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Familial Clustering (familial + clustering)
Selected AbstractsFamilial factors in diabetic nephropathy: an offspring studyDIABETIC MEDICINE, Issue 3 2006E. Agius Abstract Aims Familial clustering of diabetic nephropathy in patients with Type 2 diabetes suggests that inherited factors predispose to diabetic nephropathy, but the nature of these factors is uncertain. The aim of the study was to compare the prevalence of known risk factors for nephropathy in non-diabetic offspring of Type 2 diabetic patients with and without nephropathy and in control subjects. Methods Three groups of patients were recruited with 40 or 41 subjects in each group. These were subjects having one Type 2 diabetic parent with nephropathy (DN); subjects having one parent with Type 2 diabetes without nephropathy (DnoN), and non-diabetic unrelated control subjects with no personal or parental history of diabetes (Control subjects). Results The median (interquartile range) albumin/creatinine ratio (ACR) was 1.40 (0.96,2.90) mg/mmol in DN; 0.94 (0.50,1.46) mg/mmol in DnoN and 1.22 (0.66,1.83) mg/mmol in Controls (anova: P = 0.03). ACR was higher in group DN than in DnoN (P < 0.006) and in Control subjects (P < 0.03), but there was no difference between DnoN and Control subjects. Twenty-four-hour ambulatory blood pressure monitoring showed mean daytime systolic blood pressure to be significantly higher in group DN than in DnoN (P < 0.02) or Control subjects (P < 0.01) (anova: P = 0.004). Fasting insulin, HOMA-IR, interleukin-6 (IL-6) and C-reactive protein (CRP) were similar in the three groups. Conclusion Our data provide further evidence that genetic factors are important in determining urinary albumin excretion and renal disease associated with Type 2 diabetes and suggest that genes that affect systemic arterial blood pressure but not those relating to insulin resistance or inflammation are likely to be implicated. [source] Familial clustering of Crohn's disease in Israel: Prevalence and association with disease severityINFLAMMATORY BOWEL DISEASES, Issue 2 2009Shomron Ben-Horin MD Abstract Background: There is limited data addressing the severity of Crohn's disease (CD) in patients with a family history of inflammatory bowel disease (IBD) compared to sporadic cases. Methods: We investigated the familial occurrence of IBD and its correlation with disease behavior in CD patients attending the Israeli IBD Foundation meeting using a structured questionnaire. Results: The study group consisted of 181 CD patients with a total of 825 1st degree relatives. Positive family history for IBD in a 1st degree relative was reported in 30 patients (16%). Nine out of the 360 parents (2.5%) had IBD (4 CD, 5 UC). There were 17 siblings with IBD (15 CD, 2 UC) out of 351 (4.8%). Ten out of 114 (8.8%) offsprings had IBD (6 CD, 4 UC). When two siblings were affected, their respective age of disease onset was strikingly concordant (r = 0.76, p = 0.008). There was no difference between sporadic and familial CD patients in the age of disease onset, the location of disease, proportion of smokers or percentage of Ashkenazi origin. Furthermore, similar proportions of sporadic and familial patients underwent intestinal surgery, had penetrating or obstructive complications or were treated by immunomodulators and/or biologics. There was also no difference in the reported percentage of time with active disease or the number of flare-ups. Conclusions: The prevalence of familial disease among Jewish CD patients in Israel is at the high range of the rate found in other ethnicities. Having a positive family history of IBD has no impact on the severity of the disease. (Inflamm Bowel Dis 2008) [source] Familial clustering of cancer at human papillomavirus-associated sites according to the Swedish Family-Cancer DatabaseINTERNATIONAL JOURNAL OF CANCER, Issue 8 2008Shehnaz K. Hussain Abstract Familial aggregation of cervical cancer has been demonstrated previously, however aggregation of other human papillomavirus-associated anogenital, upper aerodigestive tract and skin cancers has not been fully characterized. The Swedish Family-Cancer Database, which contains reliable data on cancer incidence and nuclear family linkages for all residents of Sweden between 1958 and 2004, was used to calculate standardized incidence ratios (SIR) and 95% confidence intervals for offspring site-specific cancer risks according to site-specific cancer in sibling and parental probands. Offspring cancer risk was significantly increased when either a sibling or parent was affected at the same site for penile squamous cell carcinoma (SCC, SIR = 7.54), cervical adenocarcinoma (AC, SIR = 2.31), vulvar SCC (SIR = 2.27), skin SCC (SIR = 2.14), rectal AC (SIR = 1.86), in situ cervical SCC (SIR = 1.80), invasive cervical SCC (SIR = 1.77) and upper aerodigestive tract SCC (SIR = 1.57). Significant aggregation on the order of 2-fold between anogenital cancers at different sites or histologies was also observed. In situ cervical SCC risk in offspring was strongly influenced by siblings affected with oropharyngeal SCC (SIR = 3.17) and tonsillar SCC (SIR = 1.84). Familial skin SCC was largely unassociated with anogenital or upper aerodigestive tract cancer risk in offspring. These data suggest that common host factors exist among individuals affected with anogenital and upper aerodigestive tract cancers. © 2007 Wiley-Liss, Inc. [source] Familial clustering of abdominal aortic aneurysm,smoke signals, but no culprit genesBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 10 2003J. T. PowellArticle first published online: 22 SEP 200 Even after 20 years of work [source] Evidence for a familial correlation between increased reactivity to stress and positive psychotic symptomsACTA PSYCHIATRICA SCANDINAVICA, Issue 5 2010T. Lataster Lataster T, Collip D, Lardinois M, van Os J, Myin-Germeys I. Evidence for a familial correlation between increased reactivity to stress and positive psychotic symptoms. Objective:, This study tested the hypothesis that stress-reactivity may represent an intermediary phenotype underlying positive psychotic symptoms. It was examined whether: (i) stress-reactivity clusters within families of psychotic patients and (ii) stress-reactivity in relatives cosegregates with positive symptoms in patients. Method:, The sample consisted of 40 patients and 47 siblings of these patients. The Experience Sampling Method (ESM , a structured diary technique) was used to measure stress-reactivity. Positive symptoms in patients were measured with the Comprehensive Assessment of Symptoms and History. Results:, Within-trait, cross-sib associations showed a significant association between stress-reactivity in the patient and stress-reactivity in their siblings. Significant cross-trait, cross-sib associations were established showing a significant association between positive psychotic symptoms in the patient and stress-reactivity in the sibling. Conclusion:, The findings show familial clustering of increased stress-reactivity, suggesting common aetiological influences, probably both genetic and environmental, underlying stress-reactivity in the siblings and patients. In addition, the results underscore the hypothesis that increased stress-reactivity is an unconfounded mechanism of risk underlying the positive symptoms of psychotic disorders. [source] Autosomal Dominant Early-onset Cortical Myoclonus, Photic-induced Myoclonus, and Epilepsy in a Large PedigreeEPILEPSIA, Issue 10 2006Elena Gardella Summary:,Purpose: Cortical tremor, a form of rhythmic cortical myoclonus (rhythmic CM), and epilepsy have been described in families with autosomal dominant inheritance. Linkage analyses revealed two putative loci on chromosome 2p and 8q. Clinical photosensitivity was not a prominent feature in such families. We describe a large Italian family with rhythmic CM, photosensitivity, and epilepsy. Methods: Twenty-three individuals of a five-generation family were studied. Linkage analyses for the loci on chromosome 2p11.1 and 8q23.3 were performed. Results: Of the 23 studied family members, 16 were affected. Rhythmic CM of childhood onset was present in all 16 individuals (onset ranging from 3 to 12 years), was associated with photic-induced myoclonic jerks in seven, and with epileptic seizures in six (onset ranging from 23 to 34 years). Five children of the V generation manifested also episodes of arousal with generalized tremor in early infancy ("tremulous arousals"). Jerk-locked back-averaging of rhythmic CM of six affected individuals, documented a premyoclonic EEG correlate. C-reflex at rest was present in two affected adults. Linkage analyses excluded mapping to the 2p11.1 and 8q23.3 loci. Conclusions: Clinical variability and severity of the phenotypes in this family are in line with those of previously described pedigrees with autosomal dominant cortical myoclonus and epilepsy. In this family, a progression of symptoms was found: rhythmic CM and tremulous arousals occurred in childhood, whereas visually induced manifestations and epileptic seizures occurred during adolescence,adulthood. Exclusion of linkage to the two known loci is consistent with genetic heterogeneity of such familial clustering of symptoms. [source] Sex-specific familial risks of urinary bladder cancer and associated neoplasms in SwedenINTERNATIONAL JOURNAL OF CANCER, Issue 9 2009Justo Lorenzo Bermejo Abstract Male gender and a family history of cancer are established risk factors for urinary bladder neoplasms. This study used the latest update of the Swedish Family-Cancer Database, which includes 42,255 bladder cancer patients, to investigate the sex-specific incidences and types of tumors in relatives of bladder cancer patients. Men with parents or siblings affected by lung cancer did not show an increased risk of bladder neoplasms. Among women, the familial association was restricted to daughters of women with lung cancer. Brothers showed higher risks than the sons of bladder cancer patients. Men older than 54 years were at an increased risk of bladder cancer only if their fathers or siblings were diagnosed after age 65 years. The present data indicated a limited contribution of smoking to the familial clustering of bladder cancer with other neoplasms. The dependence of the relative risks on the type of familial relationship probably reflected a heterogeneous character of familial aggregation. Age-specific results suggested differential risk factors for tumors diagnosed before 50 years of age versus neoplasms detected later in life. The present data may guide the design of forthcoming gene identification studies and the interpretation of the genome-wide association studies that are about to be published. © 2008 Wiley-Liss, Inc. [source] Multiple myeloma: A review of the epidemiologic literatureINTERNATIONAL JOURNAL OF CANCER, Issue S12 2007Dominik D. Alexander Abstract Multiple myeloma, a neoplasm of plasma cells, accounts for ,,15% of lymphatohematopoietic cancers (LHC) and 2% of all cancers in the US. Incidence rates increase with age, particularly after age 40, and are higher in men, particularly African American men. The etiology is unknown with no established lifestyle, occupational or environmental risk factors. Although several factors have been implicated as potentially etiologic, findings are inconsistent. We reviewed epidemiologic studies that evaluated lifestyle, dietary, occupational and environmental factors; immune function, family history and genetic factors; and the hypothesized precursor, monoclonal gammopathies of undetermined significance (MGUS). Because multiple myeloma is an uncommon disease, etiologic assessments can be difficult because of small numbers of cases in occupational cohort studies, and few subjects reporting exposure to specific agents in case,control studies. Elevated risks have been reported consistently among persons with a positive family history of LHC. A few studies have reported a relationship between obesity and multiple myeloma, and this may be a promising area of research. Factors underlying higher incidence rates of multiple myeloma in African Americans are not understood. The progression from MGUS to multiple myeloma has been reported in several studies; however, there are no established risk factors for MGUS. To improve our understanding of the causes of multiple myeloma, future research efforts should seek the causes of MGUS. More research is also needed on the genetic factors of multiple myeloma, given the strong familial clustering of the disease. © 2007 Wiley-Liss, Inc. [source] Erythrocyte Lewis (A+B,) host phenotype is a factor with familial clustering for increased risk of Helicobacter pylori -related non-cardiac gastric cancerJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 6 2006MING-JEN SHEU Abstract Background:, The purpose of the present study was to test whether host erythrocyte Lewis phenotypes correlated with the risk of gastric cancers. Because of the association of gastric cancer with familial clustering, cancer relatives were investigated as to whether they had unique distribution of Lewis phenotypes. Methods:, The study prospectively enrolled 74 Helicobacter pylori -positive gastric cancer patients and 100 H. pylori -positive duodenal ulcer patients to serve as non-cancer controls after panendoscopy. In addition, 433 family members from the 74 index cancer and 100 non-cancer control patients were enrolled. All enrolled cases were checked for their H. pylori status and erythrocyte Lewis phenotypes, defined as Lea,b,, Lea,b+, Lea+b,, and Lea+b+ subtypes by the anti-Lea and anti-Leb monoclonal antibodies. Results:, These H. pylori -infected patients with gastric cancer had a higher rate of Lea+b, phenotype and a lower rate of Lea,b+ phenotype than the non-cancer duodenal ulcer controls (20.3% vs 9%; 51.4% vs 72%, P < 0.05). Among these H. pylori -infected patients, the risk of the patients with Lea+b, phenotype having gastric cancer was 3.15-fold higher as compared with those with the Lea,b+ phenotype (P = 0.02, 95% confidence interval: 1.26,7.87). The offspring and cousins of the cancer patients had a higher rate of Lea+b, phenotype as compared to either that of the spouses of cancer index patients or to that of the family members of the non-cancer control (P < 0.05). Conclusion:, Lea+b, phenotype of the H. pylori -infected host could be a risk factor (with familial clustering) for gastric carcinogenesis. [source] Genetics of atrioventricular conduction disease in humansTHE ANATOMICAL RECORD : ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY, Issue 2 2004D. Woodrow Benson Abstract Atrioventricular (AV) conduction disease (block) describes impairment of the electrical continuity between the atria and ventricles. Classification of AV block has utilized biophysical characteristics, usually the extent (first, second, or third degree) and site of block (above or below His bundle recording site). The genetic significance of this classification is unknown. In young patients, AV block may result from injury or be the major cardiac manifestation of neuromuscular disease. However, in some cases, AV block has unknown or idiopathic cause. In such cases, familial clustering has been noted and published pedigrees show autosomal dominant inheritance; associated heart disease is common (e.g., congenital heart malformation, cardiomyopathy). The latter finding is not surprising given the common origin of working myocytes and specialized conduction system elements. Using genetic models incorporating reduced penetrance (disease absence in some individuals with disease gene), variable expressivity (individuals with disease gene have different phenotypes), and genetic heterogeneity (similar phenotypes, different genetic cause), molecular genetic causes of AV block are being identified. Mutations identified in genes with diverse functions (transcription, excitability, and energy homeostasis) for the first time provide the means to assess risk and offer insight into the molecular basis of this important clinical condition previously defined only by biophysical characteristics. © 2004 Wiley-Liss, Inc. [source] Advances in the genetics of sarcoidosisCLINICAL GENETICS, Issue 5 2008G Smith Sarcoidosis is an uncommon disease of granulomatous inflammation. Genetic predisposition to sarcoidosis is indicated by observations of familial clustering, increased concordance in monozygotic twins over other siblings, and variations in susceptibility and disease presentation among different ethnic groups. Published studies on sarcoidosis have investigated a variety of genetic associations. These studies used techniques ranging from classic human lymphocyte antigen genotype correlations to genome-wide linkage scans. Results have both supported and refuted disease associations with a number of genes potentially involved in the pathogenesis of sarcoidosis. Here, we review representative studies concerning the genetics of sarcoidosis. While investigations to date have failed to identify a unifying genetic signature associated with sarcoidosis, numerous studies have identified genetic associations with disease subtypes or within specific populations. These studies suggest that genetic susceptibility to sarcoidosis is complex and polygenic in nature. Future studies will help clarify the genetics of sarcoidosis and allow for the development of diagnostic, prognostic and therapeutic technologies. [source] The importance of familial clusterings in Crohn's diseaseINFLAMMATORY BOWEL DISEASES, Issue 2 2001Dr. Herbert J. Van Kruiningen First page of article [source] | |||||||||||||