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- Sawcer, Stephen, et al.
(författare)
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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| 2. |
- Coyne, Karin S, et al.
(författare)
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The impact of overactive bladder on mental health, work productivity and health-related quality of life in the UK and Sweden: results from EpiLUTS.
- 2011
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Ingår i: BJU international. - 1464-410X.
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Tidskriftsartikel (refereegranskat)abstract
- Study Type - Symptom prevalence (prospective cohort) Level of Evidence1b OBJECTIVE: •To examine the prevalence and burden of overactive bladder (OAB) with bother in the UK and Sweden compared to OAB without bother and no/minimal OAB/lower urinary tract (LUTS) symptoms, respectively. PATIENTS AND METHODS: •A cross-sectional population-representative survey was conducted via the Internet in the UK, Sweden and USA. •Participants rated the frequency and bother of OAB and LUTS. Patient outcomes included the Overactive Bladder Questionnaire Short Form, Patient Perception of Bladder Condition, Short Form-12, Hospital Anxiety and Depression Scale-Anxiety and Hospital Anxiety and Depression Scale-Depression, as well as questions about treatment seeking and work productivity. •OAB was defined as urgency at least sometimes or the presence of urinary urgency incontinence. Three subgroups were compared: no/minimal symptoms, OAB without bother and OAB with bother. •Analyses were conducted by gender and country using general linear and logistic regression models to examine bothersome OAB and treatment seeking. RESULTS: •Survey response was 59.2%; 10000 people (4724 men and 5276 women) participated. •The prevalence of OAB with bother at least 'somewhat' was 10.9% and 14.6% for men in the UK and Sweden, and 22.5% and 33.7% for women in the UK and Sweden, respectively. •Men and women with bothersome OAB were significantly more likely to seek treatment, report the lowest levels of health-related quality of life and work productivity and the highest levels of anxiety and depression compared to those with no/minimal symptoms and OAB without bother. •Greater symptom severity of urgency, urgency urinary incontinence, frequency, nocturia, and increasing levels of anxiety were strongly predictive of OAB bother in both men and women. •Predictors of treatment seeking included frequency, bother as a result of urgency, and lower levels of depressive symptoms in men, and frequency, nocturia and urgency in women. CONCLUSIONS: •OAB is common in the UK and Sweden, and women are more likely to be affected then men. •The impact of OAB is evident across generic and condition-specific domains of health-related quality of life.
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| 4. |
- Coyne, Karin S, et al.
(författare)
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The Impact of OAB on Sexual Health in Men and Women: Results from EpiLUTS.
- 2011
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Ingår i: The journal of sexual medicine. - : Oxford University Press (OUP). - 1743-6109 .- 1743-6095. ; 8:6, s. 1603-15
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Tidskriftsartikel (refereegranskat)abstract
- Introduction. Prior research suggests that overactive bladder (OAB) is common and adversely affects sexuality in both men and women. However, more data are needed from population-based studies to evaluate the impact OAB on sexual health. Aim. To describe sexual health outcomes in men and women with continent and incontinent OAB (C-OAB, I-OAB) compared to those with no/minimal urinary symptoms (NMS) and to evaluate correlates of decreased sexual activity and enjoyment in men and women, and correlates of erectile dysfunction (ED), ejaculatory dysfunction (EjD), and premature ejaculation (PE) in men. Methods. A cross-sectional, population-representative survey was conducted via the Internet in the United Kingdom, Sweden, and United States. OAB was assessed via a questionnaire based on current International Continence Society definitions. Descriptive statistics were used to compare outcomes for those with I-OAB, C-OAB and NMS, and logistic regressions were used to evaluate predictors of sexual functioning. Main Outcome Measures. Participants responding to the sexual health portion of the survey were asked questions about sexual activity and satisfaction. Other outcomes included two domains from the Abbreviated Sexual Function Questionnaire, the erectile function domain of the International Index of Erectile Function, and questions assessing EjD and PE. Results. Survey response was 59.2%; 6,326 men and 8,085 women participated in the sexual health portion of the survey. Across outcomes, I-OAB and C-OAB were associated with worse sexual health as compared to those with NMS. Logistic regressions showed that those with I-OAB and C-OAB were significantly (P<0.0001) more likely to report diminished sexual activity and enjoyment of sex. I-OAB and C-OAB were also significant predictors of ED and EjD in men, but not PE. Conclusions. The impact of OAB is evident across domains of sexual health in both men and women. Sexual health should be assessed in men and women presenting with OAB. Coyne KS, Sexton CC, Thompson C, Kopp ZS, Milsom I, and Kaplan SA. The impact of OAB on sexual health in men and women: Results from EpiLUTS. J Sex Med 2011;8:1603-1615.
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