Estimation of genetic parameters and relationships between type traits and milk yield of Holstein cows in Turkey / [Estimativa de parâmetros genéticos e relações entre características de tipo e produção de leite das vacas Holstein na Turquia]

In this study, milk yield, reproductive yield, and type traits of 533 Holstein cows in the first lactation raised in 54 farms were examined. In the three-year study, phenotypic (rP) and genetic (rG) correlations between type traits and milk yield were estimated based on the variance elements and heritability of the type traits of Holstein cows in the first lactation. Linear identification and scoring systems have been applied to classify the cows according to type traits. Heritability and correlations were estimated with ASREML models. The type traits included stature, angularity, rump width, hocks, rear udder height, central ligament, teat length, body capacity, feet and legs, udder composite and final score for genetic correlations with 305-day milk yield were estimated as -0.49, -0.14, -0.93, 0.35, 0.40, 0.11, -0.65, 0.70, 0.31, 0.54, and 0.70, for phenotypic correlations were estimated as 0.28, 0.28, 0.30, 0.21, 0.35, 0.39, -0.06, 0.46, 0.48, 0.56, and 0.58 respectively. Among the phenotypic correlations between the type traits, especially the phenotypic correlations between the final score and various type traits were found to be high and significant. The fact that these traits are in high correlation with other traits and milk yield may enable these to be used as indirect selection criteria in the selection for milk yield.(AU)

Neste estudo, foram examinadas a produção de leite, a produção reprodutiva e as características de tipo de 533 vacas Holstein na primeira lactação criadas em 54 fazendas. No estudo trienal, as correlações fenotípicas (rP) e genéticas (rG) entre características de tipo e produção de leite foram estimadas com base nos elementos de variação e hereditariedade das características de tipo das vacas Holstein na primeira lactação. Sistemas de identificação linear e de pontuação foram aplicados para classificar as vacas de acordo com os traços de tipo. A hereditariedade e correlações foram estimadas com os modelos ASREML. Os traços de tipo incluíam estatura, angularidade, largura da alcatra, jarretes, altura do úbere traseiro, ligamento central, comprimento das tetas, capacidade corporal, pés e patas, composição do úbere e pontuação final para correlações genéticas com a produção de leite de 305 dias foram estimados como -0. 49, -0,14, -0,93, 0,35, 0,40, 0,11, -0,65, 0,70, 0,31, 0,54, e 0,70, para correlações fenotípicas foram estimadas como 0,28, 0,28, 0,30, 0,21, 0,35, 0,39, -0,06, 0,46, 0,48, 0,56, e 0,58 respectivamente. Dentre as correlações fenotípicas entre os traços de tipo, especialmente as correlações fenotípicas entre a pontuação final e vários traços de tipo foram encontradas como altas e significativas. O fato destes traços estarem em alta correlação com outros traços e a produção de leite pode permitir que sejam usados como critérios de seleção indiretos na seleção para a produção de leite.(AU)

Diferenciación genética de las poblaciones de Felis catus en los municipios de Restrepo y Darién del Valle del Cauca, Colombia / Genetic differentiation of Felis catus populations in the municipalities Restrepo and Darién of Valle del Cauca, Colombia

Los genes implicados en los rasgos del pelaje de los gatos son útiles para el análisis de la estructura genética que presentan sus poblaciones. El objetivo de este trabajo fue determinar si existe diferenciación genética entre las poblaciones de gato doméstico de los municipios de Restrepo y Darién, los cuales se encuentran separados por el "Lago Calima". Para esto se estimaron las frecuencias alélicas de diversos marcadores del pelaje y se determinó si estas poblaciones presentaban diferencias significativas en su estructura génica o si se encontraban en equilibrio Hardy­Weinberg, además, se realizó una comparación con otras poblaciones inventariadas en el Valle del Cauca. Posteriormente, se llevó a cabo un análisis de componentes principales (ACP-Biplot), para conocer la correlación entre las frecuencias alélicas y los aportes de cada una de ellas a la variabilidad. También se realizó una prueba de Mantel para estimar si existía correlación entre los índices de fijación (FST) y las distancias geográficas. La prueba de Mantel mostró que el gen Orange es el único que muestra una correlación positiva entre los índices de diferenciación FST y las distancias geográficas. La comparación de las poblaciones de interés con las del Valle del Cauca, evidenció que los genes que aportaron más a la variabilidad fueron Dilution (19,08%), Long hair (16,09%), Agouti (16,06%) e Inhibitor (14,04%). Sin embargo, se encontró que las poblaciones de Restrepo y Darién tienen perfiles genéticos similiares y se comportan como una sola según los valores del equilibrio Hardy-Weinberg y los FST. Debido a que no hay diferencias significativas entre las poblaciones estudiadas, se concluye que, aunque el Lago Calima sea una barrera geográfica, no tiene un efecto significativo en la diferenciación genética entre las poblaciones de gatos de Restrepo y Darién.

The genes involved in cat coat traits are useful for the analysis of genetic structure within a population. The objective of this paper was to determine if any genetic differences exist among domestic cat populations from the municipalities of Restrepo and Darien, which are separated by Calima Lake. To analyze population structure, we estimated allelic frequencies of several coat markers, tested for alignment with the Hardy-Weinberg equilibrium, and compared our populations of interest to others from the Valle del Cauca region. Subsequently, we performed a principal components analysis (PCA-Biplot) to determine the correlation between allelic frequencies and their contributions to variability. A Mantel test was also used to estimate possible correlation among differentiation indexes (FST) and geographic distances. We performed the Mantel test on the Orange gene and identified a positive correlation among differentiation indexes (FST) and geographical distances. After comparing our populations of interest to others in the Valle del Cauca, we observed that the genes with the greatest contribution to variability were Dilution (19,08%), Long hair (16,09%), Agouti (16,06%) and Inhibitor (14,04%). However, we also found that the Restrepo and Darien populations of interest had similar genetic profiles, and aligned with the Hardy-Weinberg equilibrium, and the FST. Due to the absence of significant differentiation between the populations studied, we conclude that Calima Lake does not have a significant effect on any differentiation between the cat populations of Restrepo and Darien.

Frecuencia de enfermedades huérfanas en Cartagena de Indias, Colombia / Frequency for genetic orphan diseases in Cartagena de Indias, Colombia

RESUMEN Objetivo Estimar la frecuencia de enfermedades huérfanas (EH) o raras (ER) de origen genético en Cartagena de Indias, Colombia. Metodología Se realizó un estudio descriptivo con datos de los Registros Individuales de Prestación de Servicios (RIPS), del periodo 2003-2010, conservados por el Departamento Administrativo Distrital de Salud-DADIS. Fueron escogidas las EH de origen genético a partir de la clasificación del Ministerio de Salud Colombiano, y que se identifican con la referencia Q en los Códigos Internacionales de Enfermedad (CIE10). Resultados En total se registraron 522 181 personas que consultaron al sistema de salud. El 0,8 % (n=16 527) tuvieron algún diagnóstico Q. Finalmente, 391 personas (0,075 %) tuvieron impresión diagnóstica de EH de origen genético. En esta población se encontraron 75 impresiones diagnósticas distintas. Las Malformaciones y Deformidades Congénitas del Sistema Osteomuscular (Q65-Q79) fueron las más frecuentes (38,6 %), seguidas por Otras Malformaciones Congénitas (Q080-089) con 16,6 %. Conclusiones Se obtuvo el primer reporte de la frecuencia de las EH de origen genético en la segunda ciudad más poblada sobre el litoral del Caribe Colombiano. Es posible que en los RIPS haya un subregistro de las ER que dificulta conocer la prevalencia real.(AU)

ABSTRACT Objective Estimating the frequency of genetic orphan diseases in Cartagena de Indias (Colombia). Methodology A cross-sectional study was carried out employing data from the Health Care Service Individual Records (RIPS) of 2003-2010, kept by the District Administrative Department of Health-DADIS- in Cartagena de Indias. Genetic ODs included in national classification from Colombian Ministry of Health were chosen, and those identify by the Q reference according to the International Codes of Disease (ICD10) were finally selected for descriptive analysis. Results A total of 522 181 people who consulted the health system were recorded. 0.8 % (n=16 527) had a diagnosis Q. Finally, 391 people (0.075 %) had diagnostic impression of genetic OD. Within this population, 75 different diagnostic impressions were found. Congenital malformations and deformities of the musculoskeletal system (Q65-Q79) were the most frequent (38.6 %), followed by Other Congenital Malformations (Q080-089) with 16.6 %. Conclusions It was obtained the first report of the frequency of genetic orphan diseases from the second largest on the Colombian Caribbean coast city. It is suspected that misreporting in RIPS database is reducing actual frequency of OD. Further active search could reveal complete prevalence.(AU)

Seleção para a produção de ovos em períodos parciais e acumulados em linhagem de frango de corte comercial / Egg production selection in partial and accumulated periods in a commercial broiler line

Objetivou-se com este estudo estimar parâmetros genéticos para produções parciais e acumuladas de ovos em uma linha fêmea de frangos de corte comercial. Foram considerados 10 períodos mensais entre 25 e 64 semanas, três períodos parciais de 25 a 32, 33 a 48 e 49 a 64 semanas, e três períodos acumulados de 25 até 30, 40 e 50 semanas de idade. Os componentes de covariância e parâmetros genéticos foram obtidos pelo método da máxima verossimilhança restrita, sob o modelo animal considerando o efeito fixo de incubação e os efeitos aleatórios genético aditivo e residual. As estimativas de herdabilidade variaram de 0,12 a 0,41. Evidenciou-se que os períodos anteriores e posteriores ao maior nível de produção apresentam maior variabilidade genética. As correlações genéticas entre os períodos de produção de ovos estudados variaram de -0,12 a 0,98. De modo geral, o padrão de variação foi semelhante entre as estratégias avaliadas, e todas foram geneticamente associadas com a produção total. Os resultados deste estudo mostraram que a melhoria da produção total é viável por meio de seleção de registros parciais. No entanto, caso se considere a eficiência relativa de seleção, o segundo mês e os períodos a partir da quadragésima semana de produção seriam os mais indicados.

The aim of this study was to estimate genetic parameters for partial and cumulative egg production in a commercial broiler female line. Ten monthly periods between 25 and 64 weeks, three partial periods of 25 to 32, 33 to 48 and 49 to 64 cumulative weeks and three periods of 25 to 30, 40 and 50 weeks of age and total egg production were considered. The restricted maximum likelihood method under the animal model was used to estimate the covariance components and genetic parameters. The fixed effect of incubation and the additive genetic and residual random effects were considered. The estimated heritability ranged from 0.12 to 0.41. These estimates showed that the anterior and posterior periods of the higher production have greater genetic variability. The genetic correlations between periods of the egg production studied ranged from -0.12 to 0.98. In general, the pattern of variation was similar between the strategies evaluated and all were genetically associated with the total egg production. The results of this study showed that the improvement of the total egg production is feasible by selection of partial records. However, considering the relative efficiency of selection, the second month and the periods from the fortieth week of production would be the most suitable.

Taxa de fertilidade de novilhas de diferentes grupos genéticos com primeiro serviço aos 14 meses de idade / Fertility rate of heifers of different genetic groups with 1st service at 14 months of age

Foram avaliadas as taxas de reconcepção de 98 novilhas primíparas (34 Guzerá - G, 32, 1/2 Guzerá x 1/2 Nelore - GN e 32,1/2 Red Angus x 1/2 Nelore - AN) com 14 meses de idade e peso médio de aproximadamente 249,65kg, criadas em pastos de Brachiaria brizantha cv Marandu. Na segunda estação de monta (EM), foram utilizadas apenas as 36 primíparas gestantes na primeira EM (três G, nove GN e 24 AN), com média de idade de 26 meses e peso corporal de 313,67±25,01kg, 336,50±45,84kg e 399,86±44,45kg, respectivamente, para as fêmeas dos grupos G, GN e AN. O grupo AN apresentou ganho médio diário (GMD) de 0,30±0,06 (kg/dia) e maiores taxas (58,33) de reconcepção (P<0,05), comprovando que a heterose resultante do cruzamento entre raças distintas com maior distância genética (Bos taurus taurus x Bos taurus indicus) proporciona maior desempenho produtivo e reprodutivo.

A total of 98 heifers of three genetic groups: 34 Guzerá (G), 32, 1/2 Guzerá x 1/2 Nelore (GN) and 32 1/2 Red Angus x 1/2 Nelore (AN), 14 month old and average body weight of 249,65kg, raised in Brachiaria brizantha cv Marandu were used to evaluate reconception rates. In the second breeding season (BS), only those 36 pregnant in the first BS (three G, nine GN and 24 AN), age 26 months and body weight of 313.67±25.01kg, 336.50±45.84kg and 399.86±44.45kg, respectively, G , GN and AN were evaluated. The highest reconception rate (58.33%, P<0.05) was registered for the AN group and showed that average daily gain of 0.30±0.06kg, showing that crosses between Bos taurus taurus x Bos taurus indicus leads to higher reproductive and productive performances.

Etiopatogenia de la obesidad / Etiopathogenesis of obesity

La investigación de los factores etiopatogénicos de la obesidad, sean estos ambientales o genéticos, ha influido fuertemente en el desarrollo de las estrategias para controlar la enfermedad. Se considera a la obesidad como una enfermedad en la cual confluyen factores genéticos y ambientales, pero no se han dilucidado cabalmente los mecanismos de regulación del balance energético, cuyas alteraciones favorecen el incremento de la adiposidad en humanos. Entre los factores ambientales, además de la alimentación alta en calorías y el sedentarismo, se describen factores predisponentes sociales, culturales y familiares, así como situaciones o etapas fisiológicas de la vida que pueden gatillar aumento de peso. Aunque los factores y patologías genéticas se pueden evidenciar en un bajo porcentaje de los sujetos obesos, la predisposición genética a la obesidad se puede expresar a través de algunas características metabólicas, como un bajo gasto energético de reposo, mala oxidación de grasas o un bajo nivel de actividad física espontánea.

The investigation of the etiological factors of obesity, whether genetic or environmental, has strongly influenced the development of strategies to control the disease. Obesity must be considered as a disease in which genetic and environmental factors converge. However, the mechanisms of regulation of the energy balance, which changes favoring increased adiposity in humans, are not fully elucidated. Among environmental factors, in addition to high-calorie diet and sedentary lifestyle, it has been described social, cultural and family predisposing factors, as well as physiological conditions or stages of life that can trigger weight gain. Although genetic factors and pathologies can be evidenced in a low percentage of obese subjects, genetic predisposition to obesity can be expressed through some metabolic characteristics such as low metabolic rate, poor oxidation of fats or a low level of spontaneous physical activity.

A population genetic study of 22 autosomal loci of single nucleotide polymorphisms / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate polymorphisms and forensic efficiency of 22 non-binary single nucleotide polymorphism (SNP) loci.</p><p><b>METHODS</b>One hundred ethnic Han Chinese individuals were recruited from Dongguan, Guangdong. The 22 loci were genotyped with matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS).</p><p><b>RESULTS</b>Nine loci were found with a single allele, 4 loci were found to be biallelic, whilst 9 loci were found to have 3 alleles. For 13 polymorphic loci, the combined discrimination power and power of exclusion were 0.999 98 and 0.9330, respectively. For the 9 non-biallelic loci, the combined discrimination power and power of exclusion were 0.9998 and 0.8956, respectively. For motherless cases, the combined power of exclusion was 0.6405 for 13 polymorphic SNPs and 0.6405 for 9 non-binary SNPs.</p><p><b>CONCLUSION</b>Non-binary loci have a greater discrimination power and exclusion power per SNP.</p>

Medidas corporais de novilhos das gerações avançadas do cruzamento rotativo entre as raças Charolês e Nelore, terminados em confinamento / Body measurements of feedlot finished steers from advanced generations of rotational crossbreeding between Charolais and Nellore breeds

Foram avaliados, durante a terminação, os efeitos da heterozigose e do grupo genético nas medidas corporais de novilhos puros (Charolês - C e Nelore - N) e mestiços da segunda (G2) (3/4C1/4N e 3/4N1/4C), da terceira (G3) (5/8C3/8N e 5/8N3/8C) e da quarta (G4) (11/16C5/16N e 11/16N5/16C) geração de cruzamento rotativo. Os novilhos foram confinados durante 97 dias, sendo alimentados com a mesma dieta, contendo 12,32 por cento de proteína bruta e 2,96Mcal de energia digestível kg-1 de matéria seca, com relação volumoso:concentrado de 52:48. Os mestiços apresentaram maiores alturas de cernelha e garupa que a média dos puros tanto no início como no final do confinamento em todas as gerações do cruzamento. No entanto, os animais da G3 tiveram menor taxa de crescimento de garupa que os puros, com heterose de -35,97 por cento. A heterose para as alturas de cernelha e garupa acompanhou a flutuação do grau de heterozigose do cruzamento, porém com diferentes magnitudes. A heterose da G2 para a G3 teve aumento de 48,18; 18,32; 55,15 e 3,20 por cento para as alturas de cernelha inicial e final e para a altura de garupa inicial e final, respectivamente. Dentro dos sistemas de acasalamento, os animais com predominância de Nelore apresentaram maiores alturas de cernelha e garupa que aqueles com maior predominância de Charolês. Os animais mestiços apresentaram maior perímetro torácico e comprimento inicial em todas as gerações, resultando em heteroses de 5,56; 7,73 e 5,91 por cento e de 7,23; 8,98 e 8,99 por cento, respectivamente, na G2, na G3 e na G4. Todas as medidas corporais foram correlacionadas significativamente com o peso, tanto no início como no fim do confinamento.

The objective of this research was to evaluate the heterozygosis and genetic group effects on body measurements of feedlot finished steers, straightbreds (Charolais - C and Nellore - N), and crossbreds from second (G2) (3/4C 1/4N and 3/4N 1/4C), third (G3) (5/8C 3/8N and 5/8N 3/8C) and fourth (G4) (11/16C 5/16N and 11/16N 5/16C) generation of rotational crossbreeding. The steers were fed during 97 days with the same diet, containing 12.32 percent crude protein and 2.96Mcal of digestible energy kg-1 of dry matter, with roughage: concentrate ratio of 52: 48. Crossbred steers showed higher withers and rump heights, at the beginning and at end of the feedlot period, in relation to straightbreds in alls generations of crossbreeding. However, G3 animals showed lower rump growth rate than the straightbreds, with the heterosis -35.97 percent. The heterosis for rump and withers heights followed the fluctuation of the degree of heterozygosis of the crossbreeding, however, with different magnitudes. Heterosis from G2 to G3 increased 48.18; 18.32; 55.15 and 3.20 percent for initial and final heights of withers and for initial and final heights of rump, respectively. Within the crossbreeding systems, animals with Nellore predominance had higher rump and withers heights than those with Charolais predominance. Crossbred animals had greater thoracic perimeter and initial body length in all crossbreeding generations, with the heterosis 5.56; 7.73 and 5.91 percent and, 7.23; 8.98 and 8.99 percent, respectively, in G2, G3 and G4. All the body measurements were significantly correlated with body weight at the beginning and at the end of the feedlot period.

La carga de la enfermedad genética en Colombia, 1996-2025 / Burden of Genetic Disease in Colombia, 1996-2025

Objetivo. Establecer la carga de la enfermedad genética en Colombia, según los parámetros de crecimiento de la población hasta el año 2025. Métodos. Se calculó la frecuencia de nuevos casos de enfermedades genéticas y de malformaciones congénitas, y se establecieron los años de vida potencialmente perdidos, la causa de la incapacidad y la causa de muerte por estas patologías, ponderando los datos de acuerdo con el crecimiento y la expectativa de vida de la población colombiana desde 1996 hasta el año 2025. Resultados. La enfermedad genética tiene una frecuencia que oscila entre 37,3 y 52,8 por cada 1.000 habitantes. En esta cifra se incluyen las malformaciones congénitas que corresponden al 50 del total de las patologías estudiadas. Conclusiones. Hay una carga potencial de enfermedad genética que plantea la necesidadde implementar más centros para el entrenamiento de médicos genetistas y personal auxiliar que puedan, en el futuro, brindar servicios adecuados de diagnóstico y asesoría genética.

The Study About Intra-Familial Transmission of the Neurological Soft Signs in Schizophrenia

OBJECTIVES: Neurological soft signs have been regarded as endophenotypes associated with the genetic basis of schizophrenia. This study was to investigate the intra-familial correlations of the neurological soft signs according to their genetic loading. METHODS: Schizophrenic patients(N=14) were included, who had one parent with a family history of schizophrenia and the other without it. Genetic loading was determined by the patient's family history of schizophrenia using the Family Interview for Genetic Studies(FIGS). These parents were subdivided into two groups. The first group was designated as'presumed carriers'(N=9) of genetic loading, who had one or more schizophreic first- or second-degree relatives. The second group was designated as'presumed non-carriers'(N=11) of genetic loading, who had no schizophrenic first- or second-degree relatives. Normal controls(N=12) consisted of people without schizophrenic relatives. NSS were evaluated using the Neurological Evaluation Scale-Korean Version (NES-K), and the intra-familial correlations of NSS were tested using the Intra-Class Coefficients(ICC) method. RESULTS: The scores of Motor Coordination subdimension of NES-K were significantly correlated between the patients and their presumed carriers(ICC=.804, p=.016), but not significantly correlated between the patients and their presumed noncarriers. In other subdimensions of NES-K, no significant correlation were found between the patients and their parents regardless of the genetic loading. But, there were no statistically significant differences in the scores of Motor Coordination subdimension of NES-K between the patients and controls. CONCLUSION: This study did not prove that the neurological soft signs might be an endophenotype of schizophrenia that cosegregate with the genetic loading. The future study using more subjects than this would be needed.

Estimação de tendência genética para produção de leite na raça Holandesa no estado de Minas Gerais / Estimate of genetic trend for milk production in Holstein in the State of Minas Gerais

Utilizaram-se 75.567 registros de produção de leite, de 40.941 vacas da raça Holandesa, distribuídos em 561 rebanhos e obtidos no período de 1980 a 2002. Valores genéticos de vacas e touros, obtidos por meio de modelo animal, foram usados para estimação de tendências genéticas, considerando-se as quatro trilhas de seleção conectando duas gerações. Estimativas de componentes de variância e valores genéticos previstos foram obtidos por meio do sistema MTDFREML. O modelo de análise incluiu os efeitos fixos de rebanho-ano-estação de parto, grupo genético, idade da vaca ao parto como covariável (efeitos linear e quadrático) e os efeitos aleatórios de animal, permanente de meio e erro. O maior valor de ganho genético anual, 57,7kg/ano, foi para a trilha touros pais de touros no período de 1986 a 1991. Para a trilha vacas mães de touros, os valores foram negativos e para vacas mães de vacas passou de negativo de 1970 a 1985 para 16,9kg/ano, de 1986 a 1999. Quando as trilhas de seleção foram combinadas, o ganho genético anual estimado no período 1970 a 1999 foi 6,71± 3,78kg, correspondendo a 0,1 por cento da média. As estimativas de tendência genética obtidas estão muito aquém do teoricamente possível.

Production records from 75,567 lactations of 40,941 Holstein cows in 561 herds from 1980 to 2002 were used. Predicted cow and sire breeding values from an animal model were used to estimate genetic trend considering the four selection paths connecting two generations. The variance component estimates and breeding value predictions were obtained using the MTDFREML program package. The model of analysis accounted for the fixed effects of herd-year-season of calving, genetic group, age of calving as covariate (linear and quadratic) and the random effects of animal, permanent environment and error. The greatest annual genetic gain estimate was 57.7kg/yr for the path of sires of bulls from 1986 to 1991. For the path of dams of bulls, estimates were negative and for dams of cows changed from negative from 1970 to 1985 to 16.9kg/yr, from 1986 to 1999. When all paths of selection were combined, estimated annual genetic gain from 1970 to 1999 was 6.71± 3.78kg, corresponding to 0.1 percent of the average production. Estimates of genetic trend were much less than theoretically possible.

Estudo da subdivisão genética da raça Mangalarga Marchador / Study on genetic subdivision of the Mangalarga Marchador horse breed

Foram analisadas as informações de 233.214 animais inscritos no arquivo zootécnico da Associação Brasileira dos Criadores do Cavalo Mangalarga Marchador, descendentes de 16 ancestrais com contribuição genética mínima de até 1 por cento para a população atual. Análises de componentes principais foram feitas com o intuito de agrupar animais geneticamente semelhantes e o de avaliar a subdivisão da raça em famílias ou grupos genéticos distintos. A média do coeficiente de parentesco entre animais da atual população e os ancestrais de maior contribuição genética variou de 4,7 por cento, para a égua Herdade Alteza, a 0,7 por cento, para o garanhão Tabatinga Fanfarra. A atual população da raça Mangalarga Marchador é constituída, em ordem de importância, por cinco grupos genéticos descendentes dos animais Herdade Alteza e Seta Caxias, Providência Itu e Tabatinga Predileto, Abaíba Marengo, Tabatinga Cossaco e Angaí Miron.

Association between Schizophrenia and the Genetic Polymorphism of DRD3, DRD4 and HTR2A / 대한진단검사의학회지

BACKGROUND: Dopamine and serotonin receptors are candidate genes for the genetic study of schizophrenia because of their implication in the pathophysiology and etiology of schizophrenia (serotonine- dopamin hypothesis). A population-based association study was performed between schizophrenics and normal controls to identify the susceptibility genes. METHODS: A total of 145 schizophrenics and 242 normal controls were recruited. Ser9Gly polymorphism of DRD3, 12 bp repeat of DRD4, and 102T/C of HTR2A were selected as candidate polymorphism. The molecular techniques such as polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-polyacrylamide gel electrophoresis were used. Chi-square analysis was performed to find any differences between two groups and logistic linear regression was tested to evaluate the interaction between three genes. RESULTS: There were no significant differences in allele frequencies and genotype frequencies of the three genetic polymorphism. Stratified by sex, the difference of DRD4 allele (P=0.065) and HTR2A allele (P=0.083) and genotype (P=0.054) was observed between male patients and controls; also noted was the difference of HTR2A genotype (P=0.080) between female patients and controls. Stratified by age of onset, the difference in the linear trend of DRD3 between early-onset patients and normal control (P=0.003) was observed. Stratified by family history, the difference in the linear trend of DRD4 (P=0.008) was also observed. Logistic linear regression with 90 patients who had early-onset phenotype (< or =20 year-old) or family history showed a significant result in interaction term (P=0.053). CONCLUSIONS: The finding that there were significant results only after stratification may imply a different genetic load on each subgroup of the disease. The interaction of genes between DRD3, DRD4, and HTR2A in a subgroup with supposedly high genetic background may support the serotonindopamine hypothesis. This, however, should be verified hereafter in large-scale studies.

Impact of Family History on Gender Differences of Clinical Features in Schizophrenics / 신경정신의학

OBJECTIVE: This study examined gender differences on sociodemographic factor and clinical feature among patients with schizophrenia and the impact of family history on gender differences of clinical course and clinical characteristics. METHOD: Patients who admitted to Seoul National Mental Hospital from March 1996 to September 1996 and met the diagnostic criteria for schizophrenia by DSM-N were studied. The number of patients was 177(92 men and 85 women), among them with family history of first degree relatives schizophrenia was 33(13 men 20 women). Sociodemographic factor, age of onset, duration of illness, number of admission, dosage of antipsychotics(chlorprormazine equivalent), past history of suicidal attempts and clinical symptoms assessed by Brief psychiatric Rating Scale(BFRS) and Positive and Negative Syndrome Scale(PANSS) were compared by gender. Furthermore, gender differences of clinical features were compared by presene or absence of family history. RESULTS: There were no gender differences in education, religions, occupational status, family history, duration of illness, number of admission, dosage of drugs, suicidal attempts and clinical subtypes, but more female schizophrenic patients were married and age of onset was significantly earlier in male patients. In clinical symptoms were compared with PANSS, negative type is significantly more in male patients but positive type is more in female, with BPRS, perceptul-thought disturbance factor and anxiety-depression factor were significantly higher in female patients. The age of onset was no significantly different in family history positive group but significantly earlier onset of male patients in negative group. Clinical symptoms with BFRS were no significant differences in family history positive group, but perceptual-thought disturbance factor and anxiety-depression factor were higher in female patients in negative group. CONCLUSIONS: The findings coupled with reports from other investigators, support that both gender and genetic loading contribute to the heterogeneity of schizophrenia.