Agregación familiar y factores de riesgo de asma bronquial en individuos afectados / Familial aggregation and risk factors for bronchial asthma in affected individuals

Introducción: La agregación familiar del asma se reconoce desde 1 860 a constatarse en varias generaciones de una familia. Objetivo: Determinar la agregación familiar para asma bronquial y los factores de riesgo. Material y Métodos: Se realizó una investigación observacional, analítica, longitudinal, retrospectiva, casos/control a partir de la población perteneciente al área de salud Darío Calzadilla, en Banes, provincia Holguín, durante octubre 2020-marzo 2021. El universo abarcó la totalidad de individuos diagnosticados y sus familias. Por muestreo aleatorio simple, se obtuvo la muestra de 77 casos. Se conformó el grupo control a razón de 3:1, que incluyó 231 individuos sin antecedentes de enfermedad. Fueron aplicados criterios de inclusión/exclusión. Fueron utilizados los estadígrafos: Chi cuadrado, Odd Ratio (OR) e intervalo de confianza. Se estudiaron las variables: edad, grado de consanguinidad y factores de riesgo. Se obtuvo el árbol genealógico. Se cumplieron los requisitos bioéticos. Resultados: Los familiares de primer grado (47 individuos 17 por ciento) y segundo grado (23 individuos 4,3 por ciento) de consanguinidad mostraron la mayor incidencia de la enfermedad. Los grupos de edades 40-49 años (51 individuos, 22,8 por ciento) y 30-39 años (32 individuos, 22,3 por ciento), resultaron los más afectados. Los factores de riesgos mostraron asociación para la enfermedad (X2=111,15 p ≤ 0,001). El hábito de fumar (X2=132,9 OR=6,18 IC95 por ciento (4,49; 8,51)) y los antecedentes familiares de la enfermedad (X2=13,6 OR=1,73 IC95 por ciento (1,29; 2,32)) expresaron asociación altamente significativa. Se demostró agregación familiar para la enfermedad (X2=185,32 OR=9,97 IC95 por ciento (6,7; 14,84)). Conclusiones: El asma bronquial es una enfermedad multifactorial, compleja, poligénica con agregación familiar demostrada(AU)

Introduction: Familial aggregation of asthma has been recognized since 1860 and observed in several generations in one family. Objective: To determine familial aggregation of bronchial asthma as well as its risk factors. Material and Methods: An observational, analytical, longitudinal, and retrospective case-control study was conducted on the population belonging to Darío Calzadilla health area in Banes, Holguín province, from October 2020 to March 2021. The universe consisted of all the individuals diagnosed and their families. A sample composed of 77 cases was obtained by simple random sampling. The control group was formed at a ratio of 3:1, including 231 individuals without previous history of the disease. Inclusion and exclusion criteria were applied. The following stadigraphs were used: Chi-square test, Odds Ratio (OR), and confidence interval. The variables analyzed included age, degree of consanguinity, and risk factors. The family tree was obtained. Bioethical principles were fulfilled. Results: The first-degree relatives (47 individuals; 17 percent) and second-degree (23 individuals; 4,3 percent) of consanguinity showed a higher incidence of the disease. The age group 40-49 years (51 individuals; 22,8 percent) and 30-39 years (32 individuals; 22,3 percent), resulted to be the most affected. The risk factors evidenced an association with the disease (X2=111,15 p≤0,001). The smoking habit (X2=132,9 OR=6,18 95 percent CI (4,49; 8,51)) and family history of the disease (X2=13,6 OR=1,73 95 percent CI (1,29; 2,32)) expressed a highly significant association. Familial aggregation of the disease was demonstrated (X2=185,32 OR=9,97 95 % CI (6,7;14,84)). Conclusions: Bronchial asthma is a complex, multifactorial, polygenic disease with confirmed familial aggregation(AU)

Investigation and Analysis of Familial Aggregation of Helicobacter pylori Infection / 胃肠病学

Background: Helicobacter pylori (Hp) infection is an important public health problem, and the transmission mode of Hp is not yet fully understood, however, human-to-human transmission route has been widely recognized, thus familial aggregation may occur for Hp infection. Aims: To explore the Hp infection in family members of Hp-positive patients and to analyze the familial aggregation of Hp infection. Methods: A total of 976 patients who underwent 14C-urea breath test (14C-UBT) from January 2018 to January 2019 were enrolled. According to Hp infection, the subjects were divided into Hp-positive group (case group) and Hp-negative group (control group), and all family members of all the subjects were encouraged to detect Hp infection. The Hp infection of family members in the two groups, the consistence of Hp infection between husband and wife, and the relationship between Hp-positive parents and Hp infection of children in case group were analyzed, and the goodness-of-fit test for binomial distribution was used to explore familial aggregation of Hp infection. Results: Among the 493 complete families who completed the survey, Hp-positivity rate in parents, spouses, children in case group were 70.6%, 62.1%, 65.9%, respectively, and were significantly higher than those in parents, spouses, children in control group (63.2%, 54.4%, 56.7%, respectively) (P0.05). Among 548 children in case group, 361 children were Hp positive, and the infection rate was increased with the increase of parental infection (P<0.05). The goodness-of-fit test showed that there were statistically significant differences in the actual households distribution and theoretical households distribution of Hp infection (P<0.05). Conclusions: There is a certain familial aggregation of Hp infection. When a member of the family is infected, the risk of Hp infection of parents, spouses and children may increase.

Clinical characteristics of familial aggregation and risk factors in first -degree relatives of migraineprobands / 中国神经精神疾病杂志

Objective To examine the clinical characteristics of familial aggregation in migraineurs and to ana-lyze the risk factors. Methods Seventy-two migraineurs were recruited and divided into two subgroups according to family migraine history. The subjects were interviewed in detail with questionnaire including age, disease duration, age at migraine onset,migraine severity, frequency of headache,duration of each attack, aura, unilateral pain, pulsate pain, family history of migraine, family members and other factors. Multi-factors logistic regression analysis was performed to analysis the risk factors after single variable analysis. Results Of 72 migraine patients, 37(51.4%) reported that at least one first-degree relative had a history of migraine. There were no significant differences between migraine sub-groups with and without family migraine history in age (P=0.598), gender(P=0.675), disease duration (P=0.419), aura (P=0.669), headache severity (P=0.837), frequency of attack (P=0.465), concomitant symptoms (P=0.081), headache location (P=0.353), headache property (P=0.963), there were significant differences between migraine subgroups with and without family migraine history in age at disease onset (P=0.023), duration of headache attack (P=0.041), early age (<16 years)at disease onset (48.6% vs. 22.9%, P=0.023) and long duration (≥24 hours)of attack (35.1% vs. 14.3%, P=0.041). Multi-variables logistic regression analysis identified fist-degree relatives of probands who had ear-ly age at disease onset (OR=2.986, 95%CI:1.621~5.503) and long duration of headache attack (OR=2.320, 95%CI:1.219~4.415) had higher risk of migraine (P<0.05). Conclusion Migraineurs with family migraine history have earlier onset of migraine and longer duration of attack. Early age at headache onset and long duration of headache attack are the risk factors of family aggregation.

Agregación famiiiar para diabetes mellitus tipo2, hipertensión arterial y obessidad en residentes de gran altura con síndrome metabólico de el alto y La Paz - Boliiaa / Family agregatioon for diabetes mellitus, hypertesion artrial and obesitty in residents of high altitude with metabolic síndrome of La Paz and el alto - Boliiaa

Introducción. El síndrome metabólico (SM) es de causa multifactorial (definida en una interacción genético-ambiental). Se compone por cifras elevadas de presión arterial, alteraciones del perfil lipídico, obesidad y alteraciones en el metabolismo de los carbohidratos. La agregación familiar (AF) es un indicador estadístico para rasgos cualitativos de etiología multifactorial que orienta hacia la predisposición y/o riesgo de recurrencia de una entidad en familiares de un caso índice. Se ha descrito para la Diabetes Mellitus tipo 2 una frecuencia en familiares de afectados del 10-30%(2), para la Hipertensión arterial una frecuencia de 8-28% de afectados con 1 familiar de 1er grado hipertenso(2,3). En el caso de la Obesidad la probabilidad de que un individuo sea obeso teniendo 2 familiares de primer grado afectados es del 40%(3). Objetivos. Determinar la interacción genético ambiental en la etiología de la diabetes mellitus tipo 2, hipertensión arterial y obesidad en familiares de casos con estos diagnósticos en población residente de gran altura en la ciudad de El Alto y La Paz. Metodología. Diseños híbridos de conglomerados familiares. Los datos fueron tomados del proyecto "Factores de riesgo asociados a síndrome metabólico en población residente de El Alto y La Paz 2009-2010"(1), incluyendo en este estudio aquellas familias con dos o más familiares con DM2, HTA u Obesidad. Resultados. De un total de 248 casos con SM se encontraron 47 genealogías informativas. Los resultados demuestran un incremento de riesgo de padecer estas enfermedades en presencia de uno o más familiares afectados en comparación con la población general. Discusión y Conclusiones. La presencia de AF en estas tres entidades en evidente. Llama la atención que las frecuencias incrementan al analizar sólo familiares de 1er grado (dejando de lado 2do y 3er grado), este dato es indicativo del aporte genético en la etiología de las patologías citadas y refuerza su etiología ambiental al sugerir que los familiares de 1er grado co-habitan un mismo entorno y comparten las mismas costumbres alimenticias y actitudes. Estos datos confirman la interacción genético ambiental que define la etiología multifactorial de las patología estudiadas.

Introduction. The metabolic syndrome (MA) has multifactorial etiology (defined by a gene-environment interaction). It consists of high levels of blood pressure, lipid disorders, obesity and alterations in carbohydrate metabolism. Familial aggregation (FA) is a statistical indicator for qualitative traits with multifactorial etiology and guides to predisposition and / or recurrence risk of an entity in relatives of an index case. A 10-30% frequency for Type 2 Diabetes Mellitus in affected relatives has described (2), A 8-28% frequency for Hypertension in first grade relatives affected family hypertension (2.3) . In obesity case the probability that an individual becomes obese having 2 first-degree relatives is about 40% (3). Objectives. Determine environmental genetic interaction in the etiology of type 2 diabetes mellitus, hypertension and obesity in relatives of patients with these diagnoses in resident population of the city of El Alto and La Paz. Methodology. We used the methodology of hybrid family conglomerates designs. The data were taken from the project "Risk factors associated with metabolic syndrome in residents of El Alto and La Paz 2009-2010"(1), including those families with two or more relatives with T2DM, hypertension or obesity. Results. Of a total of 248 cases with SM were found 47 informative pedigrees. The results show an increased risk for these diseases in the presence of one or more affected relatives compared with the general population. Discussion and conclusions. The presence of FA in these three entities is evident. Noteworthy that the frequencies increase when analyzing only 1st degree relatives (excluding 2nd and 3rd grade), this data is indicative for the genetic contribution in the etiology of the mentioned diseases and reinforces the complex etiology by suggesting that relatives of 1st degree co-inhabit the same environment and share the same eating habits and attitudes. These data confirm the genetic environmental interaction defining the multifactorial etiology of the disease studied.

Familial aggregation of cluster headache / Agregacao familiar da cefaleia em salvas

Several studies suggest a strong familial aggregation for cluster headache (CH), but so far none of them have included subjects with probable cluster headache (PCH) in accordance with the International Classification of Headache Disorders. Objective To identify cases of probable cluster headache and to assess the familial aggregation of cluster headache by including these subjects. Method Thirty-six patients attending a headache consultation and diagnosed with trigeminal autonomic headaches were subjected to a questionnaire-based interview. A telephone interview was also applied to all the relatives who were pointed out as possibly affected as well as to some of the remaining relatives. Results Twenty-four probands fulfilled the criteria for CH or PCH; they had 142 first-degree relatives, of whom five were found to have CH or PCH, including one case of CH sine headache. The risk for first-degree relatives was observed to be increased by 35- to 46-fold. Conclusion Our results suggest a familial aggregation of cluster headache in the Portuguese population. .

Diversos artigos sugerem uma significativa agregação familiar da cefaleia em salvas (CH) embora nenhum tenha incluído indivíduos com provável cefaleia em salvas (PCH), segundo critérios da Classificação Internacional de Cefaleias (ICHD-II). Objetivo Encontrar casos de provável cefaleia em salvas e avaliar a agregação familiar da cefaleia em salvas incluindo também esses indivíduos. Método Foi aplicado um questionário por telefone a 36 doentes que frequentaram uma Consulta de Cefaleias com diagnóstico de cefaleia trigémino-autonómica. Todos os familiares de primeiro grau referidos como possivelmente afetados e alguns dos restantes foram entrevistados por telefone. Resultados Em 24 doentes foi diagnosticada CH ou PCH e estes tinham 142 familiares de primeiro grau, cinco dos quais foram diagnosticados como CH ou PCH, incluindo um caso de CH sem cefaleias. O risco para familiares de primeiro grau foi 35-46 vezes superior ao da população geral. Conclusão Nossos resultados sugerem a existência de uma agregação familiar da cefaleia em salvas na população portuguesa. .

Factores de riesgo genéticos y no genéticos asociados con la esquizofrenia / Genetic and Nongenetic Risk Factors Associated with Schizophrenia

Introducción: la esquizofrenia se encuentra entre las enfermedades psiquiátricas más severas, su prevalencia media en la población adulta con independencia de la raza o el país de origen se sitúa en torno al 1%. El municipio de Holguín presenta un número importante de pacientes. Objetivo: determinar si existe agregación de la enfermedad al identificar la contribución de factores genéticos y describir el comportamiento de factores ambientales: antecedentes prenatales y perinatales, el nivel socio-económico y el funcionamiento familiar, asociados con la esquizofrenia. Métodos: se realizó un estudio de 30 casos y 60 controles para determinar si existe agregación familiar en la esquizofrenia. El universo de estudio estuvo constituido por el total de individuos en el área de salud con el diagnóstico de esquizofrenia y antecedentes patológicos familiares de esta enfermedad. La información se recogió por medio de la entrevista. Resultados: se evidenció que existe agregación familiar de la enfermedad en las familias estudiadas; los familiares de primer grado constituyeron los más afectados. Predominó el antecedente de desnutrición materna (22 casos para el 50,0% y 26 controles para el 38,2%) así como, el bajo peso al nacer (con 17 casos para el 30,8% y 18 para el 26,4% en los controles), que es significativo. El nivel socio-económico no fue significativo. Se demostró una fuerte asociación entre este factor de riesgo y la enfermedad en las familias disfuncionales que fueron las más frecuentes (19 en los casos para el 63,3%). Conclusiones: la contribución de los factores genéticos fue determinante al predominar en las familias de primer grado afectadas, también es importante la influencia de los factores no genéticos y todo ello demuestra la necesidad de crear estrategias dirigidas al asesoramiento de las familias en riesgo de padecer esta enfermedad.

Introduction: Schizophrenia is among the most severe psychiatric disorders, the mean disease prevalence in the adult population is around 1%, without considering the race or country of study. The municipality of Holguín reports a significant number of patients. Objective: to determine whether aggregation of the disease when identifying the genetic factors as well as to describe the behavior of environmental factors (prenatal and perinatal history, socio-economic level and family functioning) associated with schizophrenia. Methods: an analytical study of 30 cases and 60 control patients to determine whether familial aggregation for schizophrenia. The study group consisted of the total number of individuals in the health area with a diagnosis of schizophrenia and pathological family history of this disease. The information was collected through an interview. Results: the results showed that there was familial aggregation of the disease in the studied families, the first-degree relatives were the most affected ones. There was a predominance of maternal malnutrition history (22 cases for 50.0% and 26 controls for 38.2%) and the low birth weight with 17 cases for 30.8% and 18 of them for 26.4% in). The socioeconomic level was not significant. The results showed the strong association between this risk factor and the disease in dysfunctional families (19 cases to 63.3%). Conclusiones: the genetic factors was determinant and nongenetic factors showed the need for strategies aimed at counseling families at risk for this disease.

Clinical evaluation of laser efficacy on familial aggregation hemangioma / 中华医学美学美容杂志

Objective To investigate the distribution characteristics and clinical features of familial aggregation hemangioma to improve the level of the diagnosis and treatment.Methods Total 1202 cases of vascular disease were treated in this department from June 2006 to June 2011.The clinical data and family distribution characteristics in 36 cases of familial aggregation hemangioma were analyzed and their effects of laser treatment were evaluated.Results 36 cases were familial aggregation hemangioma,whose incidence was 2.99 ％ in 1202 cases of vascular disease cutis; and the ratio of male to female was 1 ∶ 1.There were 9 cases of parents suffering from hemangioma.But the incidenceof the next generation suffering from vascular disease was 28.5 ％.Among these 36 cases of familial aggregation hemangioma,33 cases underwent the long pulse 1064 nm Nd ∶ YAG laser and optimized pulse light combination therapy.The effective rate was 100 ％.Conclusions There may be a genetic predisposition in hemangioma.The application of long pulse 1064 nm Nd ∶ YAG laser and optimized pulsed light treatment to hemangioma cutis can obtain satisfactory results.The intervention should be taken in early stage.

Exploration of the relationship between the expression level of Th1/Th2 cytokines and the familial aggregation of the hepatocellular carcinoma / 中华微生物学和免疫学杂志

Objective To investigate the effect of Th1/Th2 cytokines and immune state on the occurrence and familial aggregation of hepatocellular carcinoma(HCC).Methods Ninety-five members whose families have had two or even more HCC patients(high-occurrence families) were selected as the case group,by matching with the same nationality,gender,residential area,age±5 years old,95 members whose families had no any cancer were selected as the control.The level of peripheral blood Th1 type cytokines such as interferon-γ(IFN-γ),interleukin-2(IL-2) and Th2 type cytokines such as interleukin-4(IL-4),interleukin-10 (IL-10) were detected by enzyme linked immunosorbent assay(ELISA).Results There was a Th1/Th2 serum cytokine imbalance profile in members of HCC high-occurrence family.The levels of IFN-γ and IL-2 were significantly lower in members of HCC high-occurrence family than that of the controls.The levels of IL-4 and IL-10 were higher in members of HCC high-occurrence family than that of the controls.Conclusion There was a poor cellular immune state in members of HCC in the high-occurrence families.Th1 type cytokines was inhibited,and Th2 type cytokines was enhanced,so more susceptible to HBV chronic infection.It might be the mechanism of HCC occurrence and familial aggregation.

Agregação familiar na adiposidade do tronco: um estudo em famílias nucleares portuguesas / Familial aggregation on trunkal fat: a study with Portuguese families

Este estudo teve como objetivos: 1) identificar a presença indireta de transmissão vertical de fatores genéticos entre progenitores e descendentes em dois fenótipos da adiposidade do tronco (AT); 2) estimar a contribuição dos fatores genéticos e ambientais responsáveis pela variabilidade fenotípica da adiposidade do tronco relativa (ATrel) e absoluta (ATabs) em termos populacionais. A amostra foi constituída por 422 indivíduos pertencentes a 107 famílias nucleares portuguesas. Os fenótipos da AT foram avaliados com um aparelho de BIA da marca Tanita® modelo BC- 418MA. A estrutura familiar e a análise do comportamento genérico das variáveis entre diferentes membros familiares foram realizadas no "software" PEDSTATS. Para calcular a correlação entre familiares foi utilizado o módulo FCOR do "software" de Epidemiologia Genética S.A.G.E 5.3. As estimativas de heritabilidade (h²) foram realizadas através do método de verossimilhança implementado no "software" SOLAR. Os valores dos coeficientes de correlação entre os diferentes graus de parentesco foram baixos a moderados para ATrel (0,205 < r < 0,738) e ATabs (0,199 < r < 0,782). Os fatores genéticos explicaram 50 e 47 por cento da variação dos fenótipos da ATrel e ATabs, respectivamente. Esses resultados: 1) indicam uma forte agregação familiar na AT de famílias nucleares portuguesas; 2) contribuem para estudos avançados de Epidemiologia Genética e 3) ressaltam a necessidade da implementação de intervenções físicas e nutricionais direcionadas a toda família.

The aims of this study was to 1) identify the presence of indirect transmission of genetic factors between parents and children in two phenotypes of trunk fat, and 2) estimate the contribution of genetic and environmental factors responsible for phenotypic variation on relative trunk fat and absolute trunk fat. The sample consisted of 422 individuals from 107 Portuguese nuclear families. Trunk fat phenotypes were measured with a bioelectric impedance device Tanita ® model BC-418MA. Family structure and analysis of the generic behavior of the variables between different family members were verified in PEDSTATS software. Familiar correlations were computed in the FCOR module of SAGE 5.3 software. Heritability estimates (h²) were performed using the likelihood method implemented in SOLAR software. Correlation coefficients between relatives were low to moderate on relative trunk fat (0.205 < r < 0.738) and absolute trunk fat (0.199 < r < 0.782). Genetic factors explained 50 and 47 percent of the variation in phenotypes of relative and absolute trunk fat, respectively. These results 1) indicate a strong familial aggregation on trunk fat of Portuguese nuclear families, 2) contribute to advanced studies in Genetic Epidemiology 3) and emphasize the need for physical and nutritional interventions directed to all family members.

Agregação familiar nos níveis de atividade física: um resumo do estado da arte / Familial aggregation in physical activity levels: a brief summary of the state of the art

Objetivo: Rever o estado atual do conhecimento sobre os efeitos genéticos na variabilidade dos níveis de atividade física, a partir de uma análise centrada em estudos agregação familiar, com base na Genética Quantitativa. Métodos: Realizou-se uma busca nas bases de dados Pubmed e Scopus, incluindo os estudos com base em delineamentos com famílias nucleares e/ou pedigrees extensos e estimativas de heritabilidade. Tais pesquisas deveriam apresentar questionários, acelerômetros e pedômetros como técnicas de avaliação dos níveis de atividade física, e a publicação deveria estar em formato de artigo ou relatório de pesquisa. Resultados: Presença de grande variabilidade inter e intra fenótipos sugerindo que os fatores genéticos são responsáveis por 6 a 62% da variação total dos níveis de atividade física, em muitos casos, com forte presença do envolvimento ambiental comum, partilhado pela família. A discrepância dos resultados pode ser condicionada por diferentes aspectos estruturais de cada pesquisa, bem como pela variabilidade dos instrumentos utilizados, dos fenótipos avaliados e das populações envolvidas. Conclusões: Os fenótipos da atividade física são complexos, de natureza poligênica e multifatorial. Os fatores genéticos são responsáveis por efeitos reduzidos a moderados da variabilidade desses fenótipos. Os dados relatados são significativos e constituem a base genética, ainda pouco explorada, para o desenvolvimento de pesquisas em Genética Molecular. Dessa forma, estabelecem um suporte relevante na definição de investigações e intervenções futuras no território da Epidemiologia Genética aplicada à atividade física.

Purpose: To present an up-to-date summary about genetic influences in physical activity (PA) variability based on familial aggregation studies within the realm of Quantitative Genetics. Methods: Pubmed and Scopus databases were searched for published papers and reports on nuclear families and/or extensive pedigrees where heritability estimates were computed, and PA levels were assessed by means of questionnaires, accelerometers and pedometers. Results: Wide variability between and within phenotypes suggesting that 6 to 62% of PA?s total variation was due to genetic factors as well as common environment shared by family members. Different structural aspects related to design of each study, as well as different methods for phenotypic assessment and sample may explain the many differences among results. Conclusion: PA phenotypes are complex, polygenic and multifactorial in their nature. Genetic factors are responsible for reduced-to-moderate phenotype variability. This data is relevant and is the genetic basis, still underexplored, for the development of Molecular Genetics research. In addition, future studies and interventions within the realm of Genetic Epidemiology applied to PA should start from this set of highly relevant information

A Case of Ulcerative Colitis Found in a Patient Whose Parent has Crohn's Disease / 대한소화기학회지

Inflammatory bowel diseases (IBD) is heterogeneous, chronic relapsing disorder. Inappropriate and exaggerated immune response for the luminal antigen is known as a main pathogenesis. Genetic, infectious, and environmental factors are responsible for unbalanced immune response, but the definite pathogenesis is still unclear. Genetic factor is the most important role of all. That is based on high concordance rate of identical twins and family history. The incident rate and prevalence of IBD for the Asian population is relatively lower than Western population, and the lack of NOD2 or TLR4 genetic polymorphisms in Korea and Japanese population suggests the difference in genetic background between Asian and Western population. In Korea, the case of familial aggregation of IBD is pretty rare. We report a case of the daughter with ulcerative colitis and her mother with Crohn's disease who have a -159C/T promoter polymorphism of CD14 gene for IBD.

A Case of Ulcerative Colitis Found in a Patient Whose Parent has Crohn's Disease / 대한소화기학회지

Inflammatory bowel diseases (IBD) is heterogeneous, chronic relapsing disorder. Inappropriate and exaggerated immune response for the luminal antigen is known as a main pathogenesis. Genetic, infectious, and environmental factors are responsible for unbalanced immune response, but the definite pathogenesis is still unclear. Genetic factor is the most important role of all. That is based on high concordance rate of identical twins and family history. The incident rate and prevalence of IBD for the Asian population is relatively lower than Western population, and the lack of NOD2 or TLR4 genetic polymorphisms in Korea and Japanese population suggests the difference in genetic background between Asian and Western population. In Korea, the case of familial aggregation of IBD is pretty rare. We report a case of the daughter with ulcerative colitis and her mother with Crohn's disease who have a -159C/T promoter polymorphism of CD14 gene for IBD.

Familial aggregation of metabolic syndrome in adolescents with paternal metabolic syndrome / 中华流行病学杂志

Objective To analyze the impact of parental Metabolic Syndrome(MS)on adolescents,and to explore the familial aggregation of MS with its components.Methods Using a 1:3 case-control familial study design to choose 26 MS male patients as proband and 78 healthy men as controls.Data regarding phenotype of their adolescence offspring were collected.Height,weight,waist circumference(WC),blood pressure,body mass index(BMI),waist-to-hip ratio(WHR)and waist-to-height ratio(WHtR)were measured or calculated.FPG,TC,TG,HDL-C and LDL-C were detected by automatic biochemical analyzer and hs-CRP was detected.Results WC,WHtR,WHR,DBP and hs-CRP of those adolescents with paternal MS were significantly higher than in controls(P＜0.05).Rates of MS,Obesity depend WC,low level of HDL-C of adolescent with paternal MS were significantly higher than in controls(P＜0.05).The rate of number on MS was significantly higher in case group than in control(r=0.231,P＜0.05).Conclusion The phenotypes of MS were different between adolescents with or without parental MS,indicating that the familial aggregation of MS had been existed in their adolescent offspring,and mainly presented in central obesity,increased blood pressure and inflammation.

Familial Aggregation of Vibrio cholerae-associated Infection in Matlab, Bangladesh.

Vibrio cholerae is a major cause of diarrhoeal illness in endemic regions, such as Bangladesh. Understanding the factors that determine an individual’s susceptibility to infection due to V. cholerae may lead to improved prevention and control strategies. Increasing evidence suggests that human genetic factors affect the severity of V. cholerae-associated infection. This study, therefore, sought to characterize the heritable component of susceptibility to infection due to V. cholerae using the Matlab Health and Demographic Surveillance System database of the International Centre for Diarrhoeal Disease Research, Bangladesh. In total, 144 pedigrees that included a cholera patient and 341 pedigrees without a cholera patient were evaluated during 1 January–31 December 1992. The odds of the sibling of a patient being admitted with cholera were 7.67 times the odds of the sibling of an unaffected individual being admitted with cholera [95% confidence interval (CI) 2.40-24.5, p<0.001], after adjustment for gender, age, socioeconomic status, and hygiene practices. Although exposure to environmental reservoirs is essential in the epidemiology of cholera, household-specific factors, such as familial relatedness to an index case, may also be important determinants of risk of cholera. Further analysis of human genetic factors that contribute to susceptibility to cholera may be productive.

Fatores genéticos e variabilidade na pressão arterial: uma breve revisão da literatura / Genetic factors and variability in blood pressure: a brief literature review

O objetivo desta revisão foi abordar aspectos relacionados a importância dos fatores genéticos na variabilidade dos valores da pressão arterial. Foi realizada uma pesquisa na base de dados Pubmed e selecionados (1) estudos de agregação familiar com estimativas de heritabilidade, (2) estudos de linkage apenas com resultados significativos e (3) estudosde associação entre hipertensão arterial, genes candidatos e seus variantes alélicos, com base em delineamento de caso-controle. As estimativas de heritabilidade para a pressão arterial sistólica e diastólica variaram entre 14-68% e 6-62%, respectivamente. Foi verificadoa presença de linkage para a pressão arterial sistólica nos cromossomas 2, 5, 6, 15 e 17. Os principais genes candidatos apresentaram resultados díspares na associação com a hipertensão. Conclui-se que a pressão arterial é um fenótipo poligênico, onde os fatores genéticos governam uma parte moderada a substancial da magnitude de sua variabilidadenas populações. Os genes candidatos identificados não explicam de modo suficientemente satisfatório a hipertensão arterial.

The main purpose of this review was to gather relevant information regarding the importance of genetic factors for the variability of blood pressure levels. A search was performed in the Pubmed database, and the following studies were selected: (1) studies reporting familial aggregation with heritability estimates, (2) linkage studies reporting only significant results, and (3) association studies between blood pressure, candidate genes and their allelic variants using a case-control design. Heritability estimates for systolic and diastolic blood pressure ranged from 14to 68% and from 6 to 62%, respectively. We found significant linkage results for systolic blood pressure on chromosomes 2, 5, 6, 15 and 17. Relevant candidate genes presented disparate results in terms of their association with arterial hypertension. Blood pressure is a polygenic phenotype whose variation is partially mediated by genetic factors. The candidate genes identified do not sufficiently explain arterial hypertension.

Parent-offspring Relationship and Familial Aggregation of Obesity-Related Phenotype and Nutrition Intake in Adolescents Family in Urban Area

BACKGROUND: Adolescent obesity has rapidly increased in recent years in South Korea due to westernized life style. Family is one of the most important factors to affect body weight in children through the interaction between genetic and environmental factors, whichs poorly understood in Korea. The aim of this study was to investigate the parent-offspring relationship and familial aggregation of obesity-related phenotypes and nutrient intake in Korean adolescent families. METHODS: A cross-sectional observation study was conducted in 134 biologic families including adolescents aged 11~19 years, parents, and siblings. Anthropometric measurements, height, weight, body mass index (BMI), waist & hip circumference, waist-to-hip ratio (WHR), and % body fat by BIA were measured. The nutrient intake was assessed by food frequency questionnaire (FFQ). Intraclass correlations for each variable between family members were calculated after adjustments to correct for the effect of age and sex. RESULTS: The risks for obesity in offsprings increased according to parental obesity. Mothers rather than fathers, and daughters rather than sons had higher significant intrafamilial correlations for almost all of anthropometric variables, and nutrient intake. For height, fathers had higher significant correlations with offspring. However, for total fatness and fat distribution, mothers had higher significant correlations with offspring. The significant correlations for anthropometric variables and nutrition intake existed between the spouses and all offsprings. CONCLUSION: Korean adolescents exhibited significant parent-offspring relationship and familial aggregation for obesity-related phenotypes and nutrient intake. Understanding the relative contributions of shared genes and environmental factors to the familial relationship and aggregation could give insights into the origins of adolescence obesity in the high risk group of family.

Intrafamilial Clustering Of HbsAg and HBV DNA Among The Families Of Carriers.

To find out the clustering of HBV carriers within a family, 50 HBsAg carriers were studied. The distribution of HBsAg was found to be high (33%) among the offspring of HBsAg negative father and positive mother when compared to positive father and negative mother (16%) or where both the parents were HBsAg negative (31%0. The frequency of HBV DNA was also found to be high among the offspring of HBV DNA negative father and HBV DNA positive mother (25%). Male infection leading to a clustering of HBsAg carrier families.

Familial Aggregation of Blood Pressure

To examine the familial aggregation of blood pressure, household interviews and health examination surveys were conducted from July 9 to August 18, 1986 on 469 families with first grade children who attended primary schools in Kangwha County. Blood pressure, height, weight, pulse rate and the arm circumference of 1972 family members from three generations were measured, followed by an interview concerning preference for salty foods and any prescribed hypertensive drugs. Based on the binomial goodness-of-fit test and analysis of variance, familial aggregation of blood pressure was identified. The genetic component of blood pressure was estimated to be approximately 22.3% of the total variance in systolic blood pressure and 21.4% in diastolic blood pressure by using a mixed model two way ANOVA. Significant correlations were found in systolic and diastolic blood pressures among almost all family members. Correlations of blood pressure between siblings were higher in families with hypertensive parents than with normotensive parents. A shared environment and the degree of sharing also influenced blood pressure. There is a need of a follow-up study on children's blood pressure since the familial aggregation varied with the age of the children.