Recombinant Human Cytochrome P450 11B2, mitochondrial (CYP11B2)

1. Hybrid gene (8q24.3) due to unequal crossing (8q24.3) over cause Na over reabsorption in the distal nephron and volume expansion leading to Monogenic Hypertension Syndrome in children. PMID: 29229168
2. The research reveals that among patients with essential hypertension treated with hypotensive drugs there are certain relationships between the rs5182 and rs5186 polymorphisms of the AGTR1 gene, as well as between the rs1799998 polymorphism of the CYP11B2 gene and the volume of the carotid bodies. PMID: 29627490
3. Frequencies and distribution of genotype TT of CYP11B2 (C-344T) gene polymorphism among South African Black women, especially those without HIV infection, may prevent them from developing preeclampsia. PMID: 29523271
4. Aldosterone-producing adenomas (APAs) exhibit different patterns of CYP11B2 staining that vary from uniform to homogeneous. Approximately 30% of patients with unilateral hyperaldosteronism do not have an APA, but either have an increased number of CYP11B2 expressing micronodules or hyperplasia of the zona glomerulosa. [review] PMID: 29202495
5. In conclusion, our meta-analysis indicated that subjects with TT genotype might have higher risk of developing LVH in northern Han Chinese. PMID: 28692307
6. study demonstrated significant genetic interaction on Na intake with child obesity by salt-sensitive genes variations, NEDD4L and CYP11beta2 PMID: 28017963
7. The combination of the V386A mutation with the variant CYP11B2 173(Arg) only slightly reduces the 18-hydroxylase and 18-oxidase activity, whereas the V386A mutation with the CYP11B2 173(Lys) variant almost abolishes the 18-hydroxylation and 18-oxidation. In both cases the 11-hydroxylase activity is not affected. PMID: 28190867
8. The AG genotype frequency of single nucleotide polymorphism rs542092383 was significantly associated with an increased risk of Essential Hypertension among northern Han Chinese. PMID: 28953657
9. the cellular distribution of CYP11B2, CYP11B1, CYP17A1 and KCNJ5 in adrenals from two familial hyperaldosteronism type 3 siblings, was examined. PMID: 27793677
10. Aging is associated with a pattern of decreased normal zona glomerulosa CYP11B2 expression. PMID: 28566337
11. CYP11B2 methylation was found in patients with aldosterone producing adenomas. PMID: 27754862
12. In European continental ancestry patients the C allele (CC or CT) at -344T/C SNP in the aldosterone synthase gene does not significantly influence clinical prognosis of chronic heart failure. PMID: 28625318
13. his study provided candidates for novel drug-like CYP11B2 inhibitors by molecular simulation methods for the hypertension treatment. PMID: 27781210
14. Suggest that there is lack of association between -344T/C polymorphism of CYP11B2 gene and coronary heart disease in Malaysian population. PMID: 25890613
15. Our study is aimed at evaluating the contribution of CYP11B2 promoter methylation to the risk of essential hypertension(EH). Our findings suggest that gene-environment interactions are associated with the pathogenesis and progression of EH PMID: 28078278
16. The present study revealed a strong synergistic effect of CYP11B2 C-344T and IC polymorphisms causing susceptibility to EHT and haplotype H1 (-344T-Conv-Lys173) as the risk-conferring factor for hypertension predisposition. PMID: 27935319
17. Deletions, duplications or chimeric CYP11B2/CYP11B1 gene is associated with 11beta-hydroxylase deficiency. PMID: 26280318
18. CYP11B2 T-344C single nucleotide polymorphism exhibited a strong association with the development of coronary artery disease in Taiwanese women. PMID: 26941570
19. aldosterone synthase (CYP11B2) gene polymorphism may contribute to diabetic nephropathy development, especially in Asian group, with the T allele acting as a risk factor. PMID: 27009287
20. There is lack of association between C-344T polymorphism of CYP11B2 gene and Essential Hypertension in Dongxiang and Han populations from northwest of China , whereas the polymorphism was correlated in female population of Tibetan. PMID: 27149293
21. Polymorphisms of three genes (ACE, AGT and CYP11B2) in the renin-angiotensin-aldosterone system are not associated with blood pressure salt sensitivity. (Meta-analysis) PMID: 26556555
22. Gene polymorphism of CYP11B2 (-344C>T) may be associated with developing preeclampsia during pregnancy. PMID: 26686590
23. This meta-analysis is purposed to reveal the relationship between the -344C/T aldosterone synthase variant and the left ventricular structure and function. PMID: 25208931
24. Strong synergistic effect between ACE and CY11B2 gene polymorphisms in the molecular pathogenesis of Essential Hypertension in Kazakhs in Xinjiang was identified. PMID: 26305278
25. Adrenal tumors in patients with primary aldosteronism can demonstrate clear heterogeneity in cytochrome P450 family 11 subfamily B member 2 (CYP11B2) expression and somatic mutations in driver genes for aldosterone production PMID: 26765578
26. The study explores the relation between ACE D/I and CYP11B2 C-344T polymorphisms and parameters of arterial stiffness in the context of renal sodium handling. PMID: 26222001
27. univariate and multivariable analyses revealed no association between -344C/T of CYP11B2 and plasma glucose in patients with no diabetes, Homeostasis Model Assessment as an Index of Insulin Resistance, or left ventricular mass indexed to height. PMID: 26200036
28. suggested that the -344T>C polymorphism in Studies suggest that the cytochrome P450 11B2 (CYP11B2) gene might be associated with susceptibility to CAD in Caucasians and Asians. PMID: 25966076
29. The present meta-analysis supported the positive association of the CYP11B2 -344C/T variant with ischemic stroke. PMID: 23748625
30. Obesity risk increased with GRK4 A486V and CYP11B2 variants in Korean girls as sodium intake increased. PMID: 25768006
31. Our pooled data suggest a significant association exists between CYP11B2-344T>C polymorphism and atrial fibrillation among hypertension populations--{REVIEW} PMID: 25354523
32. findings characterize the haplotype-dependent regulation of the hCYP11B2 gene where -344T serves as a reporter polymorphism and show that Hap-I leads to increased expression of hCYP11B2, with permissive effects on blood pressure and inflammatory milieu. PMID: 25504670
33. This cataloguing of deleterious SNPs is essential for narrowing down the number of CYP11B2 mutations to be screened in genetic association studies and for a better understanding of the functional and structural aspects of the CYP11B2 protein. PMID: 25102047
34. polymorphism in the CYP11B2 gene was significantly associated with hypertension in the Chinese population PMID: 23204185
35. microRNA (miR)-766 binds to the 735G-allele and not the 735A-allele of the hCyp11B2 gene and may downregulate the expression of human aldosterone synthase gene and reduce blood pressure in human subjects containing -344T allele. PMID: 25351194
36. the CT and TT genotypes of aldosterone synthase C-344T polymorphism, frequency of alcohol consumption and aldosterone levels were significantly high among the total as well as male PMID: 25572238
37. Our results suggest that the down-regulation of ANP gene expression at mRNA and protein levels and up-regulated CYP11B2 protein expression levels may be correlated with the essential hypertension PMID: 25917967
38. CYP11B2 -344C/T polymorphism might be an independent risk factor of IgA nephropathy, focal segmental glomerulosclerosis and all proliferative chronic glomerulonephritis. PMID: 23681285
39. The objective of this study was to assess aldosterone polymorphisms and relationships to plasma aldosterone levels and the development of renal histological lesions in kidney transplant patients. PMID: 23257211
40. CYP11B2 polymorphism is an independent predictor for atrial fibrillation development in hypertrophic cardiomyopathy patients. PMID: 24599807
41. CYP11B2 genotype were associated to type 2 diabetes mellitus. PMID: 24549414
42. GnRH, through heterotopic expression of its receptor, may be a potential regulator of CYP11B2 expression levels in some cases of aldosterone-producing adenoma. PMID: 24472523
43. Plasma aldosterone concentration is significantly associated with -344 C/T CYP11B2 polymorphism and with the treatment with spironolactone in resistant hypertensive subjects. PMID: 24388430
44. The 344 C/T polymorphism of the CYP11B2 gene predicts resolution of hypertension in patients undergoing adrnelactomy for aldosterone-producing adenoma. PMID: 22650983
45. tumor area in aldosterone-producing adenoma specimens was correlated with preoperative plasma aldosterone, urinary aldosterone excretion, and the H score of 11beta-hydroxylase and was inversely correlated with the H score of aldosterone synthase. PMID: 24842915
46. Aldosteronomas are hypomethylated, and CYP11B2 is overexpressed and hypomethylated in these tumors. PMID: 24423307
47. The C-344T aldosterone synthase gene variant is associated with preclinical vascular alterations in essential hypertension. PMID: 23490082
48. The present meta-analysis suggested that CYP11B2 C-344T polymorphism was unlikely contribute to ischemic stroke susceptibility. PMID: 23950878
49. -344C allele may be associated with decreased risk of Idiopathic hyperaldosteronism; there was still no enough evidence to indicate the association of A2718G polymorphism with Primay aldosteronism risk. PMID: 23535359
50. the CYP11B2 -344CC genotype was a significant and independent predictor of AF beyond conventional clinical and echocardiographic predictors of AF and genetic ancestry. It also associated with extreme elevation of serum aldosterone. PMID: 23936266

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HGNC: 2592

OMIM: 103900

KEGG: hsa:1585

STRING: 9606.ENSP00000325822

UniGene: Hs.632054