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| Viscardi,Lucas Henriques; Paixão-Côrtes,Vanessa Rodrigues; Comas,David; Salzano,Francisco Mauro; Rovaris,Diego; Bau,Claiton Dotto; Amorim,Carlos Eduardo G.; Bortolini,Maria Cátira. |
| Abstract Hominin evolution is characterized by adaptive solutions often rooted in behavioral and cognitive changes. If balancing selection had an important and long-lasting impact on the evolution of these traits, it can be hypothesized that genes associated with them should carry an excess of shared polymorphisms (trans- SNPs) across recent Homo species. In this study, we investigate the role of balancing selection in human evolution using available exomes from modern (Homo sapiens) and archaic humans (H. neanderthalensis and Denisovan) for an excess of trans-SNP in two gene sets: one associated with the immune system (IMMS) and another one with behavioral system (BEHS). We identified a significant excess of trans-SNPs in IMMS (N=547), of which six of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Human behavior; Evolution; Balancing selection; Immune genes; Behavioral genes. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100067 |
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| Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide. |
| Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727 |
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