Varaico: Literature-Extracted Genetic Variants

Gene:CYP11B2
Variant:p.K173R
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CYP11B2

NM_000498.3:p.K173R

Associated Papers

Association of combined -344T/C and K173R polymorphisms in aldosterone synthase gene with type 2 diabetes mellitus in the Moroccan population.

Nouhi Y et al.

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.

Peirone S et al.

Frontiers in Oncology, 2024

39421445 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Genetic polymorphism of the CYP11B2 gene in an Iraqi patient with essential hypertension.

Mahdy IM et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2024

Association between Aldosterone Synthase (CYP11B2) Gene Polymorphism and Hypertension in Pashtun Ethnic Population of Khyber Pakhtunkwha, Pakistan.

Shah WA et al.

Genes, 2023

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Studies.

Naito T et al.

Circulation, 2023

36802911 (PubMed )
Supplement: cir-147-1097-s001.pdf

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Effects of methionine synthase and methionine synthase reductase polymorphisms on hypertension susceptibility.

Kim YR et al.

Genes & Genomics, 2020

Association of aldosterone synthase CYP11B2 (-344C/T) gene polymorphism with essential hypertension and left ventricular hypertrophy in the Egyptian population.

Abdel Ghafar MT

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2019

A novel haplotype of low-frequency variants in the aldosterone synthase gene among northern Han Chinese with essential hypertension.

Zhang H et al.

Medicine, 2017

The impact of the clinical CYP11B2 mutation V386A strongly depends on the enzyme's genetic background.

Neunzig J et al.

Endocrine Journal, 2017

The impacts of the interaction of genetic variation, CYP11β2 and NEDD4L, with sodium intake on pediatric obesity with gender difference: a 3-year panel study.

Lee M et al.

International Journal of Obesity (2005), 2017

Understanding primary aldosteronism: impact of next generation sequencing and expression profiling.

Monticone S et al.

Molecular and Cellular Endocrinology, 2015

Association of CYP11B2 polymorphisms with metabolic syndrome patients.

Kim YR et al.

Biomedical Reports, 2014

[Functional analysis of +11G > A single nucleotide polymorphisms in intron 3 of human urate transporter 1 gene].

Lu J et al.

Zhonghua Nei Ke Za Zhi, 2014

Computational analysis of functional single nucleotide polymorphisms associated with the CYP11B2 gene.

Jia M et al.

Plos One, 2014

Aldosterone synthase gene (CYP11B2) -344C/T polymorphism contributes to the risk of recurrent cerebral ischemia.

Ji P et al.

Genetic Testing and Molecular Biomarkers, 2013

The role of the renin-angiotensin-aldosterone system in preeclampsia: genetic polymorphisms and microRNA.

Yang J et al.

Journal of Molecular Endocrinology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Association between polymorphisms in the renin-angiotensin-aldosterone system genes and essential hypertension in the Han Chinese population.

Ji L et al.

Plos One, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s011.xlsx › all_drug_with_evidence.csv

Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Preissner SC et al.

Plos One, 2013

24340040 (PubMed )
Supplement: pone.0082562.s002.xlsx › CYP_SNP

Homozygosity for a mutation in the CYP11B2 gene in an infant with congenital corticosterone methyl oxidase deficiency type II.

Jessen CL et al.

Acta Paediatrica (oslo, Norway : 1992), 2012

Haplotype-based case-control study of the human CYP11B2 gene and essential hypertension in Yi and Hani minorities of China.

Chen B et al.

Biochemical Genetics, 2011

Association of the human CYP11B2 gene and essential hypertension in southwest Han Chinese population: a haplotype-based case-control study.

Chen B et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 2011

Genome-wide association study of coronary artery disease.

Ogawa N et al.

International Journal of Hypertension, 2010

Association of the -344C/T aldosterone synthase (CYP11B2) gene variant with hypertension and stroke.

Munshi A et al.

Journal of the Neurological Sciences, 2010

Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism.

Zhang GX et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2010

CYP11B2 gene haplotypes independently and in concurrence with aldosterone and aldosterone to renin ratio increase the risk of hypertension.

Nejatizadeh A et al.

Clinical Biochemistry, 2010

Haplotype-based association of the renin-angiotensin-aldosterone system genes polymorphisms with essential hypertension among Han Chinese: the Fangshan study.

Niu W et al.

Journal of Hypertension, 2009

Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function.

Holloway CD et al.

Clinical Endocrinology, 2009

A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency.

Løvås K et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Analysis of renin-angiotensin aldosterone system gene polymorphisms in Malaysian essential hypertensive and type 2 diabetic subjects.

Ramachandran V et al.

Cardiovascular Diabetology, 2009

Association of the -344T/C aldosterone synthase gene variant with essential hypertension.

Hlubocká Z et al.

Physiological Research, 2009

Genomics of complex disorders I.

Unknown Author

Genomic Medicine, 2008

The renin-angiotensin-aldosterone system in cerebral small vessel disease.

Brenner D et al.

Journal of Neurology, 2008

Synergistic effect of the genetic polymorphisms of the renin-angiotensin-aldosterone system on high-altitude pulmonary edema: a study from Qinghai-Tibet altitude.

Qi Y et al.

European Journal of Epidemiology, 2008

Influence of CYP11B2 gene polymorphism on the prevalence of hypertension and the blood pressure in Japanese men: interaction with dietary salt intake.

Song Y et al.

Journal of Nutrigenetics and Nutrigenomics, 2008

[Relationship between aldosterone synthase gene (CYP11B2) polymorphisms and essential hypertension in a northern Chinese Han population].

Niu WQ et al.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2007

Genetics of salt-sensitive hypertension.

Strazzullo P et al.

Current Hypertension Reports, 2007

-344C/T Variant in the promoter of the aldosterone synthase gene (CYP11B2) is associated with metabolic syndrome in men.

Russo P et al.

American Journal of Hypertension, 2007

Predominance of interaction among wild-type alleles of CYP11B2 in Himalayan natives associates with high-altitude adaptation.

Rajput C et al.

Biochemical and Biophysical Research Communications, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."