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- Adamovic, T, et al.
(author)
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Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population
- 2013
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In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 7:4, s. 173-179
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Journal article (peer-reviewed)abstract
- Hypospadias is a congenital malformation and a milder form of 46,XY disorder of sexual development (DSD). In the present study, we investigated 13 haplotype tagging single nucleotide polymorphisms (SNPs) covering the steroid-5-alpha reductase <i>(SRD5A2)</i> and androgen receptor<i>(AR) </i>gene region, respectively, in a cohort consisting of 260 individuals with mild hypospadias and 77 with severe disease, in addition to 471 healthy male controls. The investigated genes are known to have an important role in the hormone-dependent stage of sexual development. Our study revealed one novel marker located in the <i>AR </i>gene region (rs5919436; g.67024320C>G) to be significantly associated with an increased risk of severe hypospadias (adjusted p value: 0.02; odds ratio: 2.98). In concordance with this finding, we detected an association of a haplotype tagged by the minor allele of rs5919436 (adjusted p value: 0.04). We further detected no association between the investigated disease and the haplotype tagging polymorphisms covering the <i>SRD5A2</i> gene, which is of importance considering the conflicting results reported previously. In conclusion, our data implicate that the AR rs5919436 (g.67024320C>G) polymorphism may act as a novel genetic marker for increased susceptibility to severe hypospadias in Caucasians.
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- Adamovic, T, et al.
(author)
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The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians
- 2012
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In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 6:6, s. 292-297
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Journal article (peer-reviewed)abstract
- Hypospadias is a frequent congenital malformation in boys and is characterized by incomplete fusion of the urethral folds. The steroidogenic factor-1 <i>(SF-1, NR5A1)</i> gene plays a key role in hypothalamic-pituitary-steroidogenic organ development, and has previously been reported to be mutated in individuals with 46,XY disorder of sex development. Here, we investigated the role of <i>SF-1</i> in hypospadias, a milder form of 46,XY disorder of sex development. We performed direct sequencing analysis of the <i>SF-1</i> gene in 2 male Caucasian twins exhibiting very severe hypospadias, and in 95 Caucasian boys with mild and severe hypospadias. We further extended the analysis by investigating 332 mild and severe hypospadias cases and 422 male controls using TaqMan assays. Our sequencing revealed a novel heterozygous p.R313H (c.938G>A) missense mutation in each twin, and no mutations in the 95 Caucasian cases. Instead, a missense p.G146A (c.437G>C), and a silent known p.P125P (c.375C>T) polymorphism, respectively, was found in several of the latter cases. Further investigation of the 2 polymorphisms in the larger material of cases and controls showed no significant genotypic or allelic association. In conclusion, the <i>SF-1</i> gene may not play a significant role in the development of hypospadias in Caucasians.
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- Krys, K, et al.
(author)
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Happiness Maximization Is a WEIRD Way of Living
- 2024
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In: Perspectives on psychological science : a journal of the Association for Psychological Science. - 1745-6924. ; , s. 17456916231208367-
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Journal article (peer-reviewed)
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- Omrani, MD, et al.
(author)
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17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings
- 2011
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In: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 5:6, s. 273-276
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Journal article (peer-reviewed)abstract
- 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD 3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). To date, a total of 27 <i>HSD17B3</i> gene mutations have been described in 46,XY patients exhibiting different phenotypes at birth and virilization at puberty, sometimes in association with gynecomastia. Herein, we investigate the 46,XY DSD in an Iranian family consisting of 7 siblings, 3 of which are affected and virilized at puberty. We clinically characterized these patients andperformed direct DNA sequencing of the steroid 5-α-reductase type 2<i> (SRD5A2)</i> and the <i>HSD17B3</i> gene, respectively. We identified a homozygous mutation in the <i>HSD17B3 </i>gene (R80W; c.238C>G) in all affected siblings. No mutation was detected in the <i>SRD5A2 </i>gene. The detected mutation in the <i>HSD17B3 </i>gene was previously described in a newborn child, who died from other congenital malformations, and in a 12-year-old girl. Hence, our report adds novel value to the phenotype classification of 17-β-HSD 3 deficiency.
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- Sarwar, Nadeem, et al.
(author)
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Interleukin-6 receptor pathways in coronary heart disease : a collaborative meta-analysis of 82 studies
- 2012
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In: The Lancet. - New York, NY, USA : Elsevier. - 0140-6736 .- 1474-547X. ; 379:9822, s. 1205-1213
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Journal article (peer-reviewed)abstract
- Background: Persistent inflammation has been proposed to contribute to various stages in the pathogenesis of cardiovascular disease. Interleukin-6 receptor (IL6R) signalling propagates downstream inflammation cascades. To assess whether this pathway is causally relevant to coronary heart disease, we studied a functional genetic variant known to affect IL6R signalling. Methods: In a collaborative meta-analysis, we studied Asp358Ala (rs2228145) in IL6R in relation to a panel of conventional risk factors and inflammation biomarkers in 125 222 participants. We also compared the frequency of Asp358Ala in 51 441 patients with coronary heart disease and in 136 226 controls. To gain insight into possible mechanisms, we assessed Asp358Ala in relation to localised gene expression and to postlipopolysaccharide stimulation of interleukin 6. Findings: The minor allele frequency of Asp358Ala was 39%. Asp358Ala was not associated with lipid concentrations, blood pressure, adiposity, dysglycaemia, or smoking (p value for association per minor allele >= 0.04 for each). By contrast, for every copy of 358Ala inherited, mean concentration of IL6R increased by 34.3% (95% CI 30.4-38.2) and of interleukin 6 by 14.6% (10.7-18.4), and mean concentration of C-reactive protein was reduced by 7.5% (5.9-9.1) and of fibrinogen by 1.0% (0.7-1.3). For every copy of 358Ala inherited, risk of coronary heart disease was reduced by 3.4% (1.8-5.0). Asp358Ala was not related to IL6R mRNA levels or interleukin-6 production in monocytes. Interpretation: Large-scale human genetic and biomarker data are consistent with a causal association between IL6R-related pathways and coronary heart disease.
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- Sioris, C. E., et al.
(author)
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The atmospheric limb sounding satellite (ALISS)
- 2014
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In: Proceedings of the International Astronautical Congress, IAC. - 0074-1795. - 9781634399869 ; 4, s. 2382-2392
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Conference paper (peer-reviewed)abstract
- The Atmospheric Limb Sounding Satellite (ALISS) is a joint Canadian-Swedish concept that is currently under study by agencies, industrial partners and academic institutions in both countries. Launch is not anticipated before late 2020. ALISS has significant heritage, resembling the current Odin mission in terms of some of the countries involved and the types of instruments. However, ALISS will have a focus on the upper troposphere in addition to Odin's primarily stratospheric focus. The ALISS mission has objectives relating to climate-chemistry coupling, UV radiation, dynamics, atmospheric composition in the upper troposphere and lower stratosphere, and in conjunction with nadir sensors, air quality, by virtue of the array of key atmospheric constituents that it will measure with an unprecedented combination of vertical and horizontal resolution for satellite-borne instruments. ALISS consists of four atmospheric limb remote sensing instruments. Three of these have space heritage and are: the Canadian-designed Atmospheric Tomography System (CATS) that is a derivative of the highly successful Optical Spectrograph and InfraRed Imaging System (OSIRIS) instrument, the Swedish-designed Stratosphere Troposphere Exchange And climate Monitoring Radiometer (STEAMR) that is a follow-on instrument to the sub-millimetre radiometer (SMR) that currently operates with OSIRIS on Odin, and a Global Positioning System Radio Occultation instrument. The fourth instrument, also Canadian, is the Spatial Heterodyne Observations of Water (SHOW). SHOW will measure profiles of water vapour using its near-infrared absorption. Among other things, the ALISS package will deliver atmospheric composition (O3, H2O, NO2, HNO3, BrO, CO, aerosol, and others) measurements within the extremely important upper troposphere and lower stratosphere region for chemistry and climate studies. One application of interest would be using these measurements in conjunction with total column measurements from nadir-viewing instruments as well as data assimilation systems in order to better monitor and forecast air quality. Also, the heritage of these instruments implies the ALISS measurements will be extremely valuable in the continuation of climate-quality time series of important constituents such as stratospheric aerosols, water vapour, and ozone. Continuity of these vertically resolved data records is currently threatened by a looming gap in satellite-based limb sounders. This talk will outline the ALISS concept and the utility of the measurements.
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