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| 2. |
- Ahmadi, Ahmad, et al.
(författare)
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Association of a protective paraoxonase 1 (PON1) polymorphism in Parkinson's disease
- 2012
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Ingår i: Neuroscience Letters. - : Elsevier BV. - 0304-3940 .- 1872-7972. ; 522:1, s. 30-35
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Tidskriftsartikel (refereegranskat)abstract
- Pesticide exposure has been suggested to increase the risk to develop Parkinson's disease (PD). The arylesterase paraoxonase 1 (PON1) is mainly expressed in the liver and hydrolyzes organophosphates such as pesticides. The polymorphism Leu54Met (rs854560) in PON1, impairing enzyme activity and leading to decreased PON1 expression levels, has been reported to be associated with Parkinson's disease (PD). PON1 is part of a cluster on chromosome 7q21.3 together with PON2 and PON3. We investigated the occurrence of four additional polymorphisms in PON1 and two in PON2 in a Swedish PD case-control material. We found a significant association (p = 0.007) with a PON1 promoter polymorphism, rs854571. The minor allele was more common among controls than PD cases which suggest a protective effect. This is strengthened by the fact that rs854571 is in strong linkage disequilibrium with another PON1 promoter polymorphism, rs854572, reported to increase PON1 gene expression. Our findings support the hypothesis that PON1 is involved in the etiology of PD and that higher PON1 levels are reducing the risk for PD. (C) 2012 Elsevier Ireland Ltd. All rights reserved.
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| 4. |
- Chambers, John C., et al.
(författare)
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Genetic loci influencing kidney function and chronic kidney disease
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 42:5, s. 373-375
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Tidskriftsartikel (refereegranskat)abstract
- Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.
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| 5. |
- Gaur, A.P.S., et al.
(författare)
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Surface Energy Engineering for Tunable Wettability through Controlled Synthesis of MoS2
- 2014
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Ingår i: Nano Letters. - : American Chemical Society (ACS). - 1530-6992 .- 1530-6984. ; 14:8, s. 4314-4321
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Tidskriftsartikel (refereegranskat)abstract
- MoS2 is an important member of the transition metal dichalcogenides that is emerging as a potential 2D atomically thin layered material for low power electronic and optoelectronic applications. However, for MoS2 a critical fundamental question of significant importance is how the surface energy and hence the wettability is altered at the nanoscale in particular, the role of crystallinity and orientation. This work reports on the synthesis of large area MoS2 thin films on insulating substrates (SiO2/Si and Al2O3) with different surface morphology via vapor phase deposition by varying the growth temperatures. The samples were examined using transmission electron microscopy and Raman spectroscopy. From contact angle measurements, it is possible to correlate the wettability with crystallinity at the nanoscale. The specific surface energy for few layers MoS2 is estimated to be about 46.5 mJ/m2. Moreover a layer thickness-dependent wettability study suggests that the lower the thickness is, the higher the contact angle will be. Our results shed light on the MoS2–water interaction that is important for the development of devices based on MoS2 coated surfaces for microfluidic applications.
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| 9. |
- Small, K. S., et al.
(författare)
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Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
- 2011
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Ingår i: Nat Genet. ; 43:6, s. 561-4
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have identified many genetic variants associated with complex traits. However, at only a minority of loci have the molecular mechanisms mediating these associations been characterized. In parallel, whereas cis regulatory patterns of gene expression have been extensively explored, the identification of trans regulatory effects in humans has attracted less attention. Here we show that the type 2 diabetes and high-density lipoprotein cholesterol-associated cis-acting expression quantitative trait locus (eQTL) of the maternally expressed transcription factor KLF14 acts as a master trans regulator of adipose gene expression. Expression levels of genes regulated by this trans-eQTL are highly correlated with concurrently measured metabolic traits, and a subset of the trans-regulated genes harbor variants directly associated with metabolic phenotypes. This trans-eQTL network provides a mechanistic understanding of the effect of the KLF14 locus on metabolic disease risk and offers a potential model for other complex traits.
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