: To evaluate the vitamin D binding protein polymorphism in patients with acute coronary syndrome without diabetes mellitus, autoimmune diseases and malignant tumors. Determine correlation, if there is, between vitamin D binding protein allele and features of acute coronary syndrome among this patient group. MATERIALS AND METHODS: It is a cross-sectional observational study. Study subjects are patients with acute coronary syndrome. Exclusion criteria are the presence of diabetes mellitus, autoimmune diseases and malignant tumors. In all participants were evaluated: predisposing factors for heart diseases, CBC, biochemical blood test, troponin, coronarography, echocardiography. The study lasted for 5 months from November 2017 until March 2018. Primary end point assessment of vitamin D binding protein polymorphysm in this group of patients with acute coronary syndrome by means of vitamin D binding protein gene sequencing. 50 patients were enrolled into this study who were urgently admitted to hospital and diagnosed with acute coronary syndrome. Among them 36 males and 14 females. Mean age was 60 (55;66) years. All participants were sequenced for single nucleotide polymorphysm in VDBP p.T436K (rs4588) and P.432E (rs7041). RESULTS: Gene polymorphysms of interest were found in 43 patients among 50 enrolled. Haplotype Gc1s/2 (rs7041G-rs4588A) was found in 7 (14%) patients, Gc2 (rs7041T-rs4588A) in 9 (18%) patients, Gc1s (rs7041G-rs4588C) in 20 (40%) patients, Gc1f (rs7041T-rs4588C) in 14 (28%). Coronarography showed that coronary artery occlusions obstructing more than 50% of vessel lumen was found in 16 patients; obstruction greater than 90% was seen in 8 patients; total occlusion in 4 patients. CONCLUSIONS: In patient group with acute coronary syndrome prevalence of vitamin D binding protein gene polymorphysm was high in 86% of participants. The features of Gc2 haplotype were higher frequency of recurrent myocardial infarction and total coronary artery occlusion, as well as tendency to decreased serum vitamin D3 (25(OH)D) levels.


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