| 3. |
- Lascorz, Jesus, et al.
(author)
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Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility
- 2010
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In: Carcinogenesis. - : Oxford University Press (OUP). - 0143-3334 .- 1460-2180. ; 31:9, s. 1612-1619
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Journal article (peer-reviewed)abstract
- Genetic susceptibility accounts for similar to 35% of all colorectal cancer (CRC). Ten common low-risk variants contributing to CRC risk have been identified through genome-wide association studies (GWASs). In our GWAS, 610 664 genotyped single-nucleotide polymorphisms (SNPs) passed the quality control filtering in 371 German familial CRC patients and 1263 controls, and replication studies were conducted in four additional case-control sets (4915 cases and 5607 controls). Known risk loci at 8q24.21 and 11q23 were confirmed, and a previously unreported association, rs12701937, located between the genes GLI3 (GLI family zinc finger 3) and INHBA (inhibin, beta A) [P = 1.1 x 10(-3), odds ratio (OR) 1.14, 95% confidence interval (CI) 1.05-1.23, dominant model in the combined cohort], was identified. The association was stronger in familial cases compared with unselected cases (P = 2.0 x 10(-4), OR 1.36, 95% CI 1.16-1.60, dominant model). Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). Three software tools successfully pointed to the overrepresentation of genes related to the mitogen-activated protein kinase (MAPK) signalling pathways among the 1340 most strongly associated markers from the GWAS (allelic P value < 10(-3)). The risk of CRC increased significantly with an increasing number of risk alleles in seven genes involved in MAPK signalling events (P-trend = 2.2 x 10(-16), ORper allele = 1.34, 95% CI 1.11-1.61).
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| 4. |
- Peternell, M., et al.
(author)
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A comparative study of quartz EBSD and Fabric Analyser: crystallographic preferred orientation from the Thaya region, Czeck Republic
- 2010
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In: Journal of Structural Geology. - : Elsevier BV. - 0191-8141 .- 1873-1201. ; 32:6, s. 803-817
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Journal article (peer-reviewed)abstract
- Quartz crystallographic preferred orientations (CPO) from three distinct orthogneisses using both the Electron Back Scatter Diffraction (EBSD) and Fabric Analyser (FA) techniques reveal a clear trend from basal and rhomb slip for high P–T conditions (670 ± 20 °C/9 kbar), rhomb and basal slip for medium P–T (590 ± 15 °C/6 kbar) and a dominance of prism slip for lower P–T conditions (<570 °C/4–5 kbar). The textural variations are interpreted in terms of a temperature field gradient and microscale strain partitioning controlled by a weak feldspar matrix that can locally invert the expected slip system sequences. Locally quartz CPOs are different within one thin section, and in comparison to bulk orientation measurements both, EBSD and the Fabric Analyser techniques are ideal to determine such textural heterogeneities. While the EBSD is a powerful technique to determine the full CPO, measurements from similar locations inside several quartz grains from the orthogneisses and an annealed and undeformed quartzite show that the FA is an accurate tool to determine CPOs of c-axis orientations in uniaxial materials. In a CPO focussed study the FA is a cheap alternative to EBSD as the analysis of whole thin section can be accomplished in a very short time, with minimal sample preparation. With the FA it is possible to evaluate the CPOs of several samples quickly with an accuracy that allows identification of the main slip systems and their homogeneity.
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