scholarly journals Analysis of population genetic structure from Bucaramanga (Colombia) based on gene polymorphisms associated with regulation of blood pressure

2012 ◽  
pp. 154-161
Author(s):  
Francisco Javier León ◽  
Fernando Rondón González ◽  
Clara Inés Vargas Castellanos ◽  
Myriam Oróstegui ◽  
Leonelo Bautista ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Genetic Structure ◽  
Fragment Length Polymorphism ◽  
Association Studies ◽  
Genetic Structure Of Populations ◽  
Hardy Weinberg Equilibrium ◽  
Endothelial Nitric Oxide ◽  
Intron 4 ◽  
Regulation Of Blood Pressure ◽  
Genetic Equilibrium

Introduction: In spite nearly 40% of the variability in blood pressure can be explained by genetic factors, the identifi­cation of genes associated to essential high blood pressure is difficult in populations where individuals have different genetic precedents; in these circumstances it is necessary to determinate whether the population is sub-structured because this can bias studies associated with this disease. Objectives: To determine the genetic structure of the population in Bucaramanga from genetic polymorphisms asso­ciated with the regulation of blood pressure: 448G>T, 679C>T y 1711C>T from the gene kinase 4 of the dopaminergic receptor linked to the protein G and Glu298Asp, -786T>C and the VNTR of the intron 4 of the gene of endothelial nitric oxide. Methodology: A sample of 552 unrelated individuals was studied through analysis of Restriction fragment length polymorphism. The allelic, haplotypic and genotypic frequencies were calculated, the Hardy-Weinberg equilibrium was determined and a molecular analysis of variance was performed to determine the genetic structure. Results: 38 Haplotypes were identified, with GCCTG4b as the most frequent (21.2%). The most diverse polymorphism was 448G>T with a frequency of 49.9% for heterozygous. The six polymorphisms were found in genetic equilibrium and genetic structure of populations was not evidenced (FST = 0,0038). Conclusion: The population studied does not present a genetic sub-structure and the polymorphisms analyzed were found in genetic equilibrium, this indicates that the population mixes randomly and there are no sub-groups capable of affecting the results of the association studies

Genetic Susceptibility to Primary Intracerebral Haemorrhage

2009 ◽  
Vol 4 (1) ◽  
pp. 44 ◽  
Author(s):  
Efthimios Dardiotis ◽  
Efthimios Dardiotis ◽  
Georgia Xiromerisiou ◽  
Konstantinos Paterakis ◽  
Kostas Fountas ◽  
...  
Keyword(s):  
Risk Factors ◽  
Blood Pressure ◽  
Intracerebral Haemorrhage ◽  
Association Studies ◽  
Cerebral Arteries ◽  
Genetic Association Studies ◽  
Negative Results ◽  
Degenerative Alterations ◽  
Regulation Of Blood Pressure

Primary intracerebral haemorrhage (PICH) originates from the spontaneous rupture of cerebral arteries as a result of chronic degenerative alterations. Although the aetiology of PICH has not been fully elucidated, it may be the result of an interaction between genetic and environmental risk factors. Several genetic association studies have been conducted in patients with PICH with both positive and negative results. Most of them investigated the role of mutations in genes affecting the lipid metabolism, the coagulation processes, the inflammation and the regulation of blood pressure. In this article we briefly discuss the majority of these studies reporting the susceptibility genes that have been implicated in PICH.

Sympathetic nerve activity: role in regulation of blood pressure in the spontaenously hypertensive rat.

1976 ◽  
Vol 38 (6) ◽  
pp. 21-29 ◽  
Author(s):  
W V Judy ◽  
A M Watanabe ◽  
D P Henry ◽  
H R Besch ◽  
W R Murphy ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Sympathetic Nerve ◽  
Sympathetic Nerve Activity ◽  
Nerve Activity ◽  
Hypertensive Rat ◽  
Regulation Of Blood Pressure

Endothelial nitric oxide synthase polymorphism and venous thromboembolism: A meta-analysis of 9 studies involving 3993 subjects

2021 ◽  
pp. 026835552110166
Author(s):  
Guangbin Huang ◽  
Xuejun Deng ◽  
Yanan Xu ◽  
Pan Wang ◽  
Tao Li ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Venous Thromboembolism ◽  
Nitric Oxide Synthase ◽  
Endothelial Nitric Oxide Synthase ◽  
Meta Analysis ◽  
Enos Polymorphism ◽  
The Difference ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Intron 4

Background Endothelial nitric oxide synthase (eNOS) polymorphism may influence the risk of venous thromboembolism (VTE). However, data from published studies with low statistical power are inconclusive. The present meta-analysis aimed to assess the relationship between eNOS polymorphism and the risk of VTE. Method Case-control studies evaluating the association between the eNOS polymorphism and VTE were searched in PubMed, Embase, Web of Science, Google Scholar, Wanfang, Chinese National Knowledge Infrastructure (CNKI), the Chongqing VIP Chinese Science and Technology Periodical Database (VIP), and Chinese Biomedical Literature Database (CBM). Results A total of 1588 cases and 2405 controls from 9 studies were included in the analysis. The results showed that eNOS G894T polymorphism was related to VTE susceptibility and the difference was statistically significant [T vs G: OR = 1.41, 95% CI (1.13, 1.75), P = 0.002; TT + GG vs TG: OR = 0.71, 95% CI (0.60, 0.84), P = 0.000; TT + TG vs GG: OR = 1.45, 95% CI (1.23, 1.70), P = 0.000]. Additionally, eNOS Intron 4 VNTR polymorphism was related to VTE susceptibility and the difference was statistically significant [4b4b vs 4a4a + 4a4b: OR = 2.77, 95% CI (1.01, 7.61), P = 0.048]. Conclusion ENOS G894T and eNOS Intron 4 VNTR polymorphisms were associated with VTE susceptibility, especially in Asian populations. However, multicenter studies with larger samples should be conducted to further clarify this association and verify our findings.

scholarly journals Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Kevin K. Esoh ◽  
Tobias O. Apinjoh ◽  
Steven G. Nyanjom ◽  
Ambroise Wonkam ◽  
Emile R. Chimusa ◽  
...  
Keyword(s):  
Genetic Structure ◽  
Ethnic Groups ◽  
Genetic Association ◽  
Association Studies ◽  
Genetic Association Studies ◽  
Genomic Region ◽  
Sub Saharan Africa ◽  
Genome Wide Association Studies ◽  
Fine Scale ◽  
Sub Saharan

AbstractInferences from genetic association studies rely largely on the definition and description of the underlying populations that highlight their genetic similarities and differences. The clustering of human populations into subgroups (population structure) can significantly confound disease associations. This study investigated the fine-scale genetic structure within Cameroon that may underlie disparities observed with Cameroonian ethnicities in malaria genome-wide association studies in sub-Saharan Africa. Genotype data of 1073 individuals from three regions and three ethnic groups in Cameroon were analyzed using measures of genetic proximity to ascertain fine-scale genetic structure. Model-based clustering revealed distinct ancestral proportions among the Bantu, Semi-Bantu and Foulbe ethnic groups, while haplotype-based coancestry estimation revealed possible longstanding and ongoing sympatric differentiation among individuals of the Foulbe ethnic group, and their Bantu and Semi-Bantu counterparts. A genome scan found strong selection signatures in the HLA gene region, confirming longstanding knowledge of natural selection on this genomic region in African populations following immense disease pressure. Signatures of selection were also observed in the HBB gene cluster, a genomic region known to be under strong balancing selection in sub-Saharan Africa due to its co-evolution with malaria. This study further supports the role of evolution in shaping genomes of Cameroonian populations and reveals fine-scale hierarchical structure among and within Cameroonian ethnicities that may impact genetic association studies in the country.

Genetic Relationships of Cory's Shearwater: Parentage, Mating Assortment, and Geographic Differentiation Revealed by DNA Fingerprinting

The Auk ◽  
2000 ◽  
Vol 117 (3) ◽  
pp. 651-662 ◽  
Author(s):  
Corinne Rabouam ◽  
Vincent Bretagnolle ◽  
Yves Bigot ◽  
Georges Periquet
Keyword(s):  
Genetic Variation ◽  
Genetic Structure ◽  
Dna Fingerprinting ◽  
Genetic Relatedness ◽  
Isolation By Distance ◽  
Genetic Relationships ◽  
Cory’S Shearwater ◽  
Genetic Structure Of Populations ◽  
The Social ◽  
Calonectris Diomedea

Abstract We used DNA fingerprinting to assess genetic structure of populations in Cory's Shearwater (Calonectris diomedea). We analyzed mates and parent-offspring relationships, as well as the amount and distribution of genetic variation within and among populations, from the level of subcolony to subspecies. We found no evidence of extrapair fertilization, confirming that the genetic breeding system matches the social system that has been observed in the species. Mates were closely related, and the level of genetic relatedness within populations was within the range usually found in inbred populations. In contrast to previous studies based on allozymes and mtDNA polymorphism, DNA fingerprinting using microsatellites revealed consistent levels of genetic differentiation among populations. However, analyzing the two subspecies separately revealed that the pattern of genetic variation among populations did not support the model of isolation by distance. Natal dispersal, as well as historic and/or demographic events, probably contributed to shape the genetic structure of populations in the species.

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