scholarly journals Role of the Genetic Factors in the Development of Myopia

10.5772/52543 ◽  
2013 ◽  
Author(s):  
Malgorzata Mrugacz
Keyword(s):  
Genetic Factors

Epigenetic factors and molecular markers of the risk of early pregnancy losses

GYNECOLOGY ◽  
2019 ◽  
Vol 21 (3) ◽  
pp. 9-16
Author(s):  
Nataly I Frolova ◽  
Tatiana E Belokrinitskaya
Keyword(s):  
Early Pregnancy ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Pregnancy Complication ◽  
Common Complication ◽  
Epigenetic Factors ◽  
Genetic Determination ◽  
Periconceptional Period ◽  
Combined Impact

Background. Miscarriage is a common complication in early pregnancy. Current studies have shown a higher prevalence of miscarriage, ranging from 10 to 20%. The review is devoted to modern concepts of etiology and pathogenesis of early pregnancy losses. Aim. Assess the role of epigenetic factors and molecular-genetic markers in the pathogenesis and prediction of early pregnancy losses Materials and methods. In order to write this review domestic and foreign publications were searched in Russian and international search systems (PubMed, eLibrary, etc.) for the last 10-15 years. Relevant articles from the peer-reviewed literature and clinical practice guidelines were included. Results. Many recent studies have proved the contribution of various epigenetic factors to the pathogenesis of spontaneous miscarriages, and the molecular-genetic determination such kinds of pregnancy complication has been confirmed. Conclusion. The miscarriage in early gestation is driven by combined impact of epigenetic and molecular-genetic factors, as well as the presence of intergenic interactions. It is may lead to deterioration of physiological functions, and maternal pathologenic pathways could be changed as during her periconceptional period as so during the pregnancy.

Role of genetic factors in the development of hypertension in young patients with metabolic syndrome

2020 ◽  
pp. 23-32
Author(s):  
Elena Korneeva ◽  
Mikhail Voevoda ◽  
Sergey Semaev ◽  
Vladimir Maksimov
Keyword(s):  
Metabolic Syndrome ◽  
High Risk ◽  
Arterial Hypertension ◽  
Genetic Factors ◽  
Young Patients ◽  
Integrin Αiibβ3 ◽  
Ace Gene ◽  
The Metabolic Syndrome

Results of the study related to polymorphism of ACE gene (rs1799752)‎, integrin αIIbβ3, and CSK gene (rs1378942) influencing development of arterial hypertension in young patients with metabolic syndrome are presented. Hypertension as a component of the metabolic syndrome was detected in 15.0% of young patients. Prevalence of mutant alleles of the studied genes among the examined patients was quite high, so homozygous DD genotype was found in 21.6%, and mutant D allele of the ACE gene in 47.4%. A high risk of hypertension in patients with MS was detected in carriers of the T allele of the CSK (rs1378942) gene – 54.8%, which was most often observed in a combination of polymorphic ACE and CSK gene loci (p = 0.0053).

scholarly journals Genetic Determinants of Paget’s Disease of Bone

2021 ◽  
Author(s):  
Navnit S. Makaram ◽  
Stuart H. Ralston
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association Studies ◽  
Paget's Disease Of Bone ◽  
Genome Wide ◽  
Family Based

Abstract Purpose of Review To provide an overview of the role of genes and loci that predispose to Paget’s disease of bone and related disorders. Recent Findings Studies over the past ten years have seen major advances in knowledge on the role of genetic factors in Paget’s disease of bone (PDB). Genome wide association studies have identified six loci that predispose to the disease whereas family based studies have identified a further eight genes that cause PDB. This brings the total number of genes and loci implicated in PDB to fourteen. Emerging evidence has shown that a number of these genes also predispose to multisystem proteinopathy syndromes where PDB is accompanied by neurodegeneration and myopathy due to the accumulation of abnormal protein aggregates, emphasising the importance of defects in autophagy in the pathogenesis of PDB. Summary Genetic factors play a key role in the pathogenesis of PDB and the studies in this area have identified several genes previously not suspected to play a role in bone metabolism. Genetic testing coupled to targeted therapeutic intervention is being explored as a way of halting disease progression and improving outcome before irreversible skeletal damage has occurred.

scholarly journals Genetic aspects of susceptibility to multiple myeloma

Blood ◽  
1982 ◽  
Vol 59 (6) ◽  
pp. 1286-1291 ◽  
Author(s):  
H Ludwig ◽  
W Mayr
Keyword(s):  
Multiple Myeloma ◽  
Patient Group ◽  
Genetic Factors ◽  
Blood Groups ◽  
Abo Blood Groups ◽  
Hla Association ◽  
Large Patient

Abstract An up-dated survey of the information pertaining to the role of genetic factors in susceptibility to multiple myeloma is attempted. Our own results include the HLA-A, B, and C types in 68 patients, the G1m and Km allotypes in 86 patients, and the frequencies of ABO blood groups in 126 patients with multiple myeloma. The allotype G1m(x) was significantly (p less than 0.05) more frequent in the patient group. Since the results in the literature on a possible HLA association have been inconsistent, all relevant available data were combined for an assessment of 379 patients versus 5041 controls. In this comparatively large patient group, the previously reported increase of HLA-4c (HLA-B5 + B18 + Bw35) complex could be confirmed and identified as a weak (RR = 1.7) but significant (p less than 0.05) association of susceptibility to multiple myeloma with HLA-B5. Evaluation of G1m allotypes in the combined sample of 258 patients and 4550 controls and Km in 179 and 2457, respectively yielded no significant differences.

scholarly journals Role of the relationship between dyslipidemia and genetic factors in the development of atherosclerosis

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P708-P708
Author(s):  
S. Hata ◽  
M. Nakazato ◽  
T. Sekita ◽  
T. Maeda ◽  
T. Kanda
Keyword(s):  
Genetic Factors ◽  
The Relationship

scholarly journals The Role of Genetic Factors for Hearing Deterioration Across 20 Years: A Twin Study

2015 ◽  
Vol 70 (5) ◽  
pp. 647-653 ◽  
Author(s):  
Renata Bogo ◽  
Ahmed Farah ◽  
Ann-Christin Johnson ◽  
Kjell K. Karlsson ◽  
Nancy L. Pedersen ◽  
...  
Keyword(s):  
Twin Study ◽  
Genetic Factors

Cocaine use, abuse and dependence in a population-based sample of female twins

1998 ◽  
Vol 173 (4) ◽  
pp. 345-350 ◽  
Author(s):  
Kenneth S. Kendler ◽  
Carol A. Prescott
Keyword(s):  
Cocaine Abuse ◽  
Genetic Factors ◽  
Model Fitting ◽  
Population Based ◽  
Cocaine Use ◽  
Past Half Century ◽  
History Of ◽  
Population Based Registry ◽  
Twin Resemblance

BackgroundAlthough cocaine use in women has increased substantially over the past half-century, we understand little about the aetiology in women of cocaine use and abuse, and know almost nothing about the role of genetic factors.MethodWe obtained by telephone interview a history of lifetime cocaine use, abuse and dependence from 1934 individual twins from female–female pairs ascertained through a population-based registry, including both members of 485 monozygotic (MZ) and 335 dizygotic (DZ) pairs.ResultsThe prevalence of lifetime cocaine use, abuse and dependence were 14.0%, 3.3% and 2.3%. Probandwise concordance rates, in MZ and DZ twins, respectively, were: cocaine use 54% and 42%; cocaine abuse 47% and 8% and cocaine dependence 35% and 0%. In MZ and DZ twins, odds ratios were: cocaine use 14.2 and 6.7 and cocaine abuse 40.8 and 2.7. Biometrical model-fitting suggested that twin resemblance for liability to cocaine use was due to both genetic and familial–environmental factors while twin resemblance for cocaine abuse and symptoms of dependence was due solely to genetic factors. Estimated heritabilities were: cocaine use 0.39, cocaine abuse 0.79 and symptoms of dependence 0.65.ConclusionsThe vulnerability to cocaine use and particularly cocaine abuse and dependence in women is substantially influenced by genetic factors.

A Comprehensive Review on the Role of Genetic Factors in the Pathogenesis of Migraine

2021 ◽  
Author(s):  
Kaveh Ebahimzadeh ◽  
Mahdi Gholipour ◽  
Mohammad Samadian ◽  
Mohammad Taheri ◽  
Soudeh Ghafouri-Fard
Keyword(s):  
Genetic Factors ◽  
Comprehensive Review
Sign in / Sign up

Export Citation Format

Share Document