Consulta: subjectFacets:"Genetic association"
Registros recuperados: 4
Data/hora: 12/06/2024 17:17:26

Type 2 diabetes associated variants of KCNQ1 strongly confer the risk of cardiovascular disease among the Saudi Arabian population
Provedor de dados: 74
Autores: Al-Shammari,Maha S.; Al-Ali,Rhaya; Al-Balawi,Nader; Al-Enazi,Mansour S.; Al-Muraikhi,Ali A.; Busaleh,Fadi N.; Al-Sahwan,Ali S.; Al-Elq,Abdulmohsen; Al-Nafaie,Awatif N.; Borgio,Jesu Francis; AbdulAzeez,Sayed; Al-Ali,Amein; Acharya,Sadananda.
Abstract Genome-wide association studies have identified several loci associated with an increased risk for cardiovascular disease (CVD) and type 2 diabetes (T2D). Polymorphisms within the KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) gene are consistently associated with T2D in a number of populations. The current study was undertaken to evaluate the association of 3 polymorphisms of KCNQ1 (rs2237892, rs151290 and rs2237895) with T2D and/or CVD. Patients diagnosed with either T2D (320 patients), CVD (250 patients) or both (60 patients) and 516 healthy controls were genotyped by TaqMan assay run on a real time PCR thermocycler. A statistically significant association was found for SNPs rs151290 (OR = 1.76; 95%CI = 1.02-3.05; p =...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: T2D; CVD; KCNQ1; Genetic association; Saudi population.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400586

Programmed cell death 1 gene (PDCD1) polymorphism and pemphigus foliaceus (fogo selvagem) disease susceptibility
Provedor de dados: 74
Autores: Braun-Prado,Karin; Petzl-Erler,Maria Luiza.
Pemphigus foliaceus, also known as fogo selvagem, is an autoimmune disease of the epidermis characterized by superficial blisters and antibodies against desmoglein 1. It is a multifactorial disease and genetic susceptibility is oligogenic or polygenic. Considering the crucial function of the programmed cell death 1 molecule (PD-1) in the immune response, the aim of this study was to verify if variants of the PDCD1 gene influence susceptibility and resistance to pemphigus foliaceus, in a case - control disease association study. We analyzed patients (n = 154) and unaffected control individuals (n = 325) of the Brazilian population, in respect to the PD1.3(G,A) PD1.5(C,T) and PD1.6(A,G) single nucleotide polymorphisms (SNPs) and also investigated, for the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic association; PD-1; PDCD1; Genetic polymorphism; Pemphigus.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000300003

Association of polymorphisms in the heparanase gene (HPSE) with hepatocellular carcinoma in Chinese populations
Provedor de dados: 74
Autores: Yu,Lixia; Zhang,Xiaoai; Zhai,Yun; Zhang,Hongxing; Yue,Wei; Zhang,Xiumei; Wang,Zhifu; Zhou,Hong; Zhou,Gangqiao; Gong,Feng.
Abstract Heparanase activity is involved in cancer growth and development in humans and single nucleotide polymorphisms (SNPs) in the heparanase gene (HPSE) have been shown to be associated with tumors. In this study, we investigated whether SNPs in HPSE were a risk factor for hepatocellular carcinoma (HCC) by undertaking a comprehensive haplotype-tagging, case-control study. For this, six haplotype-tagging SNPs (htSNPs) in HPSE were genotyped in 400 HCC patients and 480 controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. A log-additive model revealed significant correlations between the HPSE polymorphisms rs12331678 and rs12503843 and the risk of HCC in the overall samples (p = 0.0046 and p = 0.0055). When...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic association; Heparanase; Hepatocellular carcinoma; HPSE gene; PCR-RFLP.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500743

Association of GH and IGF-1 polymorphisms with growth traits in a synthetic beef cattle breed
Provedor de dados: 74
Autores: Pereira,Andréa Pozzi; Alencar,Maurício Mello de; Oliveira,Henrique Nunes de; Regitano,Luciana Correia de Almeida.
The Canchim beef cattle (5/8 Charolais + 3/8 Zebu) has been selected for meat production in Brazil since late 1950. In the present work the effects of growth hormone (GH) and insulin-like growth factor 1 (IGF-1) polymorphisms were investigated in 688 animals born between 1998 and 2000. These animals belonged to two genetic groups, i.e., traditional and new lineages. Genotype effects on expected breeding values for birth weight (BW), weaning weight (WW) and yearling weight (YW) were investigated by the least square method. Significant effects were found for GH genotype on YW (p &lt; 0.05), with positive effects associated with the LV (leucine/valine) genotype. For IGF-1 genotypes, significant effects were found on BW (p &lt; 0.01) and YW (p &lt; 0.01)....
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Beef cattle; Genetic association; Genotype; Growth hormone; Insulin-like growth factor 1.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200009