Human leukocyte antigen(HLA)-Cw6 has long been associated with psoriasis, and PSORS1 (psoriasis susceptibility 1), a major gene for psoriasis susceptibility, has been mapped to its vicinity. A previous analysis identi...Human leukocyte antigen(HLA)-Cw6 has long been associated with psoriasis, and PSORS1 (psoriasis susceptibility 1), a major gene for psoriasis susceptibility, has been mapped to its vicinity. A previous analysis identified multiple risk haplotypes carrying HLA-Cw6 and one haplotype (cluster 17, HLA-Cw8-B65) that appeared to carry risk for psoriasis but did not carry HLACw6. This haplotype was very similar to other risk haplotypes for at least 60 kb telomeric to HLA-C, suggesting identity by descent with the remaining risk chromosomes. The association, however, between psoriasis and this haplotype as assessed by the transmission/disequilibrium test (TDT) was of borderline significance (p-value 0.048). In order to better assess the risk associated with cluster 17, a multicenter collaboration typed additional subjects for a single marker (M6S161) for which one allele (249 bp) was found only on cluster 17. The new sample included 1275 pedigrees as well as 300 cases and 913 controls. Transmission of this allele to affected individuals was examined using the TDT and the pedigree disequilibrium test (PDT), and case-control samples were analyzed by a trend test across genotype categories. By all methods, the newly acquired genotypes failed to confirm the association originally reported, despite adequate power. In contrast, the 248 bp allele, which is found on all HLA-Cw6-positive risk haplotypes as well as several non-risk haplotypes, shows significant excess transmission for all cohorts. Taken together, these results indicate that cluster 17 does not carry a psoriasis-susceptibility allele, and expand the PSORS1 risk interval to approximately 300 kb.展开更多
Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland...Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland. Methods: An audit of the care provided to all patients attending 11 paediatric diabetes clinics comme nced in 2002. A research nurse interviewed 914 patients completing a questionnai re recording characteristics, social circumstances, and aspects of diabetes mana gement, including the monitoring of complications and access tomembers of the di abetes team. Glycaemic control was measured by glycosylated haemoglobin (HbA1c), determined at aDCCT aligned central laboratory. Results: The average HbA1c concentration was 8.8%(SD 1.5%), with 20%of patients achiev ing recommended HbA1c levels of less than 7.5%. In the year prior to the audit, 76%of patients were reviewed by a diabetes specialist nurse and 42%were teste d for microalbuminuria. After adjustment for confounding factors, better glycaem ic control was identified, particularly in patients who had attended exactly fou r diabetes clinics in the previous year, were members of the patient association Diabetes UK, and lived with both natural parents. Conclusions: In Northern Irel and only a minority of patients achieved recommended HbA1c levels. Furthermore, children and adolescents with diabetes were reviewed by fewer specialists and we re less intensively monitored for microvascular complications than recommended. There was evidence of better control in children who were members of Diabetes UK , suggesting that parental attitude and involvement could lead to benefits.展开更多
文摘Human leukocyte antigen(HLA)-Cw6 has long been associated with psoriasis, and PSORS1 (psoriasis susceptibility 1), a major gene for psoriasis susceptibility, has been mapped to its vicinity. A previous analysis identified multiple risk haplotypes carrying HLA-Cw6 and one haplotype (cluster 17, HLA-Cw8-B65) that appeared to carry risk for psoriasis but did not carry HLACw6. This haplotype was very similar to other risk haplotypes for at least 60 kb telomeric to HLA-C, suggesting identity by descent with the remaining risk chromosomes. The association, however, between psoriasis and this haplotype as assessed by the transmission/disequilibrium test (TDT) was of borderline significance (p-value 0.048). In order to better assess the risk associated with cluster 17, a multicenter collaboration typed additional subjects for a single marker (M6S161) for which one allele (249 bp) was found only on cluster 17. The new sample included 1275 pedigrees as well as 300 cases and 913 controls. Transmission of this allele to affected individuals was examined using the TDT and the pedigree disequilibrium test (PDT), and case-control samples were analyzed by a trend test across genotype categories. By all methods, the newly acquired genotypes failed to confirm the association originally reported, despite adequate power. In contrast, the 248 bp allele, which is found on all HLA-Cw6-positive risk haplotypes as well as several non-risk haplotypes, shows significant excess transmission for all cohorts. Taken together, these results indicate that cluster 17 does not carry a psoriasis-susceptibility allele, and expand the PSORS1 risk interval to approximately 300 kb.
文摘Aims: To assess the care received, compared to national guidelines, and to inv estigate factors associated with glycaemic control in children and adolescents w ith type 1 diabetes attending clinics in Northern Ireland. Methods: An audit of the care provided to all patients attending 11 paediatric diabetes clinics comme nced in 2002. A research nurse interviewed 914 patients completing a questionnai re recording characteristics, social circumstances, and aspects of diabetes mana gement, including the monitoring of complications and access tomembers of the di abetes team. Glycaemic control was measured by glycosylated haemoglobin (HbA1c), determined at aDCCT aligned central laboratory. Results: The average HbA1c concentration was 8.8%(SD 1.5%), with 20%of patients achiev ing recommended HbA1c levels of less than 7.5%. In the year prior to the audit, 76%of patients were reviewed by a diabetes specialist nurse and 42%were teste d for microalbuminuria. After adjustment for confounding factors, better glycaem ic control was identified, particularly in patients who had attended exactly fou r diabetes clinics in the previous year, were members of the patient association Diabetes UK, and lived with both natural parents. Conclusions: In Northern Irel and only a minority of patients achieved recommended HbA1c levels. Furthermore, children and adolescents with diabetes were reviewed by fewer specialists and we re less intensively monitored for microvascular complications than recommended. There was evidence of better control in children who were members of Diabetes UK , suggesting that parental attitude and involvement could lead to benefits.
