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- Shin, J. H., et al.
(författare)
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IA-2 autoantibodies in incident type I diabetes patients are associated with a polyadenylation signal polymorphism in GIMAP5
- 2007
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Ingår i: Genes Immun. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:6, s. 503-12
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Tidskriftsartikel (refereegranskat)abstract
- In a large case-control study of Swedish incident type I diabetes patients and controls, 0-34 years of age, we tested the hypothesis that the GIMAP5 gene, a key genetic factor for lymphopenia in spontaneous BioBreeding rat diabetes, is associated with type I diabetes; with islet autoantibodies in incident type I diabetes patients or with age at clinical onset in incident type I diabetes patients. Initial scans of allelic association were followed by more detailed logistic regression modeling that adjusted for known type I diabetes risk factors and potential confounding variables. The single nucleotide polymorphism (SNP) rs6598, located in a polyadenylation signal of GIMAP5, was associated with the presence of significant levels of IA-2 autoantibodies in the type I diabetes patients. Patients with the minor allele A of rs6598 had an increased prevalence of IA-2 autoantibody levels compared to patients without the minor allele (OR=2.2; Bonferroni-corrected P=0.003), after adjusting for age at clinical onset (P=8.0 x 10(-13)) and the numbers of HLA-DQ A1*0501-B1*0201 haplotypes (P=2.4 x 10(-5)) and DQ A1*0301-B1*0302 haplotypes (P=0.002). GIMAP5 polymorphism was not associated with type I diabetes or with GAD65 or insulin autoantibodies, ICA, or age at clinical onset in patients. These data suggest that the GIMAP5 gene is associated with islet autoimmunity in type I diabetes and add to recent findings implicating the same SNP in another autoimmune disease.
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- Sedimbi, S. K., et al.
(författare)
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SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients
- 2007
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Ingår i: Genes Immun. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 8:6, s. 518-21
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Tidskriftsartikel (refereegranskat)abstract
- SUMO4 M55V, located in IDDM5, has been a focus for debate because of its association to type I diabetes (TIDM) in Asians but not in Caucasians. The current study aims to test the significance of M55V association to TIDM in a large cohort of Swedish Caucasians, and to test whether M55V is associated in those carrying human leukocyte antigen (HLA) class II molecules. A total of 673 TIDM patients and 535 age- and sex-matched healthy controls were included in the study. PCR-RFLP was performed to identify the genotype and allele variations. Our data suggest that SUMO4 M55V is not associated with susceptibility to TIDM by itself. When we stratified our patients and controls based on heterozygosity for HLA-DR3/DR4 and SUMO4 genotypes, we found that presence of SUMO4 GG increased further the relative risk conferred by HLA-DR3/DR4 to TIDM, whereas SUMO4 AA decreased the risk. From the current study, we conclude that SUMO4 M55V is associated with TIDM in association with high-risk HLA-DR3 and DR4, but not by itself.
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- Axelsson, R, et al.
(författare)
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Role of scintigraphy with technetium-99m depreotide in the diagnosis and management of patients with suspected lung cancer
- 2008
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 1600-0455 .- 0284-1851. ; 49:3, s. 295-302
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Tidskriftsartikel (refereegranskat)abstract
- Background: In Sweden, there are over 3000 new lung cancer cases every year. There are still numerous patients with undetermined lesions after routine diagnostic evaluation by clinical examination, chest radiography, computed tomography (CT) of the thorax, and bronchoscopy. An appropriate method for further diagnostic workup is therefore needed. Purpose: To evaluate the diagnostic value of the somatostatin analogue depreotide in patients with suspected lung cancer, and to determine in which clinical settings it would be beneficial to use 99mTc-depreotide scintigraphy. Material and Methods: We included 99 consecutive patients referred to our hospital with suspected lung cancer. A clinical examination, bronchoscopy, chest radiography, CT of the thorax and upper abdomen, and scintigraphy were done. Scintigraphy was performed after injection of 740 MBq 99mTc depreotide with tomographical imaging of the thorax and whole-body scanning. The diagnostic outcome of the scintigrams was compared to CT, using morphology or clinical outcome as the endpoint. Results:99mTc-depreotide uptake was found in 62 out of 66 malignancies, including 57 of 58 primary lung cancer cases. Two cases of lung metastasis (one from a colon cancer and one from an adenoid cystic carcinoma originating in the palate) and one rib chondrosarcoma did not show depreotide uptake. There were 33 patients with benign lesions, of whom 16 displayed false-positive 99mTc-depreotide uptake, whereof 11 were pneumonias. Tc-99m-depreotide uptake was absent in 17 patients with benign lesions, including all 10 hamartomas. The sensitivity in detecting malignancy was 94%, and in detecting lung cancer 98%. The specificity was calculated based on two sets of data. When all cases were used, the specificity was 52%. If the 12 pneumonias are excluded, the specificity was 77%. Conclusion:99mTc-depreotide scintigraphy has a high sensitivity in detecting lung cancer. The method is useful in decision-making with respect to surgery.
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- Baath, M, et al.
(författare)
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Somatostatin receptor scintigraphy with 99mTc-Depreotide (NeoSpect) in discriminating between malignant and benign lesions in the diagnosis of lung cancer: a pilot study
- 2004
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Ingår i: Acta radiologica (Stockholm, Sweden : 1987). - : SAGE Publications. - 0284-1851 .- 1600-0455. ; 45:8, s. 833-839
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To evaluate the diagnostic value of a new somatostatin analog, 99mTc-Depreotide, in differentiating benign from malignant lesions in patients with pulmonary nodules or masses. Material and Methods: A pilot study was performed on 28 patients referred to our Lung Department on suspicion of lung cancer. A chest X-ray, computed tomography (CT) of the thorax and upper abdomen, and scintigraphy were done - scintigraphy following the administration of 740 MBq 99mTc-Depreotide. Planar and tomographical imaging of the thorax and whole-body scanning with a gamma camera were done, and diagnostic outcome of the scintigrams was compared to CT, pathology, and clinical outcome. Results: Of 21 patients who had a focal high uptake of Depreotide, 17 were malignancies. One patient had two lesions with high Depreotide uptake, lung cancer, and pneumonia in the contralateral lung. Two patients with sarcoidosis and one with bilateral round atelectasis also had high Depreotide uptake bilaterally. Seven of the 8 patients with no uptake were true negative: 5 hamartomas and 2 round atelectases. One small lung cancer in the pleura sinus did not have Depreotide uptake. Conclusion: The somastotatin analog Depreotide is promising for discriminating between malignant and benign lung lesions.
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