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| 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 |
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| 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 |
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| 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 |
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