Research Article

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02/25/2019
Chronic heart failure; Genotype; Glu298Asp; NOS3 gene; Polymorphism

The eNOS Glu298Asp (rs1799983) polymorphism of the NOS3 gene has been implicated as a risk factor for cardiovascular diseases; however, not all studies find significant associations. We examined this possibility in a Russian (Siberian) population. One hundred patients with chronic heart failure and 40 controls were investigated. PCR analysis was performed ... more

E.S. Goppe; P.E. Maltese; A. Chernova; S.Y. Nikulina; A. Semenchukov; A. Matveeva; E. Manara; M. Bertelli
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CYP2C19*3; Endometriosis; Polymorphism; Steroid

Endometriosis is a pathology that affects women in Brazil and around the world. It is characterized by the presence of endometrial cells outside the uterine cavity, leading to chronic pain, infertility and hormonal cycle deregulations. Ectopic endometrial foci may be responsible for changes in anatomy, in hormonal metabolism, immune and inflammatory systems and the ... more

I.A. Bento; K.S.Fe Silva; K.K.V.O. Moura; C.L.Ribeiro Júnior; I.R. da Costa
04/30/2019
Adolescent; Genetics; Idiopathic; Muscle; Polymorphism; Scoliosis

Several theories have been proposed to explain the etiology of adolescent idiopathic scoliosis (AIS), but none is conclusive. One such theory suggests the primary involvement of muscles due to myopathy, mainly affecting the erector and paravertebral rotator muscles. Studies indicate that there may be an association of AIS with genetic polymorphisms previously ... more

M. Wajchenberg; D.E. Martins; R.P. Luciano; R.C. Araujo; B. Schmidt; A.B.S. Oliveira; E.B. Puertas; S.S. Almeida; F. Faloppa
05/15/2019
Endometriosis; eNOS; Genotype; Infertility; Polymorphism

Endometriosis is a chronic disease with adverse implications for fertility. We investigated the G894T polymorphism in the endothelial nitric oxide synthase gene in fertile and infertile women with endometriosis. This prospective study included a group of 52 women with a laparoscopic diagnosis of endometriosis. DNA was extracted from blood obtained from 47 patients ... more

R.C.P.Ce Silva; L.C. de Faria; K.S.Fe Silva; K.K.V.O. Moura; C.L.Ribeiro Júnior; L.A. Guillo
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Genetic susceptibility; Polymorphism; Protein tyrosine kinase 2; SNP; Type 1 diabetes mellitus

Type 1 diabetes mellitus (T1D) is considered a polygenic disease that is influenced by environmental factors and autoimmune responses to autoantibodies, resulting in metabolic abnormalities. Tyrosine kinase 2 (TYK2) is involved in type I interferon signaling in beta cells, and TYK2 polymorphism rs2304256 has been associated with T1D. We ... more

V. Graciolo; M. Welter; L.P. Campos; B.R. Martins; S.W. Souza; S.N. França; R.R. Réa; G. Picheth; F.G.M. Rego
05/31/2020
Atherosclerosis; eNOS T786C; Nitric oxide; Polymorphism; Stent

Atherosclerosis is a multifactorial chronic-inflammatory disease related to endothelial aggression to the intima layer of medium and large caliber arteries. Hyperlipidemia and atherosclerosis cause eNOS to lose its function, producing superoxide and leading to endothelial dysfunction. The nitric oxide derived from eNOS is anti-atherogenic. Single ... more

A.M. Barbosa; O.S.Dias Neto; K.S.Freitas e Silva; I.B. Lima; U.S. Vilarinho; L.C.A. Gianotti; F.O. de Souza; I.R. da Costa; K.K.V.O. Moura
04/30/2021
Adult-onset; Brazilian population; Childhood-onset; CTLA-4; Polymorphism; Type 1 diabetes

Several studies have described an association between cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism and type 1 diabetes mellitus (T1D) in some ethnic populations, and a lack of association in other populations. Differences in the contribution of the genetic background of T1D onset are age dependent. We conducted a case-control study of a T1D ... more

M.M. Sousa; M. Welter; E. Machado; G. Tonet; L.P. Campos; S. Nesi-França; G. Picheth; F.G.M. Rego

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