A influência da situação conjugal no suporte social em pessoas infectadas pelo HIV

Objetivo: Avaliar a influência da situação conjugal no suporte social percebido por pessoas infectadas pelo vírus da imunodeficiência humana (HIV). Método: Estudo de delineamento transversal, realizado com 179 participantes. Para coleta de dados, utilizou-se a Escala de Suporte Social para pessoas infectadas pelo HIV. Como variável dependente, o suporte social percebido, e como variáveis independentes, as características sociais, demográficas e clínicas. Realizada análise descritiva das variáveis, Teste de Jonckheere-Terpstra e regressão logística. Resultados: Conviver com esposo(a) ou companheiro(a) é fator de proteção quando comparado a ser solteiro(a) ou separado(a), divorciado(a) ou viúvo(a), de forma que a chance de proteção é de 8,84 vezes (IC: 3,43 – 14,25) para o suporte social geral, 5,54 vezes (IC: 2,54 – 8,54) para suporte social emocional, e 4,31 vezes (IC: 0,97 - 7,65) para suporte social instrumental. Conclusão: Ter companheiro(a) é fator de proteção para manutenção do suporte social. Essa avaliação contribui para identificar dificuldades na adesão ao tratamento antirretroviral e elaborar estratégias de enfrentamento da doença e manutenção de comportamentos favoráveis à adesão

A influência da situação conjugal no suporte social em pessoas infectadas pelo HIV

Objetivo: Avaliar a influência da situação conjugal no suporte social percebido por pessoas infectadas pelo vírus da imunodeficiência humana (HIV). Método: Estudo de delineamento transversal, realizado com 179 participantes. Para coleta de dados, utilizou-se a Escala de Suporte Social para pessoas infectadas pelo HIV. Como variável dependente, o suporte social percebido, e como variáveis independentes, as características sociais, demográficas e clínicas. Realizada análise descritiva das variáveis, Teste de Jonckheere-Terpstra e regressão logística. Resultados: Conviver com esposo(a) ou companheiro(a) é fator de proteção quando comparado a ser solteiro(a) ou separado(a), divorciado(a) ou viúvo(a), de forma que a chance de proteção é de 8,84 vezes (IC: 3,43 – 14,25) para o suporte social geral, 5,54 vezes (IC: 2,54 – 8,54) para suporte social emocional, e 4,31 vezes (IC: 0,97 - 7,65) para suporte social instrumental. Conclusão: Ter companheiro(a) é fator de proteção para manutenção do suporte social. Essa avaliação contribui para identificar dificuldades na adesão ao tratamento antirretroviral e elaborar estratégias de enfrentamento da doença e manutenção de comportamentos favoráveis à adesão

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7, TNXB, LRP12, LOC283335, SEPT9, and AKT2, and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation

Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1

Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10-5) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p < 1 × 10-5). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 × 10-10, odds ratio 1.15 [1.10-1.21]). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA. Gene-expression studies demonstrated a trend toward increased LRP1 expression for the rs1466535 CC genotype in arterial tissues; there was a significant (p = 0.029) 1.19-fold (1.04-1.36) increase in LRP1 expression in CC homozygotes compared to TT homozygotes in aortic adventitia. Functional studies demonstrated that rs1466535 might alter a SREBP-1 binding site and influence enhancer activity at the locus. In conclusion, this study has identified a biologically plausible genetic variant associated specifically with AAA, and we suggest that this variant has a possible functional role in LRP1 expression

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.

OBJECTIVE: Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS: We have conducted a meta-analysis of genome-wide association tests of ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS: Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10(-8)). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 × 10(-4)), improved β-cell function (P = 1.1 × 10(-5)), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10(-6)). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS: We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

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