The Relationship of Single Nucleotide Polymorphisms in the TRPV1 Gene with Lipid Profile, Glucose, and Blood Pressure in Mexican Population

2020 ◽  
Vol 24 (7) ◽  
pp. 420-424
Author(s):  
Anahí González-Mercado ◽  
María Teresa Magaña-Torres ◽  
Josefina Yoaly Sánchez-López ◽  
Mónica Ríos-Silva ◽  
Bertha Ibarra-Cortés ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Single Nucleotide Polymorphisms ◽  
Lipid Profile ◽  
Mexican Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship

scholarly journals In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Brenda Udosen ◽  
Opeyemi Soremekun ◽  
Chinwe Ekenna ◽  
Olaposi Idowu Omotuyi ◽  
Tinashe Chikowore ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Single Nucleotide Polymorphisms ◽  
Critical Role ◽  
Point Mutations ◽  
In Silico Analysis ◽  
Nucleotide Polymorphisms ◽  
Converting Enzyme ◽  
Single Nucleotide ◽  
Function Relationship ◽  
Relationship Of

Abstract Objective The Angiotensin 1 converting enzyme (ACE1) gene plays a critical role in regulating blood pressure and thus, it has become a major therapeutic target of antihypertensives. Single nucleotide polymorphisms (SNPs) occurring within a gene most especially at the functional segment of the genes alter the structure–function relationship of that gene. Results Our study revealed that five nsSNPs of the ACE1 gene were found to be potentially deleterious and damaging and they include rs2229839, rs14507892, rs12709442, and rs4977 at point mutations P351R, R953Q, I1018T, F1051V, and T1187M. The protein stability predictive tools revealed that all the nsSNPs decreased stability of the protein and the Consurf server which estimates the evolutionary conservation profile of a protein showed that three mutants were in the highly conserved region. In conclusion, this study predicted potential druggable deleterious mutants that can be further explored to understand the pathological basis of cardiovascular disease.

THE RELATIONSHIP OF TWO XANTHINE OXIDASE SINGLE NUCLEOTIDE POLYMORPHISMS TO HYPERURICEMIA, GOUT, AND DOSE OF XANTHINE OXIDASE INHIBITOR

2013 ◽  
Vol 16 (01) ◽  
pp. 1350004 ◽  
Author(s):  
Matthew B. Carroll ◽  
Mauricio DeCastro-Pretelt ◽  
Nicole Hust ◽  
Freddie Smith ◽  
Tigist Belema ◽  
...  
Keyword(s):  
Uric Acid ◽  
Single Nucleotide Polymorphisms ◽  
Xanthine Oxidase ◽  
Serum Uric Acid ◽  
Treatment Goal ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Relationship Of ◽  
The Relationship

Background: There is evidence linking xanthine oxidase (XO) single nucleotide polymorphisms (SNPs) to multiple medical conditions. The relationship of XO SNPs to hyperuricemia/gout is limited. An in vitro study of serum from healthy adults found two XO SNPs at 2107A > G and 3662A > G associated with a two-fold higher activity of the enzyme. Materials and Methods: The main outcomes of this study were to determine if the presence of either 2107A > G or 3662A > G XO SNP led to the occurrence of hyperuricemia, gout, or necessitated a higher dose of XO inhibitor (XOI) to achieve a treatment goal of less than 6 mg/dL. A total of 72 patients were enrolled in the hyperuricemia/gout group; 41 in the control group. XO SNPs were amplified and sequenced. Patient interviews and chart reviews gathered demographic data, use of XOI, comorbidities, and serum uric acid levels. Results: The 2107A > G SNP was detected in six patients with hyperuricemia/gout and two patients in the control group. There was no association between either XO SNP with the occurrence of hyperuricemia/gout (p = 0.709). A higher dose of allopurinol was needed to achieve a treatment serum uric acid goal of less than 6 mg/dL (p = 0.049). The 3662A > G SNP was not identified in any patients in the either group of the study. Conclusion: While the presence of 2107A > G SNP had no relationship to hyperuricemia or gout in our cohort it did affect the dose of allopurinol needed to achieve a treatment goal of less than 6 mg/dL. The 3662A > G SNP was not identified in our sample.

scholarly journals IL-1R2 Polymorphisms and its Interaction Associates With Osteoporosis Susceptibility in Chinese Han Population

2020 ◽  
Author(s):  
Kai Rong ◽  
Zhiquan Liang ◽  
Wenyuan Xiang ◽  
Zhan Wang ◽  
Fengli Wen ◽  
...  
Keyword(s):  
Negative Regulator ◽  
Chinese Han Population ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Testing Accuracy ◽  
Relationship Of ◽  
The Relationship ◽  
Osteoporosis Risk

Abstract Background: IL-1R2, serves as a negative regulator of IL-1 signaling, is involved in the pathogenesis of osteoporosis. This study aimed to determine the correlation between IL-1R2 polymorphism and osteoporosis susceptibility among the Chinese Han population.Methods: We recruited 594 osteoporosis patients and 599 healthy controls. Six single nucleotide polymorphisms (SNPs) in IL-1R2 were selected for genotyping using Agena MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) was calculated through logistic regression analysis with adjustment for age and sex. Linkage disequilibrium analysis was plotted by Haploview v4.2. Multifactor dimension reduction (MDR) was performed to estimate the SNP-SNP interaction of IL-1R2 variants.Results: Our result revealed that rs11674595 (OR = 1.86, p = 0.020), rs2072472 (OR = 1.26, p = 0.019) and rs4851527 (OR = 0.78, p = 0.007) were related to the risk of osteoporosis. Moreover, the contribution of IL-1R2 polymorphisms to osteoporosis risk presented age, sex and BMI difference. We found the relationship of Trs11674595Ars4851527 (OR = 0.80, p = 0.015), Crs11674595Grs4851527 (OR = 1.22, p = 0.043) and Ars3218977Grs2072472 (OR = 1.25, p = 0.022) haplotypes to osteoporosis occurrence, and a potential accumulated effect of IL-1R2 SNPs (testing accuracy = 0.5783 and CVC = 10/10) on osteoporosis susceptibility.Conclusion: IL-1R2 polymorphisms (rs11674595, rs4851527, rs2072472 and rs3218977) might contribute to osteoporosis risk among the Chinese Han population. Our finding may increase our understanding of the effects of IL-1R2 polymorphisms on the predisposition of osteoporosis.

In search for polymorphic DNA markers to increase resistance and production level of hens

2020 ◽  
Vol 1 (12) ◽  
pp. 98-104
Author(s):  
I. I. Kochish ◽  
◽  
О. V. Myasnikova ◽  
V. V. Martynov ◽  
V. I. Smolensky ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Dopamine Receptor ◽  
Dna Markers ◽  
Production Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Productive Traits ◽  
Pure Lines ◽  
The Relationship

In the article, the authors assess the prospect of using genetic polymorphisms to predict resistance to diseases and a possible enlarge in chicken production level. Using the PCR-RFLP method, we analyzed the SNP frequencies in the genes of myostatin (MSTN, or GDF-8), proopiomelanocortin (POMC), and dopamine receptor D2 (DRD2) in chickens of the pure lines of the Smena-8 broiler hybreed – B6, B7m / o (slow-feathering), B7b / o (fast-fledging) FSBI "Breeding and Genetic Center “Smena”. The relationship between the studied single nucleotide polymorphisms and the productive traits of chickens was determined. The assessment of the possibilities of using polymorphisms to increase the resistance and productivity of linear birds.

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