Results: 232

Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Braz. j. med. biol. res; 54 (9), 2021
Pediatric epilepsy comprises chronic neurological disorders characterized by recurrent seizures. Sodium valproate is one of the common antiseizure medications used for treatment. Glucuronide conjugation is the major metabolic pathway of sodium valproate, carried out by the enzyme uridine 5′-diphosp...

Effects of FTO and PPARγ variants on intrauterine growth restriction in a Brazilian birth cohort

Braz. j. med. biol. res; 54 (1), 2021
Intrauterine growth restriction (IUGR) is related to a higher risk of neonatal mortality, minor cognitive deficit, metabolic syndrome, and cardiovascular disease in adulthood. In previous studies, genetic variants in the FTO (fat mass and obesity-associated) and PPARγ (peroxisome proliferator-activa...

Performance of mutation pathogenicity prediction tools on missense variants associated with 46, XY differences of sex development

Clinics; 76 (), 2021
OBJECTIVES: Single nucleotide variants (SNVs) are the most common type of genetic variation among humans. High-throughput sequencing methods have recently characterized millions of SNVs in several thousand individuals from various populations, most of which are benign polymorphisms. Identifying rare dise...

Prognostic significance of the mad1l1 1673 g:a polymorphism in ovarian adenocarcinomas

Rev. invest. clín; 72 (6), 2020
Abstract Background: Ovarian cancer is the most lethal gynecologic cancer. Although most patients respond adequately to the first-line therapy, up to 85% experience a recurrence of disease, which carries a poor prognosis. Mitotic arrest deficiency 1 is a protein that helps in the assembly of the mitotic...

SNP-SNP interactions in the BDNF, COMT, CBR1 and CCK genes, associated with post-traumatic stress disorder in urban residents of Itagüí, Colombia

Rev. Fac. Med. (Bogotá); 68 (4), 2020
Abstract Introduction: Single nucleotide polymorphisms (SNPs) in the BDNF, COMT, CBR1 and CCK genes have been associated with the process of fear extinction in humans. Since fear extinction plays a key role in recovering from psychological trauma, there is a possibility that these genes modulate the ris...

Association between the FTO gene polymorphism and obesity in Brazilian adolescents from the Northeast region

J. pediatr. (Rio J.); 96 (5), 2020
Abstract Objective: To investigate the association between the FTO gene polymorphism with obesity in Brazilian adolescents from the Northeast region. Method: This was a case-control study with adolescents aged 18 to 19 years. The case group consisted of 378 obese individuals and the control group of 37...

Genotyping single-nucleotide polymorphism CYP2C19*2, pharmacodynamic evaluation of high on-clopidogrel treatment platelet reactivity and the cardiologist

Arch. cardiol. Méx; 90 (4), 2020

The polymorphic inheritance of DIO2 rs225014 may predict body weight variation after Graves' disease treatment

ABSTRACT Objective: We aimed to investigate the role of DIO2 polymorphisms rs225014 and rs12885300 in Graves' disease patients, mainly for controlling body weight following treatment. Subjects and methods: We genotyped 280 GD patients by the time of diagnosis and 297 healthy control individuals using a...

The relationship between serum concentration of interleukin-35 and foxp3 polymorphism in patients undergoing coronary artery bypass graft surgery

Abstract Objective: To investigate the association between interleukin-35 (IL-35) levels and single nucleotide polymorphisms (rs3761548, rs3761547) of the FoxP3 gene in coronary artery bypass grafting (CABG) patients. Methods: We conducted a prospective study including 140 patients, who were scheduled ...

VEGF gene rs35569394 polymorphism in patients with Polycystic Ovary Syndrome

SUMMARY OBJECTIVE: The relationship between the clinicopathological and sociodemographics characteristics of acral melanomas diagnosed at BACKGROUND: This study aimed to investigate the frequency of VEGF gene insertion (I) / deletion (D) polymorphism (rs35569394) in patients with Polycystic Ovarian Synd...