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| 2. |
- Liu, Kui, et al.
(författare)
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Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans
- 2009
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Ingår i: Journal of Clinical Investigation. - 0021-9738 .- 1558-8238. ; 119:4, s. 911-923
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Tidskriftsartikel (refereegranskat)abstract
- Immune-mediated nephritis contributes to disease in systemic lupus erythematosus, Goodpasture syndrome (caused by antibodies specific for glomerular basement membrane [anti-GBM antibodies]), and spontaneous lupus nephritis. Inbred mouse strains differ in susceptibility to anti-GBM antibody-induced and spontaneous lupus nephritis. This study sought to clarify the genetic and molecular factors that maybe responsible for enhanced immune-mediated renal disease in these models. When the kidneys of 3 mouse strains sensitive to anti-GBM antibody-induced nephritis were compared with those of 2 control strains using microarray analysis, one-fifth of the underexpressed genes belonged to the kallikrein gene family,which encodes serine esterases. Mouse strains that upregulated renal and urinary kallikreins exhibited less evidence of disease. Antagonizing the kallikrein pathway augmented disease, while agonists dampened the severity of anti-GBM antibody-induced nephritis. In addition, nephritis-sensitive mouse strains had kallikrein haplotypes that were distinct from those of control strains, including several regulatory polymorphisms,some of which were associated with functional consequences. Indeed, increased susceptibility to anti-GBM antibody-induced nephritis and spontaneous lupus nephritis was achieved by breeding mice with a genetic interval harboring the kallikrein genes onto a disease-resistant background. Finally, both human SLE and spontaneous lupus nephritis were found to be associated with kallikrein genes, particularly KLK1 and the KLK3 promoter, when DNA SNPs from independent cohorts of SLE patients and controls were compared. Collectively, these studies suggest that kallikreins are protective disease-associated genes in anti-GBM antibody-induced nephritis and lupus.
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| 3. |
- Alonso-Fernandez, Fernando, 1978-, et al.
(författare)
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Combining multiple matchers for fingerprint verification : A case study in biosecure network of excellence
- 2007
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Ingår i: Annales des télécommunications. - Paris, France : Springer. - 0003-4347 .- 1958-9395. ; 62:1-2, s. 62-82
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Tidskriftsartikel (refereegranskat)abstract
- We report on experiments for the fingerprint modality conducted during the First BioSecure Residential Workshop. Two reference systems for fingerprint verification have been tested together with two additional non-reference systems. These systems follow different approaches of fingerprint processing and are discussed in detail. Fusion experiments involving different combinations of the available systems are presented. The experimental results show that the best recognition strategy involves both minutiae-based and correlation-based measurements. Regarding the fusion experiments, the best relative improvement is obtained when fusing systems that are based on heterogeneous strategies for feature extraction and/or matching. The best combinations of two/three/four systems always include the best individual systems whereas the best verification performance is obtained when combining all the available systems.
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| 4. |
- Cox, Angela, et al.
(författare)
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A common coding variant in CASP8 is associated with breast cancer risk
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 352-358
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Tidskriftsartikel (refereegranskat)abstract
- The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.
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| 5. |
- Fierrez-Aguilar, Julian, et al.
(författare)
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Discriminative multimodal biometric authentication based on quality measures
- 2005
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Ingår i: Pattern Recognition. - Oxford : Pergamon Press. - 0031-3203 .- 1873-5142. ; 38:5, s. 777-779
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Tidskriftsartikel (refereegranskat)abstract
- A novel score-level fusion strategy based on quality measures for multimodal biometric authentication is presented. In the proposed method, the fusion function is adapted every time an authentication claim is performed based on the estimated quality of the sensed biometric signals at this time. Experimental results combining written signatures and quality-labelled fingerprints are reported. The proposed scheme is shown to outperform significantly the fusion approach without considering quality signals. In particular, a relative improvement of approximately 20% is obtained on the publicly available MCYT bimodal database.
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| 6. |
- Fronthaler, Hartwig, et al.
(författare)
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Fingerprint Image Quality Estimation and its Application to Multi-Algorithm Verification
- 2006
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- Recently, image quality awareness has been found to increase recognition rates and to supportdecisions in multimodal authentication systems significantly. Nevertheless, automatic quality assessmentis still an open issue, especially with regard to biometric authentication tasks. Here we analyze theorientation tensor of fingerprint images with a set of symmetry descriptors, in order to detect fingerprintimage quality impairments like noise, lack of structure, blur, etc. Allowed classes of local shapes area priori application information for the proposed quality measures, therefore no training or explicitimage reference information is required. Our quality assessment method is compared to an existingautomatic method and a human opinion in numerous experiments involving several public databases.Once the quality of an image is determined, it can be exploited in several ways, one of which is toadapt fusion parameters in a monomodal multi-algorithm environment, here a number of fingerprintrecognition systems. In this work, several trained and non-trained fusion schemes applied to the scoresof these matchers are compared. A Bayes-based strategy for combining experts with weights on theirpast performances, able to readapt to each identity claim based on the input quality is developed andevaluated. To show some of the advantages of quality-driven multi-algorithm fusion, such as boostingrecognition rates, increasing computational efficiency, etc., a novel cascade fusion and simple fusionrules are employed in comparison as well.
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| 7. |
- Fronthaler, Hartwig, et al.
(författare)
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Fingerprint Image-Quality Estimation and its Application to Multialgorithm Verification
- 2008
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Ingår i: IEEE Transactions on Information Forensics and Security. - New York, N.Y. : IEEE Signal Processing Society. - 1556-6013 .- 1556-6021. ; 3:2, s. 331-338
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Tidskriftsartikel (refereegranskat)abstract
- Signal-quality awareness has been found to increase recognition rates and to support decisions in multisensor environments significantly. Nevertheless, automatic quality assessment is still an open issue. Here, we study the orientation tensor of fingerprint images to quantify signal impairments, such as noise, lack of structure, blur, with the help of symmetry descriptors. A strongly reduced reference is especially favorable in biometrics, but less information is not sufficient for the approach. This is also supported by numerous experiments involving a simpler quality estimator, a trained method (NFIQ), as well as the human perception of fingerprint quality on several public databases. Furthermore, quality measurements are extensively reused to adapt fusion parameters in a monomodal multialgorithm fingerprint recognition environment. In this study, several trained and nontrained score-level fusion schemes are investigated. A Bayes-based strategy for incorporating experts' past performances and current quality conditions, a novel cascaded scheme for computational efficiency, besides simple fusion rules, is presented. The quantitative results favor quality awareness under all aspects, boosting recognition rates and fusing differently skilled experts efficiently as well as effectively (by training).
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| 8. |
- Garcia-Closas, Montserrat, et al.
(författare)
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Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
- 2008
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Ingår i: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 4:4, s. e1000054-
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Tidskriftsartikel (refereegranskat)abstract
- A three-stage genome-wide association study recently identified single nucleotide polymorphisms (SNPs) in five loci (fibroblast growth receptor 2 (FGFR2), trinucleotide repeat containing 9 (TNRC9), mitogen-activated protein kinase 3 K1 (MAP3K1), 8q24, and lymphocyte-specific protein 1 (LSP1)) associated with breast cancer risk. We investigated whether the associations between these SNPs and breast cancer risk varied by clinically important tumor characteristics in up to 23,039 invasive breast cancer cases and 26,273 controls from 20 studies. We also evaluated their influence on overall survival in 13,527 cases from 13 studies. All participants were of European or Asian origin. rs2981582 in FGFR2 was more strongly related to ER-positive (per-allele OR (95%CI) = 1.31 (1.27-1.36)) than ER-negative (1.08 (1.03-1.14)) disease (P for heterogeneity = 10(-13)). This SNP was also more strongly related to PR-positive, low grade and node positive tumors (P = 10(-5), 10(-8), 0.013, respectively). The association for rs13281615 in 8q24 was stronger for ER-positive, PR-positive, and low grade tumors (P = 0.001, 0.011 and 10(-4), respectively). The differences in the associations between SNPs in FGFR2 and 8q24 and risk by ER and grade remained significant after permutation adjustment for multiple comparisons and after adjustment for other tumor characteristics. Three SNPs (rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21)). rs13281615 in 8q24 was associated with an improvement in survival after diagnosis (per-allele HR = 0.90 (0.83-0.97). The association was attenuated and non-significant after adjusting for known prognostic factors. Our findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct. Understanding the etiologic heterogeneity of breast cancer may ultimately result in improvements in prevention, early detection, and treatment.
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| 9. |
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| 10. |
- Orozco, Gisela, et al.
(författare)
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Study of functional variants of the BANK1 gene in rheumatoid arthritis
- 2009
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Ingår i: Arthritis and Rheumatism. - : Wiley. - 0004-3591 .- 1529-0131. ; 60:2, s. 372-379
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BANK1 variants, which were previously identified as systemic lupus erythematosus (SLE) susceptibility markers, to test whether they are associated with rheumatoid arthritis (RA). METHODS: Four different cohorts were included in the study: 1,080 RA patients and 1,368 healthy controls from Spain, 278 RA patients and 568 healthy controls from Sweden, 288 RA patients and 287 healthy controls from Argentina, and 288 RA patients and 288 healthy controls from Mexico. Samples were genotyped for BANK1 single-nucleotide polymorphisms (SNPs) using a TaqMan 5'-allele discrimination assay. Statistical analysis comparing allele and genotype distributions was performed with the chi-square test. RESULTS: We did not find a significant association between RA and the rs10516487 and rs17266594 BANK1 polymorphisms. However, there was an increase in the major alleles among RA patients. Similarly, for rs3733197, there was an increase in the major allele among patients in every cohort. Nevertheless, this skewing reached statistical significance in the Spanish (P = 0.01, odds ratio [OR] 1.17 [95% confidence interval (95% CI) 1.03-1.32]) and Argentinean (P = 0.04, OR 1.31 [95% CI 1.00-1.72]) populations. We found a significant association of rs10516487 (P = 0.005, OR 1.15 [95% CI 1.04-1.28]) and rs3733197 (P = 0.0009, OR 1.17 [95% CI 1.07-1.29]) with RA in the pooled analysis. In a 3-SNP haplotype analysis, we found that the major TGG haplotype was significantly associated with RA (P = 0.005, OR 1.14 [95% CI 1.04-1.25]). In addition, we found a common CAA haplotype that was protective against RA (P = 0.0004, OR 0.82 [95% CI 0.74-0.92]). CONCLUSION: These results suggest that BANK1 SNPs and haplotypes may contribute to RA susceptibility with a low risk.
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