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1.
Rev Assoc Med Bras (1992) ; 70(6): e20231020, 2024.
Article de Anglais | MEDLINE | ID: mdl-39045947

RÉSUMÉ

OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship.


Sujet(s)
Indice de masse corporelle , Fréquence d'allèle , Prédisposition génétique à une maladie , Génotype , Obésité morbide , Polymorphisme de restriction , Récepteur calcitriol , Humains , Récepteur calcitriol/génétique , Obésité morbide/génétique , Mâle , Femelle , Adulte , Études cas-témoins , Adulte d'âge moyen , Fréquence d'allèle/génétique , Polymorphisme de restriction/génétique , Prédisposition génétique à une maladie/génétique , Réaction de polymérisation en chaîne , Facteurs de risque , Allèles
2.
Rev. Assoc. Med. Bras. (1992, Impr.) ; Rev. Assoc. Med. Bras. (1992, Impr.);70(6): e20231020, 2024. tab
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1565028

RÉSUMÉ

SUMMARY OBJECTIVE: The aim of this study was to evaluate the vitamin D receptor (VDR) BsmI variant in morbidly obese patients compared with healthy normal controls. METHODS: The study included 103 patients with morbid obesity and 120 healthy individuals serving as normal controls. The DNA samples obtained from blood were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The gender, age, smoking status, triglycerides, total cholesterol, insulin, mean body mass index, and frequency of allele and genotype of the BsmI variant in the VDR gene in morbidly obese patients were evaluated. RESULTS: The body mass index of the patients was 47.14 ± 7.19. The VDR B/B, B/b, and b/b genotype frequencies were 27.2% versus 28.3%; 54.4% versus 50%; and 18.4% versus 21.7% in the morbidly obese patients and the control group, respectively. There was no statistically significant difference between patients and control subjects in the genotype and allele distribution of the VDR BsmI variant (p>0.05). Both patients and control genotype frequencies are consistent with Hardy-Weinberg equilibrium. CONCLUSION: The BsmI variant in the VDR gene may not seem to predispose to morbid obesity in our study population. Further studies with a larger number of subjects are needed to make a more precise evaluation of this relationship.

3.
Rev Assoc Med Bras (1992) ; 69(12): e20230575, 2023.
Article de Anglais | MEDLINE | ID: mdl-38055452

RÉSUMÉ

OBJECTIVE: Regular exercise benefits health by increasing the body's antioxidant defenses. However, excessive exercise can produce excessive reactive oxygen species, which can lead to oxidative stress. Superoxide dismutase is the primary enzyme involved in the elimination of reactive oxygen species. This study aimed to determine the relationship between the SOD1 gene insertion/deletion variant and elite athletes. METHODS: A total of 305 subjects, including 165 elite athletes from different branches and 140 sedentary individuals, participated in this study. The SOD1 insertion/deletion variant was genotyped using polymerase chain reaction. The results were evaluated statistically. RESULTS: There was no statistical significance between the athletes and control groups in terms of SOD1 insertion/deletion genotype distribution and allele frequency. Then, we evaluated the groups as females and males. There were no female athletes carrying the D/D genotype. The SOD1 I/I genotype and the I allele were more prevalent in female athletes than in the control group. There was a significant difference in terms of SOD1 I/I: I/D+D/D in females (p=0.028). SOD1 genotype and allele distribution did not differ between male athletes and male controls. CONCLUSION: As far as we know, this is the first study to evaluate the SOD1 insertion/deletion variant in athletes in Turkey. Our results showed that the SOD1 I allele was more common in female athletes, but not in male athletes.


Sujet(s)
Athlètes , Superoxide dismutase-1 , Femelle , Humains , Mâle , Fréquence d'allèle , Génotype , Mutagenèse par insertion , Espèces réactives de l'oxygène , Superoxide dismutase-1/génétique
4.
Rev Assoc Med Bras (1992) ; 69(7): e20221713, 2023.
Article de Anglais | MEDLINE | ID: mdl-37466590

RÉSUMÉ

OBJECTIVE: Coronavirus disease 2019 emerges as a disease caused by severe acute respiratory syndrome coronavirus 2. It is a systemic disease associated with vascular inflammation and endothelial damage. In this study, we aimed to investigate whether vascular endothelial growth factor gene insertion/deletion polymorphism is associated with coronavirus disease 2019 in the Turkish population. METHODS: The study included 179 participants (79 patients with coronavirus disease 2019 and 100 controls). DNA isolation was made from peripheral blood, and then the polymerase chain reaction analysis was performed. RESULTS: When we analyze vascular endothelial growth factor gene insertion/deletion polymorphism in the study group, we found that the DD genotype and D allele were found to be statistically significantly different when compared to coronavirus disease 2019 patients with high vitamin D value (p=0.005 for DD genotype and p=0.006 for D allele) in the control group. In this high-level control group, when we analyze II+ID genotype versus DD, a statistically significant difference was also detected (p=0.007). CONCLUSION: As a result of the study, we found that DD genotype and D allele were associated with vitamin D level in Turkish patients with coronavirus disease 2019.


Sujet(s)
COVID-19 , Facteur de croissance endothéliale vasculaire de type A , Humains , COVID-19/génétique , Génotype , Mutagenèse par insertion , Peptidyl-Dipeptidase A/génétique , Polymorphisme génétique , Facteur de croissance endothéliale vasculaire de type A/génétique
5.
Rev. Assoc. Med. Bras. (1992, Impr.) ; Rev. Assoc. Med. Bras. (1992, Impr.);69(7): e20221713, 2023. tab, graf
Article de Anglais | LILACS-Express | LILACS | ID: biblio-1449094

RÉSUMÉ

SUMMARY OBJECTIVE: Coronavirus disease 2019 emerges as a disease caused by severe acute respiratory syndrome coronavirus 2. It is a systemic disease associated with vascular inflammation and endothelial damage. In this study, we aimed to investigate whether vascular endothelial growth factor gene insertion/deletion polymorphism is associated with coronavirus disease 2019 in the Turkish population. METHODS: The study included 179 participants (79 patients with coronavirus disease 2019 and 100 controls). DNA isolation was made from peripheral blood, and then the polymerase chain reaction analysis was performed. RESULTS: When we analyze vascular endothelial growth factor gene insertion/deletion polymorphism in the study group, we found that the DD genotype and D allele were found to be statistically significantly different when compared to coronavirus disease 2019 patients with high vitamin D value (p=0.005 for DD genotype and p=0.006 for D allele) in the control group. In this high-level control group, when we analyze II+ID genotype versus DD, a statistically significant difference was also detected (p=0.007). CONCLUSION: As a result of the study, we found that DD genotype and D allele were associated with vitamin D level in Turkish patients with coronavirus disease 2019.

6.
Arch. Clin. Psychiatry (Impr.) ; Arch. Clin. Psychiatry (Impr.);43(2): 27-30, Mar.-Apr. 2016. tab, ilus
Article de Anglais | LILACS | ID: lil-782109

RÉSUMÉ

Abstract Background Major depressive disorder (MDD) is a complex disease and a significant health problem that is prevalent across the world. Angiotensin-converting enzyme (ACE) has an important role in renin-angiotensin system (RAS) and converts inactive angiotensin I to a potent vasopressor and aldosterone-stimulating peptide angiotensin II. Levels of ACE in plasma vary according to the insertion/deletion (I/D) polymorphism of ACE gene. Objective The aim of the current study was to examine the influence ACE gene I/D variations on the risk of MDD. Methods In the present case-control study, we analyzed ACE I/D polymorphism in 346 MDD patients and 210 healthy subjects using polymerase chain reaction technique. Results Comparing the two groups, no significant difference was observed with regard to either genotype distributions or allele frequencies of the I/D polymorphism of ACE gene. Discussion Our findings suggest that the ACE I/D polymorphism is not associated with MDD in Turkish case-control study. Further studies are still needed.


Sujet(s)
Humains , Mâle , Femelle , Polymorphisme génétique , Population , Dépression , Turquie
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