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Functional polymorphism in the neuropeptide Y gene promoter (rs16147) is associated with serum leptin levels and waist-hip ratio in women
2013
<b><i>Objective:</i></b> The neuropeptide-Y (NP-Y) gene is a strong candidate gene in the pathophysiology of obesity-linked behavior, and several single-nucleotide polymorphisms of NP-Y have already been linked to body weight and appetite. However, the results from current studies remain inconclusive. The aim of the present study was to test whether a certain functional genetic variant (SNP rs16147) in the NP-Y promoter gene is associated with serum leptin levels and body fat distribution. <b><i>Method:</i></b> We genotyped and measured the serum leptin levels of the NP-Y rs16147 polymorphism in 1,097 Caucasian subjects in the context of a pop…
DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population
2005
Introduction: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G→A substitution at nucleotide 113, was associated with susceptibility to Crohn’s disease (CD) whereas an extended haplotype A conferred protection. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. Patients and methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Ge…
Predictors of weight loss after an intensive lifestyle intervention program in obese patients: a 1-year prospective cohort study.
2013
Published Version of an article in the journal: Health and Quality of Life Outcomes. Also available from the publisher at: http://dx.doi.org/10.1186/1477-7525-11-165 Open access Background Studies of lifestyle intervention programs in morbid obesity report large variations in weight loss outcomes. This is reported not only between but also within standardized programs. Such reports point to participants’ characteristics as possible predictors of this outcome. The aim of this prospective cohort study was to identify predictors of weight loss after a 1-year partly residential intensive lifestyle intervention program (ILI). Methods Morbidly obese patients (n=199), all Caucasian, 71% women, mea…
Event-related potentials reflecting the processing of phonological constraint violations
2009
How are violations of phonological constraints processed in word comprehension? The present article reports the results of an event-related potentials (ERP) study on a phonological constraint of German that disallows identical segments within a syllable or word (CC(i)VC(i)). We examined three types of monosyllabic late positive CCVC words: (a) existing words [see text], (b) wellformed novel words [see text] and component (c) illformed novel words [see text] as instances of Obligatory Contour Principle non-word (OCP) violations. Wellformed and illformed novel words evoked an N400 effect processing in comparison to existing words. In addition, illformed words produced an enhanced late posteri…
Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
2012
One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified mostly through genome-wide association studies and expression quantitative trait loci (eQTLs) discovered in a recently determined large monocyte expression data set from the Gutenberg Health Study (1…
No association of alcohol dependence with HOMER 1 and 2 genetic variants.
2010
Several lines of evidence indicate that alterations of the central cortico-accumbens glutamate pathway are involved in the development and maintenance of alcohol- and substance-use disorders. The HOMER protein family is encoded by 3 genes HOMER (1–3) which are components of the excitatory postsynaptic density complex and function to modulate synaptic activity by the regulation of glutamate signaling. HOMER 1 and 2 have been reported to contribute to chronic alcohol-induced long-term neurochemical changes in the endogenous reward system. Data from animal models suggest a potential role of the Homer protein family in the development of alcohol and substance use. The aim of this study is to as…
Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.
2013
Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…
HLA-B8,DR3 haplotype affects lymphocyte blood levels
1997
The number of lymphocytes in the blood is constant, pointing to an effective control of circulating lymphocyte values. The mechanisms of this regulation are uncertain, although it is likely that the number of blood lymphocytes is conditioned by hormones, homing factors and cytokines whose production is at least partly restrained by genetic factors. Particularly genetic factors linked to major histocompatibility complex (MHC) appear to be involved. In human beings a decreased number of blood lymphocytes has been described in healthy subjects carrying the Human Leucocyte Antigens (HLA) haplotype HLA-B8,DR3. In the present study, to inquire into the mechanisms of this lymphocyte decreased numb…
HLA-B8,DR3 phenotype and lymphocyte responses to phytohaemagglutinin.
1990
Several reports have shown that HLA-B8,DR3 positive subjects may display some changes in immune parameters when compared with HLA-B8,DR3 negative ones and are prone to develop several immunological diseases. In the present study we have analysed the proliferative response to phytohaemagglutin (PHA) in HLA-typed healthy subjects. A twin method was also employed to assess the role of genetic and environmental factors in the regulation of the response to the mitogen. It was not possible to demonstrate any difference in proliferative response to optimal doses of PHA between groups of subjects carrying or not carrying the HLA-B8,DR3 phenotype. When suboptimal responses were studied, however, the…
Neuromuscular responses to different resistance loading protocols using pneumatic and weight stack devices
2013
The purpose of this study was to examine single repetition characteristics and acute neuromuscular responses to typical hypertrophic (HL), maximal strength (MSL), and power (PL) loadings performed with two of the most common resistance modes; pneumatic and weight stack. Acute responses were assessed by measuring maximal voluntary contraction (MVC), corresponding quadriceps-EMG and resting and superimposed twitch torques. Activation level was calculated from the twitch torques. Decreases in MVC were greater during HL and MSL than during PL. During HL, resting twitch force decreased 8% (P < 0.05) more on the weight stack than on the pneumatic device. Furthermore, loading using the weight stac…