Navegando por Palavras-chave "GWAS"

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    A Current Snapshot of Common Genomic Variants Contribution in Psychiatric Disorders
    (Wiley, 2016) Santoro, Marcos Leite [UNIFESP]; Moretti, Patricia N. [UNIFESP]; Pellegrino, Renata; Gadelha, Ary [UNIFESP]; Abilio, Vanessa Costhek [UNIFESP]; Hayashi, Mirian Akemi Furuie [UNIFESP]; Belangero, Sintia Iole [UNIFESP]; Hakonarson, Hakon
    In the past decade, numerous advances were achieved in psychiatric genetics. Particularly, the genome wide association studies (GWAS) have contributed to uncovering new genes and pathways associated to psychiatric disorders (PDs). At the same time, with increasing sample sizes in the GWAS, the polygenic risk score (PRS) promoted an additional tool for identification and evaluation the genetic risk quantitatively in PDs. This concept review presents the state of the art GWAS analysis and PRS focusing on the genetic underpinnings of PDs. (C) 2016 Wiley Periodicals, Inc.
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    Genetic variants in gastric cancer: Risks and clinical implications
    (Academic Press Inc Elsevier Science, 2017) Gigek, Carolina Oliveira [UNIFESP]; Calcagno, Danielle Queiroz; Rasmussen, Lucas Trevizani; Santos, Leonardo Caires [UNIFESP]; Leal, Mariana Ferreira [UNIFESP]; Wisnieski, Fernanda [UNIFESP]; Burbano, Rommel Rodriguez; Lourenco, Laercio Gomes [UNIFESP]; Lopes-Filho, Gaspar Jesus [UNIFESP]; Cardoso Smith, Marilia Arruda [UNIFESP]
    Cancer is a multifactorial disease that involves many molecular alterations. Gastric cancer (GC) is the third leading cause of cancer death worldwide. GC is a highly heterogeneous disease with different molecular and genetics features. Therefore, this review focuses on an overview of the genetic aspects of gastric cancer by highlighting the important impact and role of deletions and/or duplications of chromosomal segments, genomic variants, H. pylori infection and interleukin variants, as found in gene expression and newly proposed molecular classification studies. The challenge is to better understand the mechanisms and different pathways that lead to the development and progression of GC.
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    Genome-wide investigation of schizophrenia associated plasma Ndel1 enzyme activity
    (Elsevier Science Bv, 2016) Gadelha, Ary [UNIFESP]; Coleman, Jonathan; Breen, Gerome; Mazzoti, Diego Robles [UNIFESP]; Yonamine, Camila Miyagui [UNIFESP]; Pellegrino, Renata; Ota, Vanessa Kiyomi [UNIFESP]; Belangero, Sintia Iole [UNIFESP]; Glessner, Joseph; Sleiman, Patrick; Hakonarson, Hakon; Hayashi, Mirian Akemi Furuie [UNIFESP]; Bressan, Rodrigo Affonseca [UNIFESP]
    Ndel1 is a DISC1-interacting oligopeptidase that cleaves in vitro neuropeptides as neurotensin and bradykinin, and which has been associated with both neuronal migration and neurite outgrowth. We previously reported that plasma Ndel1 enzyme activity is lower in patients with schizophrenia (SCZ) compared to healthy controls (HCs). To our knowledge, no previous study has investigated the genetic factors associated with the plasma Ndel1 enzyme activity. In the current analyses, samples from 83 SCZ patients and 92 control subjects that were assayed for plasma Ndel1 enzyme activity were genotyped on Illumina Omni Express arrays. A genetic relationship matrix using genome-wide information was then used for ancestry correction, and association statistics were calculated genome-wide. Ndel1 enzyme activity was significantly lower in patients with SCZ (t=4.9