Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10 -6), and rs7700147, an intergenic variant (P=2.93 × 10 -5). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes

Caracterização tecnológica de jabuticabas 'Sabará' provenientes de diferentes regiões de cultivo Physico chemical characteristcs of 'Sabara' jaboticaba provenients of differents regions of cultivation

Características fisico-químicas de jabuticabas 'sabará', provenientes de 10 diferentes regiões de cultivo localizadas no Estado de São Paulo, foram analisadas de agosto a setembro de 2001 para determinação de sua qualidade. De cada local de cultivo foram colhidos 3 kg de frutos. Diferenças significativas foram observadas em todas as características avaliadas. A média de peso por fruto variou de 3,56 a 7,40g, e os frutos oriundos de pomar situado na cidade de Casa Branca - SP foram os que apresentaram os maiores pesos. As médias do índice de formato e do fruto e do diâmetro oscilaram de 0,962 a 0,990 e de 2,45 a 1,73 cm, respectivamente. A coloração dos frutos foi mais roxa-escura do que roxa. A firmeza dos frutos variou de firme a mole, e os frutos colhidos em pomares situados nas regiões de Casa Branca - SP, Pedregulho - SP e Miguelópolis -SP apresentaram-se mais firmes, sugerindo um maior potencial de conservação pós-colheita. O teor de sólidos solúveis totais variou de 11,6 a 17,9, o pH de 2,91 a 3,70 sendo maiores em jabuticabas colhidas em pomares situados nas cidades de Guaíra-SP e Ituverava-SP. A acidez total titulável, expressa em g de ácido cítrico por 100g, variou de 0,888 a 1,625, os teores de vitamina C variaram de 14,86 a 24,67 mg de ácido ascórbico por 100g, e os de carboidrato solúvel de 0,91 a 11,39g de glicose por 100g, respectivamente. Os resultados levam a concluir que as jabuticabas provenientes de pomares situados na cidade de Casa Branca-SP apresentaram melhor qualidade, sendo adequadas tanto para a indústria como para o consumo de fruta fresca e com maior potencial de conservação pós-colheita.<br>The physical and chemical characteristics of 'sabara' jaboticaba from 10 differents regions of cultivation in São Paulo state were determined from August to September 2001 to evaluated its quality. The average fruit weight varied from 3.56 to 7.40g and it was the highest in jaboticaba fruits harvested in orchard from Casa Branca region. The average sharp index and diameter oscillated from 0.962 to 0.990 and 2.45 to 1.73 cm, respectively. The fruit firmness varied from firm to soft, and the fruits harvested in orchard situated in the Casa Branca, Pedregulho and Miguelopolis region, presented the greatest fruit firmness, suggesting a better potential for postharvest conservation. The ºBrix ranged from 11.6 to 17.9 and the pH from 2.91 to 3.70 being the highest in jaboticaba fruits harvested in Guaira and Ituverava region. The titrable acidity, expressed as g of citric acid per 100g ranged from 0.888 to 1.625, the vitamina C and soluble carbohydrate content ranged from 14.86 to 24.67 mg of ascorbic acid per 100g and from 0.91 to 11.39g of glicose per 100g respectively. The results permitted to conclude that jaboticaba fruits from orchard situated in Casa Branca region presented the greatest quality, thus being more suitable for industrialization as to consumption as fresh fruit and the better postharvest conservation potential