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1.
Pain ; 2021 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-33492033

RESUMO

ABSTRACT: The ICD-11 chronic pain classification includes about 100 chronic pain diagnoses on different diagnostic levels. Each of these diagnoses requires specific operationalized diagnostic criteria to be present. The classification comprises more than 200 diagnostic criteria. The aim of the Classification Algorithm for Chronic Pain in ICD-11 (CAL-CP) is to facilitate the use of the classification by guiding users through these diagnostic criteria. The diagnostic criteria were ordered hierarchically and visualized in accordance with the standards defined by the Society for Medical Decision Making Committee on Standardization of Clinical Algorithms. The resulting linear decision tree underwent several rounds of iterative checks and feedback by its developers, as well as other pain experts. A preliminary pilot evaluation was conducted in the context of an ecological implementation field study of the classification itself. The resulting algorithm consists of a linear decision tree, an introduction form, and an appendix. The initial decision trunk can be used as stand-alone algorithm in primary care. Each diagnostic criterion is represented in a decision box. The user needs to decide for each criterion whether it is present or not, and then follow the respective yes or no arrows to arrive at the corresponding ICD-11 diagnosis. The results of the pilot evaluation showed good clinical utility of the algorithm. The CAL-CP can contribute to reliable diagnoses by structuring a way through the classification and by increasing adherence to the criteria. Future studies need to evaluate its utility further and analyze its impact on the accuracy of the assigned diagnoses.

2.
Artigo em Inglês | MEDLINE | ID: mdl-33051311

RESUMO

BACKGROUND: People who die from cancer (cancer decedents) may experience unpleasant and distressing symptoms which cause them to present to unscheduled care. Unscheduled care is unplanned care delivered by general practitioner out-of-hours and emergency departments. Use of unscheduled care can disrupt treatment plans, leading to a disjointed patient care and suboptimal outcomes. OBJECTIVES: This systematic review aimed to identify factors associated with unscheduled care use by cancer decedents. METHOD: Systematic review with narrative synthesis of seven electronic databases (PubMed; Medline; Embase; Cochrane Database of Systematic Reviews; Cochrane Central Register of Controlled Trials; Web of Science; Cumulative Index to Nursing and Allied Health Literature) from inception until 01 January 2020. All observational and experimental studies were included, irrespective of their research design. RESULTS: The search yielded 238 publications included at full-text, of which 47 were included in the final review and synthesis. Unscheduled care use by cancer decedents was influenced by multiple factors, synthesised into themes: demography, clinical and patient, temporal, prescribing and systems. Cancer decedents who were older, men, had comorbidities, or lung cancer, were most likely to use unscheduled care. Unscheduled care presentations were commonly due to pain, breathlessness and gastrointestinal symptoms. Low continuity of care, and oncology-led care were associated with greater unscheduled care use. Access to palliative care, having an up-to-date palliative care plan, and carer education were associated with less unscheduled care use. CONCLUSION: The review identifies multiple factors associated with unscheduled care use by cancer decedents. Understanding these factors can inform future practice and policy developments, in order to appropriately target future interventions, optimise service delivery and improve the patient journey. PROSPERO REGISTRATION NUMBER: CRD42016047231.

3.
Pain ; 161 Suppl 1: S127-S137, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-33090746
4.
Br J Anaesth ; 125(6): 895-911, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33121750

RESUMO

BACKGROUND: Current guidelines for perioperative management of coronavirus disease 19 (COVID-19) are mainly based on extrapolated evidence or expert opinion. We aimed to systematically investigate how COVID-19 affects perioperative management and clinical outcomes, to develop evidence-based guidelines. METHODS: First, we conducted a rapid literature review in EMBASE, MEDLINE, PubMed, Scopus, and Web of Science (January 1 to July 1, 2020), using a predefined protocol. Second, we performed a retrospective cohort analysis of 166 women undergoing Caesarean section at Tongji Hospital, Wuhan during the COVID-19 pandemic. Demographic, imaging, laboratory, and clinical data were obtained from electronic medical records. RESULTS: The review identified 26 studies, mainly case reports/series. One large cohort reported greater mortality in elective surgery patients diagnosed after, rather than before surgery. Higher 30 day mortality was associated with emergency surgery, major surgery, poorer preoperative condition and surgery for malignancy. Regional anaesthesia was favoured in most studies and personal protective equipment (PPE) was generally used by healthcare workers (HCWs), but its use was poorly described for patients. In the retrospective cohort study, duration of surgery, oxygen therapy and hospital stay were longer in suspected or confirmed patients than negative patients, but there were no differences in neonatal outcomes. None of the 262 participating HCWs was infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) when using level 3 PPE perioperatively. CONCLUSIONS: When COVID-19 is suspected, testing should be considered before non-urgent surgery. Until further evidence is available, HCWs should use level 3 PPE perioperatively for suspected or confirmed patients, but research is needed on its timing and specifications. Further research must examine longer-term outcomes. CLINICAL TRIAL REGISTRATION: CRD42020182891 (PROSPERO).


Assuntos
Infecções por Coronavirus/terapia , Assistência Perioperatória/métodos , Pneumonia Viral/terapia , Adulto , Anestesia por Condução , Cesárea/métodos , Cesárea/mortalidade , Estudos de Coortes , Infecções por Coronavirus/complicações , Infecções por Coronavirus/prevenção & controle , Procedimentos Cirúrgicos Eletivos/mortalidade , Feminino , Humanos , Recém-Nascido , Tempo de Internação , Oxigenoterapia , Pandemias/prevenção & controle , Equipamento de Proteção Individual , Pneumonia Viral/complicações , Pneumonia Viral/prevenção & controle , Gravidez , Complicações Infecciosas na Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Resultado do Tratamento
5.
Pain ; 2020 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-33021568

RESUMO

Little is known about risk factors for emergency department (ED) attendance for chronic pain (CP) management and the relative service burden. We examined emergency department (ED) utilisation in patients with chronic pain (CP), identified risk factors associated with attendance for chronic musculoskeletal pain (CMP) and estimated the comparative cost of treatment. The study cohort comprised a random sample of 3,700 adults from the general population in Tayside, Scotland. Linked regional extracts, spanning a 12-month period, were obtained from national registers, providing information on ED attendances, community-dispensed prescribing and outpatient clinic attendances. The NHS Scotland Cost Book was used to ascertain the current average cost of an ED attendance (£130; ∼$167).All-cause ED attendance was higher in those with CP (68.5%; n=252) than without (29.3%; n=967). In the entire cohort, more patients attended the ED for the treatment of CMP than for any other medical condition (n=119; 32.3% of those with CP). Risk factors for ED attendance for CMP were: recent analgesic dose decreases (OR=4.55); and transitioning from opioid to non-opioid analgesics (OR=5.08). Characteristics protective of ED attendance for CMP were: being in receipt of strong opioids (OR=0.21); transitioning from non-opioid to opioid analgesics (OR=0.25); recent analgesic dose increases (OR=0.24); and being prescribed tricyclic antidepressants (OR=0.10), benzodiazepines (OR=0.46) or hypnotics (OR=0.45). CMP was one of the most expensive conditions to treat (£17,680 (∼$22,668) per annum), conferring a substantial burden on ED services. Improved understanding of the risk/protective factors could inform healthcare redesign to reduce avoidable ED attendances for CMP management.

6.
Pain ; 2020 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-33021770

RESUMO

Sex differences for chronic back pain (cBP) have been reported, with females usually exhibiting greater morbidity, severity, and poorer response to treatment. Genetic factors acting in an age-specific manner have been implicated but never comprehensively explored. We performed sex- and age-stratified genome-wide association study and single nucleotide polymorphism-by-sex interaction analysis for cBP defined as "Back pain for 3+ months" in 202,077 males and 237,754 females of European ancestry from UK Biobank. Two and 7 nonoverlapping genome-wide significant loci were identified for males and females, respectively. A male-specific locus on chromosome 10 near SPOCK2 gene was replicated in 4 independent cohorts. Four loci demonstrated single nucleotide polymorphism-by-sex interaction, although none of them were formally replicated. Single nucleotide polymorphism-explained heritability was higher in females (0.079 vs 0.067, P = 0.006). There was a high, although not complete, genetic correlation between the sexes (r = 0.838 ± 0.041, different from 1 with P = 7.8E-05). Genetic correlation between the sexes for cBP decreased with age (0.858 ± 0.049 in younger people vs 0.544 ± 0.157 in older people; P = 4.3E-05). There was a stronger genetic correlation of cBP with self-reported diagnosis of intervertebral disk degeneration in males than in females (0.889 vs 0.638; P = 3.7E-06). Thus, the genetic component of cBP in the UK Biobank exhibits a mild sex- and age-dependency. This provides an insight into the possible causes of sex- and age-specificity in epidemiology and pathophysiology of cBP and chronic pain at other anatomical sites.

8.
Br J Anaesth ; 125(2): 159-167, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32571568

RESUMO

BACKGROUND: Gabapentinoid drugs (gabapentin and pregabalin) are effective in neuropathic pain, which has a prevalence of ∼7%. Concerns about increased prescribing have implications for patient safety, misuse, and diversion. Drug-related deaths (DRDs) have increased and toxicology often implicates gabapentinoids. We studied national and regional prescribing rates (2006-2016) and identified associated sociodemographic factors, co-prescriptions and mortality, including DRDs. METHODS: National data from the Information Service Division, NHS Scotland were analysed for prescribing, sociodemographic, and mortality data from the Health Informatics Centre, University of Dundee. DRDs in which gabapentinoids were implicated were identified from National Records of Scotland and Tayside Drug Death Databases. RESULTS: From 2006 to 2016, the number of gabapentin prescriptions in Scotland increased 4-fold (164 630 to 694 293), and pregabalin 16-fold (27 094 to 435 490). In 2016 'recurrent users' (three or more prescriptions) had mean age 58.1 yr, were mostly females (62.5%), and were more likely to live in deprived areas. Of these, 60% were co-prescribed an opioid, benzodiazepine, or both (opioid 49.9%, benzodiazepine 26.8%, both 17.1%). The age-standardised death rate in those prescribed gabapentinoids was double that in the Scottish population (relative risk 2.16, 95% confidence interval 2.08-2.25). Increases in gabapentinoids contributing to cause of DRDs were reported regionally and nationally (gabapentin 23% vs 15%; pregabalin 21% vs 7%). In Tayside, gabapentinoids were implicated in 22 (39%) of DRDs, 17 (77%) of whom had not received a prescription. CONCLUSIONS: Gabapentinoid prescribing has increased dramatically since 2006, as have dangerous co-prescribing and death (including DRDs). Older people, women, and those living in deprived areas were particularly likely to receive prescriptions. Their contribution to DRDs may be more related to illegal use with diversion of prescribed medication.


Assuntos
Analgésicos Opioides/efeitos adversos , Benzodiazepinas/efeitos adversos , Overdose de Drogas/epidemiologia , Gabapentina/efeitos adversos , Padrões de Prática Médica/estatística & dados numéricos , Pregabalina/efeitos adversos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Analgésicos/efeitos adversos , Criança , Pré-Escolar , Quimioterapia Combinada/estatística & dados numéricos , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Escócia/epidemiologia , Fatores Sexuais , Adulto Jovem
9.
PLoS One ; 15(5): e0230815, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32379818

RESUMO

Smoking is a potentially causal behavioral risk factor for type 2 diabetes (T2D), but not all smokers develop T2D. It is unknown whether genetic factors partially explain this variation. We performed genome-environment-wide interaction studies to identify loci exhibiting potential interaction with baseline smoking status (ever vs. never) on incident T2D and fasting glucose (FG). Analyses were performed in participants of European (EA) and African ancestry (AA) separately. Discovery analyses were conducted using genotype data from the 50,000-single-nucleotide polymorphism (SNP) ITMAT-Broad-CARe (IBC) array in 5 cohorts from from the Candidate Gene Association Resource Consortium (n = 23,189). Replication was performed in up to 16 studies from the Cohorts for Heart Aging Research in Genomic Epidemiology Consortium (n = 74,584). In meta-analysis of discovery and replication estimates, 5 SNPs met at least one criterion for potential interaction with smoking on incident T2D at p<1x10-7 (adjusted for multiple hypothesis-testing with the IBC array). Two SNPs had significant joint effects in the overall model and significant main effects only in one smoking stratum: rs140637 (FBN1) in AA individuals had a significant main effect only among smokers, and rs1444261 (closest gene C2orf63) in EA individuals had a significant main effect only among nonsmokers. Three additional SNPs were identified as having potential interaction by exhibiting a significant main effects only in smokers: rs1801232 (CUBN) in AA individuals, rs12243326 (TCF7L2) in EA individuals, and rs4132670 (TCF7L2) in EA individuals. No SNP met significance for potential interaction with smoking on baseline FG. The identification of these loci provides evidence for genetic interactions with smoking exposure that may explain some of the heterogeneity in the association between smoking and T2D.


Assuntos
Glicemia/análise , Fumar Cigarros/genética , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Jejum/sangue , Genótipo , Adulto , Grupo com Ancestrais do Continente Africano/genética , Idoso , Fumar Cigarros/etnologia , Estudos de Coortes , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/etnologia , Grupo com Ancestrais do Continente Europeu/genética , Estudos de Viabilidade , Feminino , Loci Gênicos , Estudo de Associação Genômica Ampla , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Risco
10.
Nat Genet ; 52(5): 494-504, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32341527

RESUMO

Most genetic susceptibility to cutaneous melanoma remains to be discovered. Meta-analysis genome-wide association study (GWAS) of 36,760 cases of melanoma (67% newly genotyped) and 375,188 controls identified 54 significant (P < 5 × 10-8) loci with 68 independent single nucleotide polymorphisms. Analysis of risk estimates across geographical regions and host factors suggests the acral melanoma subtype is uniquely unrelated to pigmentation. Combining this meta-analysis with GWAS of nevus count and hair color, and transcriptome association approaches, uncovered 31 potential secondary loci for a total of 85 cutaneous melanoma susceptibility loci. These findings provide insights into cutaneous melanoma genetic architecture, reinforcing the importance of nevogenesis, pigmentation and telomere maintenance, together with identifying potential new pathways for cutaneous melanoma pathogenesis.


Assuntos
Predisposição Genética para Doença/genética , Melanoma/genética , Neoplasias Cutâneas/genética , Feminino , Loci Gênicos/genética , Estudo de Associação Genômica Ampla/métodos , Genótipo , Humanos , Masculino , Fenótipo , Pigmentação/genética , Polimorfismo de Nucleotídeo Único/genética
11.
Hum Mol Genet ; 29(8): 1396-1404, 2020 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-32246137

RESUMO

BACKGROUND: Common types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK. METHODS: A genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication. RESULTS: We identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10-11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10-10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10-8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively). CONCLUSIONS: We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain.

13.
Pharmacogenomics J ; 20(2): 329-341, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-30700811

RESUMO

Antidepressants demonstrate modest response rates in the treatment of major depressive disorder (MDD). Despite previous genome-wide association studies (GWAS) of antidepressant treatment response, the underlying genetic factors are unknown. Using prescription data in a population and family-based cohort (Generation Scotland: Scottish Family Health Study; GS:SFHS), we sought to define a measure of (a) antidepressant treatment resistance and (b) stages of antidepressant resistance by inferring antidepressant switching as non-response to treatment. GWAS were conducted separately for antidepressant treatment resistance in GS:SFHS and the Genome-based Therapeutic Drugs for Depression (GENDEP) study and then meta-analysed (meta-analysis n = 4213, cases = 358). For stages of antidepressant resistance, a GWAS on GS:SFHS only was performed (n = 3452). Additionally, we conducted gene-set enrichment, polygenic risk scoring (PRS) and genetic correlation analysis. We did not identify any significant loci, genes or gene sets associated with antidepressant treatment resistance or stages of resistance. Significant positive genetic correlations of antidepressant treatment resistance and stages of resistance with neuroticism, psychological distress, schizotypy and mood disorder traits were identified. These findings suggest that larger sample sizes are needed to identify the genetic architecture of antidepressant treatment response, and that population-based observational studies may provide a tractable approach to achieving the necessary statistical power.

14.
Addiction ; 115(2): 249-258, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31386238

RESUMO

AIM: To compare psychiatric morbidity in treatment-seeking, opioid-dependent patients with versus without chronic pain. DESIGN: A retrospective comparative cohort design was used involving record linkage from routinely collected, nationally held data sets. Data were managed within a Scottish Government-certified Safe Haven. SETTING AND PARTICIPANTS: Participants comprised all patients of an NHS Substance Misuse Service in the East of Scotland (n = 467) who were in treatment during 2005 and had been in treatment for varying lengths of time. Their mean age at study inception was 35.0 years in the chronic pain group and 32.1 years; 68% of the chronic pain group and 74% of the no pain group were male. MEASUREMENTS: The outcomes were (a) psychiatric comorbidity assessed at study inception using the 28-item General Health Questionnaire and the Clinical Outcomes in Routine Evaluation-Outcome Measure and (b) receipt of at least one prescription for a psychiatric condition during a 5-year period following study inception. The independent variable was chronic pain measured at study inception using the Brief Pain Inventory-Short Form. FINDINGS: A total of 246 (52.7%) reported chronic pain and 221 (47.3%) did not. A higher proportion of patients with chronic pain had at least one psychiatric morbidity (62.4 versus 46.3%, P < 0.001). At the study inception, a higher proportion of patients with chronic pain were prescribed anxiolytics (49.0 versus 39.1%, P = 0.015) and antimanic drugs (9.9 compared with 4.9%, P = 0.015). CONCLUSIONS: Patients of opioid treatment services in Scotland who report chronic pain may have a higher prevalence of psychiatric comorbidity than those who do not.

16.
Physiotherapy ; 106: 154-162, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-30928147

RESUMO

OBJECTIVES: (i) Examine the feasibility and acceptability of a peer support intervention (PALS) to facilitate self-management in community dwelling older adults with Chronic Low Back Pain (CLBP), and (ii) examine the feasibility of study methods in order to inform the design of a future randomised controlled trial. DESIGN: Mixed methods feasibility and acceptability study. SETTING: Community. PARTICIPANTS: 18 older adults (aged 65 to 79) with CLBP and 6 peer support volunteers (PSVs) aged 34 to 65. INTERVENTION: Six sessions of 1 to 3hours duration, approximately 2 weeks apart, delivered in mutually convenient public places, or by telephone. Each session had a suggested topic and each participant and PSV had a PALS manual detailing aims and target outcomes for each session. OUTCOME MEASURES: Recruitment, retention, integrity, acceptability and feasibility of the PALS intervention, feasibility of study processes, appropriateness and usefulness of outcome measures. RESULTS: We recruited to target and retained 2/3 of participants. PALS was delivered as intended and acceptable to people with CLBP and PSVs. Most participants were satisfied with PALS and would recommend it to someone else with CLBP. Study processes worked well, but recruitment procedures need to be refined. Outcome measures were returned and were mostly complete, but further work on the most appropriate measures is required. CONCLUSIONS: PALS was feasible to deliver and acceptable to the older people and PSVs who took part in this study. We identified amendments to PALS and the study processes that, once implemented, will allow the effectiveness of PALS to be tested in a large-scale study.


Assuntos
Doença Crônica/terapia , Dor Lombar/terapia , Autocuidado , Autogestão , Apoio Social , Adulto , Idoso , Avaliação da Deficiência , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Grupo Associado
17.
Eur J Hum Genet ; 28(3): 358-366, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31659249

RESUMO

Correlations between pain phenotypes and psychiatric traits such as depression and the personality trait of neuroticism are not fully understood. In this study, we estimated the genetic correlations of eight pain phenotypes (defined by the UK Biobank, n = 151,922-226,683) with depressive symptoms, major depressive disorders and neuroticism using the the cross-trait linkage disequilibrium score regression (LDSC) method integrated in the LD Hub. We also used the LDSC software to calculate the genetic correlations among pain phenotypes. All pain phenotypes, except hip pain and knee pain, had significant and positive genetic correlations with depressive symptoms, major depressive disorders and neuroticism. All pain phenotypes were heritable, with pain all over the body showing the highest heritability (h2 = 0.31, standard error = 0.072). Many pain phenotypes had positive and significant genetic correlations with each other indicating shared genetic mechanisms. Our results suggest that pain, neuroticism and depression share partially overlapping genetic risk factors.

18.
Neuron ; 104(4): 637-653, 2019 11 20.
Artigo em Inglês | MEDLINE | ID: mdl-31751545

RESUMO

Neuropathic pain (NeuP) arises due to injury of the somatosensory nervous system and is both common and disabling, rendering an urgent need for non-addictive, effective new therapies. Given the high evolutionary conservation of pain, investigative approaches from Drosophila mutagenesis to human Mendelian genetics have aided our understanding of the maladaptive plasticity underlying NeuP. Successes include the identification of ion channel variants causing hyper-excitability and the importance of neuro-immune signaling. Recent developments encompass improved sensory phenotyping in animal models and patients, brain imaging, and electrophysiology-based pain biomarkers, the collection of large well-phenotyped population cohorts, neurons derived from patient stem cells, and high-precision CRISPR generated genetic editing. We will discuss how to harness these resources to understand the pathophysiological drivers of NeuP, define its relationship with comorbidities such as anxiety, depression, and sleep disorders, and explore how to apply these findings to the prediction, diagnosis, and treatment of NeuP in the clinic.


Assuntos
Neuralgia/genética , Animais , Humanos
19.
Mol Psychiatry ; 2019 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-31767999

RESUMO

Alcohol use and smoking are leading causes of death and disability worldwide. Both genetic and environmental factors have been shown to influence individual differences in the use of these substances. In the present study we tested whether genetic factors, modelled alongside common family environment, explained phenotypic variance in alcohol use and smoking behaviour in the Generation Scotland (GS) family sample of up to 19,377 individuals. SNP and pedigree-associated effects combined explained between 18 and 41% of the variance in substance use. Shared couple effects explained a significant amount of variance across all substance use traits, particularly alcohol intake, for which 38% of the phenotypic variance was explained. We tested whether the within-couple substance use associations were due to assortative mating by testing the association between partner polygenic risk scores in 34,987 couple pairs from the UK Biobank (UKB). No significant association between partner polygenic risk scores were observed. Associations between an individual's alcohol PRS (b = 0.05, S.E. = 0.006, p < 2 × 10-16) and smoking status PRS (b = 0.05, S.E. = 0.005, p < 2 × 10-16) were found with their partner's phenotype. In support of this, G carriers of a functional ADH1B polymorphism (rs1229984), known to be associated with greater alcohol intake, were found to consume less alcohol if they had a partner who carried an A allele at this SNP. Together these results show that the shared couple environment contributes significantly to patterns of substance use. It is unclear whether this is due to shared environmental factors, assortative mating, or indirect genetic effects. Future studies would benefit from longitudinal data and larger sample sizes to assess this further.

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