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Swedish Families (swedish + family)
Selected AbstractsHuman ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patientsEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 1 2001Carina Kärrman Mårdh A gene encoding the enamel protein ameloblastin (AMBN) was recently localized to a region on chromosome 4q21 containing a gene for the inherited enamel defect local hypoplastic amelogenesis imperfecta (AIH2). Ameloblastin protein is located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel, and the AMBN gene therefore represents a viable candidate gene for local hypoplastic amelogenesis imperfecta (AI). In this study, the genomic organization of human AMBN was characterized. The gene was shown to consist of 13 exons and 12 introns. An alternatively spliced 45 bp sequence was shown not to represent a separate exon and is most likely spliced by the use of a cryptic splice site. The finding that there were no recombinations between an intragenic microsatellite and AIH2 encouraged us to evaluate this gene's potential role as a candidate gene for local hypoplastic AI. Mutation screening was performed on all 13 exons in 20 families and 8 sporadic cases with 6 different forms of AI. DNA variants were found but none that was associated exclusively with local hypoplastic AI or any of the other variants of AI in the identified Swedish families. This study excludes the coding regions and the splice sites of AMBN from a causative role in the pathogenesis of AIH2. [source] Influence of macrostructure of society on the life situation of families with a child with intellectual disability: Sweden as an exampleJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 4-5 2003M. B. Olsson Abstract Background Most studies on families with children with intellectual disability (ID) have been carried out in the UK or the USA, and are influenced by the societal organization, and political and economic climate of those countries. In the USA and the UK, the care and well-being of children, with or without ID, are seen almost exclusively as the individual family's responsibility. In Sweden, the care and well-being of children are seen more as a joint responsibility. Swedish society has developed many privileges for all parents in order to help them care for their children, and the support for parents of children with disabilities is provided exclusively by the Government and the community. The overall question explored in this descriptive, quantitative and qualitative study was: Are families in Sweden experiencing the stressors and life situations described in the studies of parents in more individualistic societies? Methods Two hundred and twenty-six families with children with ID and 234 control families with children ranging from 0 to 16 years of age answered mail surveys. Results Taken together, parents in Sweden describe most of the stressors proposed in the international literature with the exception of financial strain. Restricted social life and time restrictions seem to be the two most evident and bothersome stressors for Swedish families with children who have ID. Conclusions As in previous research, the parents of children with ID and autism experienced more stressors and restrictions in their lives than the parents of children with DS and control families. [source] Analysis of the macrophage scavenger receptor 1 gene in Swedish hereditary and sporadic prostate cancerTHE PROSTATE, Issue 2 2004Fredrik Lindmark Abstract BACKGROUND The macrophage scavenger receptor 1 (MSR1) gene on chromosome 8p22 was recently reported as a candidate gene for hereditary prostate cancer (HPC). Here, we further elucidate the role of MSR1 in both Swedish families with HPC and in a cohort of unselected prostate cancer. METHODS DNA samples from 83 Swedish HPC families and 215 unselected population based cases of prostate cancer as well as 425 age-matched controls were genotyped. RESULTS A total of 18 variants were identified, including 2 exonic, 7 intronic changes, and 9 changes in the 5,- or 3,-uncoding region. Of the two exonic changes, one previously reported truncation mutation was identified, a R293X nonsense mutation. This mutation was found in 2 of the 83 (2.4%) HPC families. The R293X mutation was found more frequently in men with PC (4.9%) than in unaffected men (2.7%), consistent with previous published results, however our results were not significant (P,=,0.16). To additionally test for potential association of common sequence variants and increased risk for the disease, five common polymorphisms (PRO3, INDEL1, IVS5-57, P275A, INDEL7) were genotyped in the group of 215 prostate cancer cases and 425 age-matched controls. No association between any of the five common sequence variants and prostate cancer were found. CONCLUSION Our results suggest that mutations in MSR1 gene might play a role in prostate cancer susceptibility, particularly the R293X mutation. This study warrants further investigations of the role of MSR1 in prostate cancer etiology. © 2004 Wiley-Liss, Inc. [source] Familial associations of rheumatoid arthritis with autoimmune diseases and related conditionsARTHRITIS & RHEUMATISM, Issue 3 2009Kari Hemminki Objective In the era of genome-wide association studies, familial risks are used to estimate disease heritability and the likelihood of candidate-gene identification. This study was undertaken to estimate associations of rheumatoid arthritis (RA) with any of 33 autoimmune diseases and related conditions among parents and offspring, singleton siblings, twins, and spouses. Methods The Multigeneration Register in Sweden was used as a reliable source of information on Swedish families throughout the last century. Data on autoimmune diseases in individual family members were obtained through linkage to the Hospital Discharge Register. The standardized incidence ratio (SIR) was calculated as a measure of the relative risk of RA in family members of patients with RA or any of 33 other autoimmune diseases or related conditions, as compared with the relative risk of RA in those lacking an affected family member. Results Among a total of 447,704 patients, 47,361 were diagnosed as having RA. The SIRs for RA were 3.02 in offspring of affected parents, 4.64 in siblings, 9.31 in multiplex families, 6.48 in twins, and 1.17 in spouses. Significant associations with the familial risk of RA in offspring according to parental proband were observed for ankylosing spondylitis (SIR 2.96), localized scleroderma (SIR 2.40), Sjögren's syndrome (SIR 2.25), systemic lupus erythematosus (SIR 2.13), systemic sclerosis (SIR 1.65), Hashimoto thyroiditis/hypothyroidism (SIR 1.54), pernicious anemia (SIR 1.53), sarcoidosis (SIR 1.40), psoriasis (SIR 1.36), Wegener's granulomatosis (SIR 1.34), and asthma or polymyalgia rheumatica (SIR 1.32). Conclusion This is the first study to compare the familial risks of RA in relation to a large number of autoimmune diseases and related conditions using data from a single population. The high discordant familial risks in this population suggest that there is extensive genetic sharing between RA and the associated diseases. [source] 4131: Pathologic epithelial and anterior corneal nerve morphology in congenital aniridic keratopathyACTA OPHTHALMOLOGICA, Issue 2010P FAGERHOLM Purpose To document corneal morphology in Swedish families with congenital aniridia. Methods Detailed ophthalmic examinations were conducted in a number of affected and unaffected members. Digital slit lamp photography, anterior segment optical coherence tomography (ASOCT) and in-vivo confocal microscopy (IVCM) examinations were performed bilaterally to document corneal morphology. Results Affected family members presented with different stages of aniridic keratopathy, with a corneal appearance varying from totally transparent to opaque and highly vascularised. Increased corneal thickness in affected members, particularly those with severe keratopathy, was noted by ASOCT. By IVCM, opaque corneas were characterized by active vessels and dense inflammatory cell infiltration. In corneas with milder keratopathy, pathologic epithelial findings included epithelial pleomorphism, focal epithelial opacities, and an absence of limbal epithelial crypts and focal stromal projections at the limbus. Nerves of the anterior cornea exhibited several distinct features, including an unusually close association of subbasal nerves with epithelial cells, an unusually high subbasal nerve density with highly branched nerves, and a prominent whorl region. Additionally, abnormally dense and tortuous anterior stromal nerves, attached to stromal keratocytes, were noted in unaffected members. Conclusion Altered epithelial morphology and a vigorous innervation of the anterior cornea were the most pronounced corneal findings in family members with milder forms of aniridic keratopathy. Further findings confirmed the known increase in corneal thickness and limbal stem cell abnormality in aniridia. [source] | ||||||||||