| 1. |
|
|
| 2. |
- Ahmadi, Ahmad, et al.
(författare)
-
Association of a protective paraoxonase 1 (PON1) polymorphism in Parkinson's disease
- 2012
-
Ingår i: Neuroscience Letters. - : Elsevier BV. - 0304-3940 .- 1872-7972. ; 522:1, s. 30-35
-
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.
|
|
| 3. |
- Andrew, S, et al.
(författare)
-
DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease.
- 1993
-
Ingår i: Clinical Genetics. - 0009-9163 .- 1399-0004. ; 43:6, s. 286-94
-
Tidskriftsartikel (refereegranskat)abstract
- Results of association studies can be significantly biased if the ancestry of the control population is not similar to that of the affected population. One approach to overcome such a bias is to use distinct populations where controls and affected individuals are likely to be of similar descent. We have examined homogeneous populations of French, Danish and Swedish ancestry for nonrandom allelic association between Huntington disease (HD) and several markers previously shown to be in association with HD. No evidence for nonrandom allelic association between HD and these markers was shown in these populations. The demonstration of association in a United Kingdom (UK) sample of similar size, and lack of significant differences in allele frequencies between the French, Danish, Swedish and UK populations suggested that the absence of association was not predominantly a consequence of allele frequencies or sample size. To investigate further the number of potential HD chromosomes, DNA haplotypes were constructed for the Danish, French, Swedish and UK populations. The minimum of two HD haplotypes observed in each of the French, Danish and Swedish populations, compared to the one haplotype in the UK population of a similar size, is an important factor accounting for the absence of association between HD and the DNA markers in these populations. Furthermore, these data are in favour of multiple independent origins for the mutation causing HD.
|
|
| 4. |
|
|
| 5. |
- Langlet, B, et al.
(författare)
-
Predicting Real-Life Eating Behaviours Using Single School Lunches in Adolescents
- 2019
-
Ingår i: Nutrients. - : MDPI AG. - 2072-6643. ; 11:3
-
Tidskriftsartikel (refereegranskat)abstract
- Large portion sizes and a high eating rate are associated with high energy intake and obesity. Most individuals maintain their food intake weight (g) and eating rate (g/min) rank in relation to their peers, despite food and environmental manipulations. Single meal measures may enable identification of “large portion eaters” and “fast eaters,” finding individuals at risk of developing obesity. The aim of this study was to predict real-life food intake weight and eating rate based on one school lunch. Twenty-four high-school students with a mean (±SD) age of 16.8 yr (±0.7) and body mass index of 21.9 (±4.1) were recruited, using no exclusion criteria. Food intake weight and eating rate was first self-rated (“Less,” “Average” or “More than peers”), then objectively recorded during one school lunch (absolute weight of consumed food in grams). Afterwards, subjects recorded as many main meals (breakfasts, lunches and dinners) as possible in real-life for a period of at least two weeks, using a Bluetooth connected weight scale and a smartphone application. On average participants recorded 18.9 (7.3) meals during the study. Real-life food intake weight was 327.4 g (±110.6), which was significantly lower (p = 0.027) than the single school lunch, at 367.4 g (±167.2). When the intra-class correlation of food weight intake between the objectively recorded real-life and school lunch meals was compared, the correlation was excellent (R = 0.91). Real-life eating rate was 33.5 g/min (±14.8), which was significantly higher (p = 0.010) than the single school lunch, at 27.7 g/min (±13.3). The intra-class correlation of the recorded eating rate between real-life and school lunch meals was very large (R = 0.74). The participants’ recorded food intake weights and eating rates were divided into terciles and compared between school lunches and real-life, with moderate or higher agreement (κ = 0.75 and κ = 0.54, respectively). In contrast, almost no agreement was observed between self-rated and real-life recorded rankings of food intake weight and eating rate (κ = 0.09 and κ = 0.08, respectively). The current study provides evidence that both food intake weight and eating rates per meal vary considerably in real-life per individual. However, based on these behaviours, most students can be correctly classified in regard to their peers based on single school lunches. In contrast, self-reported food intake weight and eating rate are poor predictors of real-life measures. Finally, based on the recorded individual variability of real-life food intake weight and eating rate, it is not advised to rank individuals based on single recordings collected in real-life settings.
|
|
| 6. |
|
|
| 7. |
- Ran, C, et al.
(författare)
-
Genetic Variations and mRNA Expression of NRF2 in Parkinson's Disease
- 2017
-
Ingår i: Parkinson's disease. - : Hindawi Limited. - 2090-8083 .- 2042-0080. ; 2017, s. 4020198-
-
Tidskriftsartikel (refereegranskat)abstract
- Nuclear factor erythroid 2-like 2 (NRF2) encodes a transcription factor regulating mechanisms of cellular protection and is activated by oxidative stress. NRF2 has therefore been hypothesized to confer protection against Parkinson’s disease and so far an NRF2 haplotype has been reported to decrease the risk of developing disease and delay disease onset. Also NRF2 adopts a nuclear localization in Parkinson’s disease, which is indicative of increased NRF2 activity. We have investigated the association between NRF2 and Parkinson’s disease in a Swedish case-control material and whether NRF2 expression levels correlate with NRF2 genetic variants, disease, or disease onset. Using pyrosequencing, we genotyped one intronic and three promoter variants in 504 patients and 509 control subjects from Stockholm. Further, we quantified NRF2 mRNA expression in EBV transfected human lymphocytes from patients and controls using quantitative real-time reverse transcription PCR. We found that one of the promoter variants, rs35652124, was associated with age of disease onset (Χ2 = 14.19, p value = 0.0067). NRF2 mRNA expression levels however did not correlate with the rs35652124 genotype, Parkinson’s disease, or age of onset in our material. More detailed studies on NRF2 are needed in order to elucidate how this gene affects pathophysiology of Parkinson’s disease.
|
|
| 8. |
- Wahlin, T B, et al.
(författare)
-
Reactions to predictive testing in Huntington disease : case reports of coping with a new genetic status.
- 1997
-
Ingår i: American Journal of Medical Genetics. - 0148-7299 .- 1096-8628. ; 73:3, s. 356-65
-
Tidskriftsartikel (refereegranskat)abstract
- A predictive testing program for Huntington disease has been available in Stockholm, Sweden since October 1990. Psychosocial assessments were performed throughout the testing program to evaluate the impact of the risk situation itself and the effect of predictive testing, and to identify those individuals who were most vulnerable to severe stress and anxiety reactions. All subjects underwent neurological, neuropsychological, and psychiatric examinations. Individuals undergoing predictive testing were assessed twice by a genetic counsellor before receiving their results, and at 10 days (gene carriers only) and then 2, 6, 12, and 24 months after receiving the results. The process of coping with the test results and the psychological adjustment to knowledge about new genetic status have been shown to vary considerably. In this report, we describe the results obtained from two gene carriers and two noncarriers. The four persons chosen represent different ways of coping with the outcome of the test and of integrating knowledge about their genetic status into everyday life. These cases illustrate common themes and recurrent problems often surfacing during the counselling and testing process. The longitudinal evaluations provide information about the impact, adaptation, and long-term effects of living with a new genetic status.
|
|
| 9. |
|
|
| 10. |
- Wahlin, TBR, et al.
(författare)
-
High suicidal ideation in persons testing for Huntington's disease
- 2000
-
Ingår i: ACTA NEUROLOGICA SCANDINAVICA. - : MUNKSGAARD INT PUBL LTD. - 0001-6314. ; 102:3, s. 150-161
-
Tidskriftsartikel (refereegranskat)abstract
- This study examined the first participants who registered for the Huntington's disease predictive testing program 1990-1995 in Stockholm, Sweden. A psychosocial investigation was performed to evaluate potential effects of the presymptomatic testing. The r
|
|
