scholarly journals THE RELATIONSHIP BETWEEN GENETIC VARIANTS OF B-LACTOGLOBULIN AND K-CASEIN AND SELECTED PARAMETERS OF THE SUITABILITY OF MILK FOR CHEESE PRODUCTION

2016 ◽  
Vol 15 (3) ◽  
pp. 53-66
Author(s):  
Anna Wolanciuk ◽  
◽  
Joanna Barłowska ◽  
Zygmunt Litwińczuk ◽  
Wioletta Sawicka-Zugaj ◽  
...  
Keyword(s):  
Genetic Variants ◽  
The Relationship ◽  
Cheese Production

Migraine: Genetic Variants and Clinical Phenotypes

2019 ◽  
Vol 26 (34) ◽  
pp. 6207-6221 ◽  
Author(s):  
Innocenzo Rainero ◽  
Alessandro Vacca ◽  
Flora Govone ◽  
Annalisa Gai ◽  
Lorenzo Pinessi ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Association Studies ◽  
Mthfr Gene ◽  
Genome Wide Association Studies ◽  
Clinical Phenotypes ◽  
Network Analyses ◽  
Genome Wide ◽  
Genomic Studies ◽  
The Common ◽  
The Relationship

Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases, migraine is transmitted as a monogenic disorder, and the disease phenotype cosegregates with mutations in different genes like CACNA1A, ATP1A2, SCN1A, KCNK18, and NOTCH3. In the common forms of migraine, candidate genes as well as genome-wide association studies have shown that a large number of genetic variants may increase the risk of developing migraine. At present, few studies investigated the genotype-phenotype correlation in patients with migraine. The purpose of this review was to discuss recent studies investigating the relationship between different genetic variants and the clinical characteristics of migraine. Analysis of genotype-phenotype correlations in migraineurs is complicated by several confounding factors and, to date, only polymorphisms of the MTHFR gene have been shown to have an effect on migraine phenotype. Additional genomic studies and network analyses are needed to clarify the complex pathways underlying migraine and its clinical phenotypes.

THE RELATIONSHIP BETWEEN OBSTRUCTIVE SLEEP APNOEA AND TASK-1 GENETIC VARIANTS

2018 ◽  
Vol 36 (Supplement 1) ◽  
pp. e205
Author(s):  
N. Li ◽  
T. Shi ◽  
X. Yao ◽  
Y. Wang ◽  
M. Heizhati ◽  
...  
Keyword(s):  
Obstructive Sleep Apnoea ◽  
Genetic Variants ◽  
Sleep Apnoea ◽  
Obstructive Sleep ◽  
The Relationship ◽  
And Task

Studying how genetic variants affect mechanism in biological systems

2018 ◽  
Vol 62 (4) ◽  
pp. 575-582
Author(s):  
Francesco Raimondi ◽  
Robert B. Russell
Keyword(s):  
Genetic Variation ◽  
Molecular Mechanism ◽  
Genetic Variants ◽  
Biological Function ◽  
Biological Systems ◽  
Protein Structures ◽  
Clinical Applications ◽  
Biological Pathways ◽  
The Relationship

Genetic variants are currently a major component of system-wide investigations into biological function or disease. Approaches to select variants (often out of thousands of candidates) that are responsible for a particular phenomenon have many clinical applications and can help illuminate differences between individuals. Selecting meaningful variants is greatly aided by integration with information about molecular mechanism, whether known from protein structures or interactions or biological pathways. In this review we discuss the nature of genetic variants, and recent studies highlighting what is currently known about the relationship between genetic variation, biomolecular function, and disease.

scholarly journals Genetic Diversity and Evolution of the Biological Features of the Pandemic SARS-CoV-2

Acta Naturae ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 77-89
Author(s):  
Aleksandra A. Nikonova ◽  
Eugene B. Faizuloev ◽  
Anastasia V. Gracheva ◽  
Igor Yu. Isakov ◽  
Vitaly V. Zverev
Keyword(s):  
Genetic Diversity ◽  
Genetic Variants ◽  
Large Scale ◽  
Biological Properties ◽  
Viral Genomes ◽  
Biological Features ◽  
Health Measures ◽  
Common Genetic Variants ◽  
Coronavirus Infection ◽  
The Relationship

The new coronavirus infection (COVID-19) represents a challenge for global health. Since the outbreak began, the number of confirmed cases has exceeded 117 million, with more than 2.6 million deaths worldwide. With public health measures aimed at containing the spread of the disease, several countries have faced a crisis in the availability of intensive care units. Currently, a large-scale effort is underway to identify the nucleotide sequences of the SARS-CoV-2 coronavirus that is an etiological agent of COVID-19. Global sequencing of thousands of viral genomes has revealed many common genetic variants, which enables the monitoring of the evolution of SARS-CoV-2 and the tracking of its spread over time. Understanding the current evolution of SARS-CoV-2 is necessary not only for a retrospective analysis of the new coronavirus infection spread, but also for the development of approaches to the therapy and prophylaxis of COVID-19. In this review, we have focused on the general characteristics of SARS-CoV-2 and COVID-19. Also, we have analyzed available publications on the genetic diversity of the virus and the relationship between the diversity and the biological properties of SARS-CoV-2, such as virulence and contagiousness.

Abstract 18134: Phenome-wide Study of Electronic Medical Record Data Reveals Novel Association of Natriuretic Peptide A Genetic Variant With Rheumatoid Arthritis

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Naveen Pereira ◽  
Gregory Jenkins ◽  
Ifthikar Kullo ◽  
Suzette Bielinski ◽  
John Burnett ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Genetic Variation ◽  
Medical Record ◽  
Electronic Medical Record ◽  
Natriuretic Peptide ◽  
Genetic Variants ◽  
Association Studies ◽  
Disease Phenotypes ◽  
Novel Association ◽  
The Relationship

Introduction: Phenome-wide association studies (PheWAS) using electronic medical record (EMR)-linked biobanks have been used not only to identify and replicate known associations of genetic variants with disease phenotypes but have also resulted in the discovery of potentially novel genotype-phenotype relationships. The natriuretic peptide (NP) system plays an important role in a broad range of disease processes including cardiovascular and inflammatory diseases. We hypothesized that performing a PheWAS using previously known functional genetic variants of the NP system may result in novel disease associations that could provide mechanistic insights in an unbiased manner. Methods: We scanned for associations between 9 single-nucleotide polymorphisms (SNPs) in the NP system and 27 EMR-derived chronic disease phenotypes in 3,025 individuals participating in a case-control study of peripheral arterial disease. The EMR phenotypes were identified using two or more ICD-9-CM diagnosis codes based on the AHRQ Clinical Classifications Software (CCS). The relationship of SNPs and phenotypes were modeled using logistic regression adjusting for gender. Results: We identified rs5065, a SNP located in the stop codon of exon 3 of the NPPA gene, to be the strongest associated SNP with rheumatoid arthritis (RA) (OR=0.78, p=0.0008, q-value=0.11). The SNP leads to the extension of atrial natriuretic peptide (ANP) by 2 additional arginines at the C terminus. Cardiovascular disease is known to be the leading cause of death in patients with RA and ANP plays an important immunomodulatory role by inhibiting inducible nitric oxide synthase, reducing TNF-α production and attenuating prostaglandin E2 production in macrophages. Circulating NPs have been used to screen for occult cardiac disease and are associated with mortality in RA. This study demonstrates for the first time the importance of the relationship between genetic variation in the NP system and RA. Conclusions: PheWAS was successfully used as a tool to identify a novel association of functional genetic variation in the NPPA gene with RA. The observation is hypothesis generating and further replication studies are required to determine the role of rs5065 in cardiovascular outcomes of RA.

The relationship between vitamin D receptor (VDR) rs2228570 and rs7975232 genetic variants and the risk of recurrent pregnancy loss

Meta Gene ◽  
2021 ◽  
Vol 27 ◽  
pp. 100833
Author(s):  
Zohreh Salari ◽  
Nasrollah Saleh-Gohari ◽  
Monire Rezapour ◽  
Ahamad Khosravi ◽  
Hadi Tavakkoli ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Genetic Variants ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
The Relationship

scholarly journals The Association of 5-HTTLPR XLL Genotype with Higher Cortisol Levels in African Americans

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Carmen L. Contreras-Sesvold ◽  
Preetha Abraham ◽  
Joseph M. Devaney ◽  
Brennan T. Harmon ◽  
Patricia A. Deuster
Keyword(s):  
African American ◽  
African Americans ◽  
Serotonin Transporter ◽  
Hpa Axis ◽  
Genetic Variants ◽  
Promoter Region ◽  
Dehydroepiandrosterone Sulfate ◽  
Functional Polymorphism ◽  
Hpa Axis Dysregulation ◽  
The Relationship

Genetic variants of the human serotonin transporter (SERT) may contribute to HPA axis dysregulation. SERT has two promoter region polymorphisms (5-HTTLPR: VNTR and SNP: rs25531), which may alter levels of SERT protein and its function. Combining these polymorphisms creates a functional polymorphism (FN) which may modulate mRNA expression. This study examines the relationship between these genetic variants and morning and evening salivary samples of both cortisol and dehydroepiandrosterone sulfate (DHEAS) concentrations in 269 African American (AA) adults. Resultant allele frequencies for the VNTR, SNP, and FN genotypes were 70% L (2% XLL), 84% A, and 54% LA (2% XLLA), respectively. The XLL genotype was associated with significantly higher concentrations of cortisol (~3X) and DHEAS (~2X) for both VNTR and FN polymorphisms. No significant differences were found for SNP genotypes. Conclusions were that persons with VNTR and FN XLL polymorphisms had significantly higher cortisol and DHEAS concentrations than other genotypes. AAs also appear to have a higher frequency of the rare XL allele than Caucasians. Whether the XLL genotype predisposes AAs to greater health challenges will require further research to determine the implications of these findings.

scholarly journals The Relationship between Obstructive Sleep Apnea Syndrome and Apolipoprotein E Genetic Variants

Respiration ◽  
2015 ◽  
Vol 89 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Ebru Uyrum ◽  
Oner Balbay ◽  
Ali Nihat Annakkaya ◽  
Ege Gulec Balbay ◽  
Fatma Silan ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Apolipoprotein E ◽  
Obstructive Sleep Apnea Syndrome ◽  
Genetic Variants ◽  
Sleep Apnea Syndrome ◽  
Obstructive Sleep ◽  
Apnea Syndrome ◽  
The Relationship
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