| 11. |
- Kozyrev, Sergey, et al.
(author)
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Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus
- 2007
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In: Arthritis and Rheumatism. - : Wiley. - 0004-3591 .- 1529-0131. ; 56:4, s. 1234-1241
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Journal article (peer-reviewed)abstract
- Objective. To determine whether specific isoforms of IRF5 are transcribed in patients with systemic lupus erythematosus (SLE) who have risk genotypes in the exon 1B donor splice site at single-nucleotide polymorphism (SNP) no. rs2004640. Methods. Peripheral blood mononuclear cells were obtained from SLE patients and healthy controls from Argentina, Spain, and Germany and from trio families from Spain and Denmark. A reporter assay was used to investigate the role of SNP no. rs2004640. IRF5 expression in relation to the genotypes of functional SNPs was analyzed using quantitative polymerase chain reaction. Sequencing and genotyping of the IRF5 gene was performed. Results. Sequencing of complementary DNA from individuals with different genotypes showed 4 basic isoforms transcribed from all 5′-untranslated regions (5′-UTRs), suggesting no preferential isoform transcription based on rs2004640 genotypes. Analysis of translation efficiency showed that exon 1A was the most efficient in initiating protein synthesis. We identified a novel polymorphic insertion/deletion that defines the pattern of expression of isoforms of IRF5. The insertion consists of 4 repeats in exon 6 affecting the protein interaction domain. The insertion segregates in the risk haplotype with the high expression allele of a poly(A) site SNP no. rs10954213 and the exon 1B donor splice allele of the 5′-UTR SNP no. rs2004640. The poly(A) polymorphism correlated with levels of IRF5 in cells stimulated with interferon-α. The SNP most strongly associated with SLE was SNP no. rs2070197 (P = 5.2 × 10 -11), which is a proxy of the risk haplotype, but does not appear to be functional. Conclusion. None of the functional variants investigated in this study is strongly associated with SLE, with the exception of the exon 1B donor splice site, and its functional importance appears to be small. Our results suggest that there may be other functional polymorphisms, yet to be identified, in IRF5. We did not observe evidence of epistatic interaction between the functional SNPs.
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| 12. |
- Kumar, Saurabh, et al.
(author)
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Issues and challenges with logistics of rail maintenance
- 2006
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In: Proceedings of Abstracts and Papers of The Second International Intelligent Logistics Systems Conference 2006. - : Australian Society for Operations Research. - 095962919X ; , s. 16.1-16.9
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Conference paper (peer-reviewed)abstract
- Detection and rectification of rail defects are major issues for all rail players around the world. Some of the defects include worn out rails, weld problems, internal defects, corrugations and rolling contact fatigue (RCF) intiated problems such as surface cracks, head checks, squats spalling and shelling. There are challenges to the infrastructure maintenance people with logistics for effective inspection and cost effective recitification decisions. If these issues are addressed properly then inspection and rectification decisions can reduce potential risk of rail breaks and derailments. Inspite of continous efforts by all rail operators around the world to reduce costs, a substantial amount of railway budget is spent on inspection and maintenance of rails. These costs are further increased by inaccurate logistics decisions related to maintenance and inspection personnel, equipment and planning. This paper addresses the issues and challenges related to logistics of rail maintenance with an aim to reduce costs and risk related to rail operations.
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| 13. |
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| 14. |
- Linga-Reddy, M. V. Prasad, et al.
(author)
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A polymorphic variant in the MHC2TA gene is not associated with systemic lupus erythematosus
- 2007
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In: Tissue Antigens. - : Wiley. - 0001-2815 .- 1399-0039. ; 70:5, s. 412-414
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Journal article (peer-reviewed)abstract
- Single-nucleotide polymorphisms (SNPs) in the major histocompatibility complex class II transactivator (MHC2TA) gene encoding the class II transactivator have been associated with multiple sclerosis, rheumatoid arthritis, and myocardial infarction in the Swedish population. We used a case-control approach to investigate the prevalence of a relevant variant in Swedish systemic lupus erythematosus (SLE) cohorts to determine whether SLE shares the same MHC2TA susceptibility allele as the other diseases. No differences were observed between cases and control subjects at either the allele or genotype levels. Furthermore, no significant correlations were found when comparing different clinical and serological SLE phenotypes. This particular polymorphism rs3087456 of the MHC2TA gene does not appear to influence genetic susceptibility to SLE in the Swedish population. We conclude that our data support neither allelic nor genotype association between the MHC2TA SNP and SLE.
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| 15. |
- Linga Reddy, M. V. Prasad, et al.
(author)
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Genetic association of IRF5 with SLE in Mexicans : higher frequency of the risk haplotype and its homozygozity than Europeans
- 2007
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In: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 121:6, s. 721-727
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Journal article (peer-reviewed)abstract
- The IRF5 gene was found to be strongly associated with SLE. We identified two functional polymorphisms and recently an insertion/deletion together with a tag SNP defining the risk haplotype in individuals of European ancestry. We now analyzed sets of Mexican patients with SLE. Three polymorphisms in the IRF5 gene were genotyped in two sets of Mexican individuals with SLE and controls as well as in families including a set of pediatric SLE patients. A set of healthy Mexican Indians was also typed. Genetic association with SLE was found for all three polymorphisms. The genetic association was very strong in the case–control analysis in both sets (for SNP rs2070197, combined P = 1.26 × 10−21) and in families (combined P = 0.000004). Compared to healthy individuals with European ancestry, the frequency of the risk haplotype in healthy Mexican individuals was significantly higher and even higher in the healthy Mexican Indian group. Further, a much higher frequency of the risk haplotype and of individual homozygote for it was found among Mexican SLE patients. The significantly higher frequency of homozygote individuals for the risk haplotype among Mexican SLE patients could be the result of genetic admixture, and suggests the possibility that IRF5 could be involved in the more active disease and organ involvement known to occur among Mexican SLE patients.
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| 16. |
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| 17. |
- Petrache, C. M., et al.
(author)
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Triaxiality at high spins in Nd nuclei
- 2006
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In: Physica Scripta. - 0031-8949. ; T125, s. 212-213
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Journal article (peer-reviewed)abstract
- The level structure of Nd-140(80) has been established up to spin 48 by in-beam gamma-ray spectroscopy using the Zr-96(Ca-48, 4n) reaction. High-fold gamma-ray coincidences were measured with the EUROBALL spectrometer. Twelve new rotational bands have been discovered at high spins, showing the change from a spherical single-particle behaviour at low spins to a deformed regime with stable triaxiality at high spins. Possible configurations are assigned to the observed bands on the basis of configuration-dependent cranked Nilsson-Strutinsky calculations.
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