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- Pulit, S. L., et al.
(författare)
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Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
- 2018
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Ingår i: Neurology-Genetics. - : Ovid Technologies (Wolters Kluwer Health). - 2376-7839. ; 4:6
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Tidskriftsartikel (refereegranskat)abstract
- Objective We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors. We observed a strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson r = 0.77 and 0.76, respectively, across SNPs with p < 4.4 x 10(-4) in the previous AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio [OR] per SD = 1.40, p = 1.45 x 10(-48)), explaining similar to 20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per SD = 1.07,p = 0.004), but no other primary stroke subtypes (all p > 0.1). Genetic risk of AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.
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| 3. |
- Marini, S., et al.
(författare)
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Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity A Meta-analysis
- 2019
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Ingår i: Jama Neurology. - : American Medical Association (AMA). - 2168-6149 .- 2168-6157. ; 76:4, s. 480-491
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. Transethnic analysis of risk may clarify the role of genetics in ICH risk across populations. OBJECTIVE To evaluate associations between established differences in ICH risk by race/ethnicity and the variability in the risks of apolipoprotein E (APOE) epsilon 4 alleles, the most potent genetic risk factor for ICH. DESIGN, SETTING, AND PARTICIPANTS This case-control study of primary ICH meta-analyzed the association of APOE allele status on ICH risk, applying a 2-stage clustering approach based on race/ethnicity and stratified by a contributing study. A propensity score analysis was used to model the association of APOE with the burden of hypertension across race/ethnic groups. Primary ICH cases and controls were collected from 3 hospital- and population-based studies in the United States and 8 in European sites in the International Stroke Genetic Consortium. Participants were enrolled from January 1, 1999, to December 31, 2017. Participants with secondary causes of ICH were excluded from enrollment. Controls were regionally matched within each participating study. MAIN OUTCOMES AND MEASURES Clinical variables were systematically obtained from structured interviews within each site. APOE genotype was centrally determined for all studies. RESULTS In total, 13 124 participants (7153 [54.5%] male with a median [interquartile range] age of 66 [56-76] years) were included. In white participants, APOE epsilon 2 (odds ratio [OR], 1.49; 95% CI, 1.24-1.80; P < .001) and APOE epsilon 4 (OR, 1.51; 95% CI, 1.23-1.85; P < .001) were associated with lobar ICH risk; however, within self-identified Hispanic and black participants, no associations were found. After propensity score matching for hypertension burden, APOE epsilon 4 was associated with lobar ICH risk among Hispanic (OR, 1.14; 95% CI, 1.03-1.28; P = .01) but not in black (OR, 1.02; 95% CI, 0.98-1.07; P = .25) participants. APOE epsilon 2 and epsilon 4 did not show an association with nonlobar ICH risk in any race/ethnicity. CONCLUSIONS AND RELEVANCE APOE epsilon 4 and epsilon 2 alleles appear to affect lobar ICH risk variably by race/ethnicity, associations that are confirmed in white individuals but can be shown in Hispanic individuals only when the excess burden of hypertension is propensity score-matched; further studies are needed to explore the interactions between APOE alleles and environmental exposures that vary by race/ethnicity in representative populations at risk for ICH.
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| 6. |
- Gaigher, A., et al.
(författare)
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Family-assisted inference of the genetic architecture of major histocompatibility complex variation
- 2016
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Ingår i: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 16:6, s. 1353-1364
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Tidskriftsartikel (refereegranskat)abstract
- With their direct link to individual fitness, genes of the major histocompatibility complex (MHC) are a popular system to study the evolution of adaptive genetic diversity. However, owing to the highly dynamic evolution of the MHC region, the isolation, characterization and genotyping of MHC genes remain a major challenge. While high-throughput sequencing technologies now provide unprecedented resolution of the high allelic diversity observed at the MHC, in many species, it remains unclear (i) how alleles are distributed among MHC loci, (ii) whether MHC loci are linked or segregate independently and (iii) how much copy number variation (CNV) can be observed for MHC genes in natural populations. Here, we show that the study of allele segregation patterns within families can provide significant insights in this context. We sequenced two MHC class I (MHC-I) loci in 1267 European barn owls (Tyto alba), including 590 offspring from 130 families using Illumina MiSeq technology. Coupled with a high per-individual sequencing coverage (similar to 3000x), the study of allele segregation patterns within families provided information on three aspects of the architecture of MHC-I variation in barn owls: (i) extensive sharing of alleles among loci, (ii) strong linkage of MHC-I loci indicating tandem architecture and (iii) the presence of CNV in the barn owl MHC-I. We conclude that the additional information that can be gained from high-coverage amplicon sequencing by investigating allele segregation patterns in families not only helps improving the accuracy of MHC genotyping, but also contributes towards enhanced analyses in the context of MHC evolutionary ecology.
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| 7. |
- Lin, Chung-Ying, et al.
(författare)
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Can a multifaceted intervention including motivational interviewing improve medication adherence, quality of life, and mortality rates in older patients undergoing coronary artery bypass surgery? A multicenter, randomized controlled trial with 18-month follow-up
- 2017
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Ingår i: Drugs & Aging. - : Springer. - 1170-229X .- 1179-1969. ; 34:2, s. 143-156
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Tidskriftsartikel (refereegranskat)abstract
- Background: Patients undergoing coronary artery bypass graft (CABG) surgery are required to take a complex regimen of medications for extended periods, and they may have negative outcomes because they struggle to adhere to this regimen. Designing effective interventions to promote medication adherence in this patient group is therefore important.Objective: The present study aimed to evaluate the long-term effects of a multifaceted intervention (psycho-education, motivational interviewing, and short message services) on medication adherence, quality of life (QoL), and mortality rates in older patients undergoing CABG surgery.Methods: Patients aged over 65 years from 12 centers were assigned to the intervention (EXP; n = 144) or treatment-as-usual (TAU; n = 144) groups using cluster randomization at center level. Medication adherence was evaluated using the Medication Adherence Rating Scale (MARS), pharmacy refill rate, and lipid profile; QoL was evaluated using Short Form-36. Data were collected at baseline; 3, 6, and 18 months after intervention. Survival status was followed up at 18 months. Multi-level regressions and survival analyses for hazard ratio (HR) were used for analyses.Results: Compared with patients who received TAU, the MARS, pharmacy refill rate, and lipid profile of patients in the EXP group improved 6 months after surgery (p < 0.01) and remained so 18 months after surgery (p < 0.01). QoL also increased among patients in the EXP group as compared with those who received TAU at 18 months post-surgery (physical component summary score p = 0.02; mental component summary score p = 0.04). HR in the EXP group compared with the TAU group was 0.38 (p = 0.04).Conclusion: The findings suggest that a multifaceted intervention can improve medication adherence in older patients undergoing CABG surgery, with these improvements being maintained after 18 months. QoL and survival rates increased as a function of better medication adherence. ClinicalTrials.gov NCT02109523.
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| 8. |
- Lin, Chung-Ying, et al.
(författare)
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Female sexual function mediates the effects of medication adherence on quality of life in people with epilepsy
- 2017
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Ingår i: Epilepsy & Behavior. - : Elsevier. - 1525-5050 .- 1525-5069. ; 67, s. 60-65
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Tidskriftsartikel (refereegranskat)abstract
- Purpose The purpose of this study was to understand the mediating effects of female sexual functioning in the association between medication adherence and quality of life (QoL) in Iranian women with epilepsy (WWE).Methods Women's sexual functioning was measured using Female Sexual Function Index; QoL using Quality of Life in Epilepsy; epilepsy severity using Liverpool Seizure Severity Scale; subjective medication adherence using Medication Adherence Report Scale; and objective medication adherence using serum level for antiepileptic drugs in 567 WWE. Medication adherence was measured at baseline, while women's sexual functioning, QoL, and epilepsy severity were measured at the 6-month follow-up. Structural equation modeling and regression models were conducted to examine the mediating role of women's sexual functioning.Results The mediating effects of sexual functioning in the relationship between medication adherence (including subjective and objective measures) and QoL were supported in the total score of Female Sexual Function Index (coefficient = 0.415, SE = 0.117, p < 0.001 for subjective medication adherence; coefficient = 1.980, SE = 0.446, p < 0.001 for objective medication adherence). Seizure severity was significantly associated with QoL but only when objective medication adherence was measured (coefficient = − 0.094, SE = 0.036, p = 0.009).Conclusion Our results extended the importance of medication adherence from symptom reduction to the beneficial effects of women's sexual functioning and QoL. Health care providers should be aware of these additional benefits of medication adherence and use these arguments to encourage female patients to take their medication, which can eventually increase their sexual satisfaction and overall QoL.
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| 9. |
- Lin, Chung-Ying, et al.
(författare)
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Theory of Planned Behavior including self-stigma and perceived barriers explain help-seeking behavior for sexual problems in Iranian women suffering from epilepsy
- 2017
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Ingår i: Epilepsy & Behavior. - : Elsevier. - 1525-5050 .- 1525-5069. ; 68, s. 123-128
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To apply the Theory of Planned Behavior (TPB) and the two additional concepts self-stigma and perceived barriers to the help-seeking behavior for sexual problems in women with epilepsy.Methods In this 18-month follow-up study, TPB elements, including attitude, subjective norm, perceived behavioral control, and behavioral intention along with self-stigma and perceived barriers in seeking help for sexual problems were assessed in n = 818 women with epilepsy (94.0% aged ≤ 40 years). The basic TPB model (model 1) and the TPB model additionally including self-stigma and perceived barriers (Model 2) were analyzed using structural equation modeling (SEM).Results Both SEM models showed satisfactory model fits. According to model, attitude, subjective norms, perceived behavioral control, and intention explained 63.1% of the variance in help-seeking behavior. Variance was slightly higher (64.5%) when including self-stigma and perceived barriers (model 2). In addition, the fit indices of the models were better highlighting the importance of self-stigma and perceived barriers in help-seeking behavior for sexual problems.Conclusion Theory of Planned Behavior is useful in explaining help-seeking behavior for sexual problems in women with epilepsy. Self-stigma and perceived barriers are additional factors that should be considered in future interventions aiming to adopt TPB to improve help-seeking behavior for sexual problems.
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| 10. |
- Lin, Chung-Ying, et al.
(författare)
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Using the Theory of Planned Behavior incorporated with perceived barriers to explore sexual counseling services delivered by healthcare professionals in individuals suffering from epilepsy
- 2017
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Ingår i: Epilepsy & Behavior. - : Elsevier. - 1525-5050 .- 1525-5069. ; 74, s. 124-129
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Tidskriftsartikel (refereegranskat)abstract
- People with epilepsy (PWE) are highly likely to suffer from sexual dysfunction, and dealing with this issue is a challenge for healthcare providers. Unfortunately, there is no theory-driven study that has investigated the counseling practice of healthcare providers for sexual problems in PWE. Therefore, we decided to apply the well-established Theory of Planned Behavior (TPB) to examine factors associated with healthcare providers' sexual counseling in PWE. Apart from TPB, perceived barriers toward providing counseling could be a possible factor that needs to be investigated as well. Therefore, two models explaining sexual counseling practice were proposed. Model 1 included only TPB and Model 2 included TPB incorporated with perceived barriers. Five hundred fifty-nine Iranian healthcare professionals responsible for PWE were recruited across several neurology clinics and asked to complete TPB-specific questionnaires. The same healthcare professionals were asked to complete an additional questionnaire on their attitudes toward sexual counseling 18 months later. Structural equation modeling suggested Model 2 to be more useful in explaining sexual counseling practice compared with Model 1. Moreover, attitude and perceived behavioral control showed stronger associations with behavioral intention, whereas subjective norm showed weaker associations. The associations were similar across different healthcare professionals (i.e., medical doctors vs. nurses). In conclusion, TPB incorporated with perceived barriers might be a useful theory for different types of healthcare providers to improve and enhance sexual counseling practice.
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