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1.
Laeknabladid ; 109(2): 67-73, 2023 Feb.
Artículo en Is | MEDLINE | ID: mdl-36705586

RESUMEN

INTRODUCTION: Chronic pain is a health problem that is one of leading cause of disability. Studies have shown that various aspects of a person's history, such as difficult experiences in early life, can affect lifestyle and health later. The aim of this study was to examine the relationship between chronic pain, adverse childhood experience (ACE) and violence in adulthood in the general population of Iceland.  MATERIAL AND METHODS: A retrospective cross-sectional study. The sample was 12.400 individuals, 18-80 years of age, randomly selected from respondents' group of the data collection company MASKINA (National Portal). Data on chronic pain, ACE and experience of violence in adulthood were examined. Statistical processing was carried out in IBM SPSS Statistics 28th edition.  RESULTS: Response rate was 44.8% (female 57.1%, M=56 years). Prevalence of chronic pain (≥3 months) was 40.1%. A total of 91.1% of participants answered questions about ACE, of which 16.1% ≥4 ACE-scores. There was a positive relationship between ACE and chronic pain (OR = 1.675, 95% CI: 1.420 - 1.977). Those who had ≥4 ACE-scores were more likely to have experienced violence in adulthood.  CSONCLUSION: The results of this study show that chronic pain and violence in adulthood can be associated with psychological childhood trauma. People who experience psychological childhood trauma and violence in adulthood are more likely to suffer from chronic pain. It is important to be aware of experiences of childhood psychological trauma and violence when people seek healthcare for chronic pain.


Asunto(s)
Maltrato a los Niños , Dolor Crónico , Trauma Psicológico , Adulto , Niño , Femenino , Humanos , Maltrato a los Niños/psicología , Dolor Crónico/diagnóstico , Dolor Crónico/epidemiología , Estudios Transversales , Estudios Retrospectivos , Masculino , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años
2.
Pain Manag Nurs ; 22(3): 281-292, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33334680

RESUMEN

BACKGROUND: Pain is underrecognized and undertreated in patients with dementia. It has been suggested that nurses' attitudinal barriers may contribute to the challenges surrounding pain assessment and management in dementia. AIMS: This integrative literature review aims to identify and explore nurses' knowledge and attitudes towards pain assessment in older people with dementia and how it may affect pain management in this patient group. METHOD: Electronic searches were conducted in Web of Science, MEDLINE, Scopus, ProQuest, PubMed, and EBSCOhost from January 2008 to December 2018 for articles specifically focusing on nurses' knowledge and attitudes towards pain assessment in older patients with dementia. RESULTS: Ten studies were included in the review after meeting the inclusion criteria. Data extracted from each study included study design, aims and objectives, setting/sample, findings, and limitations. Patients with dementia are at greater risk of experiencing underassessment, undertreatment, and delayed treatment of pain due to nurses' knowledge deficits and uncertainty in the decision-making process. Nurses see providing comfort and reducing pain as ethical obligation. However, they find pain assessment a challenge due to the complexity of recognizing painful behaviors, and difficulty differentiating between pain and behavioral disturbances in dementia. Poor multidisciplinary communication, time constraints, and workload pressure, as well as uncertainty about opioid use, are important barriers to effective pain assessment and management among patients with dementia. CONCLUSION: It is essential that nurses gain confidence in distinguishing signs and symptoms of pain from behavioral changes in dementia. It is important to improve interdisciplinary communication and to get physicians to listen and prioritize pain assessment and management.


Asunto(s)
Demencia , Enfermeras y Enfermeros , Anciano , Competencia Clínica , Demencia/complicaciones , Conocimientos, Actitudes y Práctica en Salud , Humanos , Dimensión del Dolor
3.
Pain Manag Nurs ; 17(5): 322-32, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27553131

RESUMEN

Pain is a personal experience and patient-provider communication therefore an essential part of diagnosis and treatment where the patient's perspective needs to be central. The aim of this descriptive cross-sectional study was to investigate chronic-pain-related patient-provider communication in the context of sociodemographic variables, pain variables, perceived outcome of care, and satisfaction with health care providers. A postal questionnaire measuring socio-demographic variables, pain characteristics, pain-related health care utilization and patient-provider communication was sent to a sample of 4,500 individuals randomly drawn from the national population of Iceland. A subsample reporting chronic pain and having visited a health care provider for pain the previous six months (n = 401) was analyzed. Relationships between patient-provider communication and other measured variables were tested using bivariate and multivariate statistics. The more chronic pain impaired health-related quality of life, the more provider control the patients perceived in the patient-provider communication. There was also a strong negative relationship between patients' perception of providers' support and openness to discussing symptoms, and satisfaction with health care provider. Patients' perception of their own control in patient-provider communication and involvement in decisions regarding care was related to sociodemographic variables (specifically, education and residence) but not to pain related variables. This study highlights the importance of assessing chronic pain in a broad spectrum, listening, and giving patients time and support to communicate chronic pain and how it affects their life situation. The more interfering the pain is, the more important this is.


Asunto(s)
Dolor Crónico/rehabilitación , Comunicación , Relaciones Enfermero-Paciente , Percepción , Adulto , Anciano , Dolor Crónico/terapia , Estudios Transversales , Femenino , Humanos , Islandia , Masculino , Persona de Mediana Edad , Satisfacción del Paciente , Calidad de Vida/psicología , Factores Socioeconómicos , Encuestas y Cuestionarios
4.
Nat Genet ; 39(6): 770-5, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17460697

RESUMEN

We conducted a genome-wide association study for type 2 diabetes (T2D) in Icelandic cases and controls, and we found that a previously described variant in the transcription factor 7-like 2 gene (TCF7L2) gene conferred the most significant risk. In addition to confirming two recently identified risk variants, we identified a variant in the CDKAL1 gene that was associated with T2D in individuals of European ancestry (allele-specific odds ratio (OR) = 1.20 (95% confidence interval, 1.13-1.27), P = 7.7 x 10(-9)) and individuals from Hong Kong of Han Chinese ancestry (OR = 1.25 (1.11-1.40), P = 0.00018). The genotype OR of this variant suggested that the effect was substantially stronger in homozygous carriers than in heterozygous carriers. The ORs for homozygotes were 1.50 (1.31-1.72) and 1.55 (1.23-1.95) in the European and Hong Kong groups, respectively. The insulin response for homozygotes was approximately 20% lower than for heterozygotes or noncarriers, suggesting that this variant confers risk of T2D through reduced insulin secretion.


Asunto(s)
Proteínas Portadoras/genética , Diabetes Mellitus Tipo 2/genética , Resistencia a la Insulina/genética , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas del Tejido Nervioso/genética , Polimorfismo de Nucleótido Simple , Adulto , Glucemia/metabolismo , Estudios de Casos y Controles , Estudios Transversales , Femenino , Frecuencia de los Genes , Genoma Humano , Humanos , Insulina/metabolismo , Secreción de Insulina , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Factores de Transcripción TCF/genética , Proteína 1 Similar al Factor de Transcripción 7 , Proteína 2 Similar al Factor de Transcripción 7
5.
Health Expect ; 18(6): 2704-19, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25059634

RESUMEN

BACKGROUND: Individuals with chronic pain are among the most frequent users of health care. Still, a significant percentage does not utilize health care for pain. A range of factors predict chronic pain-related health care utilization. DESIGN: A cross-sectional study aimed at identifying predictors of chronic pain-related health care utilization and comparing predictors between men and women. METHODS: A postal questionnaire measuring sociodemographic variables, pain characteristics, health-related quality of life (HRQoL) and pain-related health care utilization, was sent to a sample of 4500 individuals randomly drawn from the national population of Iceland. The relationships between sociodemographic and pain-related factors and pain-related health care utilization among participants reporting chronic pain (≥3 months) were tested by using bivariate and multivariate statistical analysis. RESULTS: Among participants reporting chronic pain, 53.2% had consulted a health care provider for pain during the previous 6 months. Predictors for chronic pain-related health care utilization differed between men and women. Interference with life and pain pattern was the strongest predictors among women, as compared with interference with life and the physical components of HRQoL for men. Pain-related health care utilization was not linked to sociodemographic factors. CONCLUSIONS: Pain-related variables are better predictors of chronic pain-related health care utilization than sociodemographic factors. Even though gender does not predict chronic pain-related health care utilization, there are gender differences in the relationships between pain-related variables and health care utilization. Men tend to postpone health care consultations for chronic pain longer than women.


Asunto(s)
Dolor Crónico/terapia , Atención a la Salud/estadística & datos numéricos , Dolor Crónico/epidemiología , Estudios Transversales , Femenino , Necesidades y Demandas de Servicios de Salud , Humanos , Islandia/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Encuestas y Cuestionarios
6.
Nat Genet ; 38(3): 320-3, 2006 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-16415884

RESUMEN

We have previously reported suggestive linkage of type 2 diabetes mellitus to chromosome 10q. We genotyped 228 microsatellite markers in Icelandic individuals with type 2 diabetes and controls throughout a 10.5-Mb interval on 10q. A microsatellite, DG10S478, within intron 3 of the transcription factor 7-like 2 gene (TCF7L2; formerly TCF4) was associated with type 2 diabetes (P = 2.1 x 10(-9)). This was replicated in a Danish cohort (P = 4.8 x 10(-3)) and in a US cohort (P = 3.3 x 10(-9)). Compared with non-carriers, heterozygous and homozygous carriers of the at-risk alleles (38% and 7% of the population, respectively) have relative risks of 1.45 and 2.41. This corresponds to a population attributable risk of 21%. The TCF7L2 gene product is a high mobility group box-containing transcription factor previously implicated in blood glucose homeostasis. It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway.


Asunto(s)
Diabetes Mellitus Tipo 2/genética , Factores de Transcripción TCF/genética , Mapeo Cromosómico , Cromosomas Humanos Par 10 , Estudios de Cohortes , Dinamarca , Frecuencia de los Genes , Tamización de Portadores Genéticos , Predisposición Genética a la Enfermedad , Humanos , Intrones , Repeticiones de Microsatélite , Datos de Secuencia Molecular , Valores de Referencia , Proteína 2 Similar al Factor de Transcripción 7
7.
Pain Manag Nurs ; 15(3): 641-51, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24144571

RESUMEN

To establish the scope of the problem of chronic pain in the population, we need to extend the focus on prevalence, the most frequently studied factor. Among other important factors is the complex relationship between the temporal characteristics of pain and their impact on peoples' lives. The purpose of the present study was to describe the characteristics of chronic pain, including pattern, severity, location, spread, and duration, in a population-based sample and to investigate the relationships between pain pattern and impact on the individual's life measured by interference with life and health-related quality of life (HRQoL). In this cross-sectional study, a postal questionnaire measuring pain characteristics, life interference (Brief Pain Inventory), and HRQoL (Short Form 36 Health Survey), was sent to a sample of 4,500 individuals, randomly drawn from the Icelandic National Register. The total response rate was 36.9% and was significantly higher among native Icelanders (40.6%) than individuals of non-Icelandic origin (8.6%).The prevalence of chronic pain (≥3 months) was 47.5% with mean duration of 9.3 years, and 31.9% reported constant pain. Participants with constant pain reported higher life interference scores and less HRQoL than participants with intermittent or periodic pain. Hierarchical stepwise regression analyses showed that pain pattern and severity accounted for 44.4% variance for life interference. The range of the variances for these variables for the five domains of HRQoL was from 7.3% (mental health) to 53.3% (bodily pain). Pain pattern and severity are the most significant predictors of the impact of chronic pain on individual's daily life.


Asunto(s)
Dolor Crónico/epidemiología , Dolor Crónico/psicología , Conducta de Enfermedad , Calidad de Vida/psicología , Adulto , Anciano , Estudios Transversales , Femenino , Estado de Salud , Humanos , Islandia , Masculino , Persona de Mediana Edad , Dimensión del Dolor , Prevalencia , Índice de Severidad de la Enfermedad
8.
Nat Genet ; 35(2): 131-8, 2003 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-14517540

RESUMEN

We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atherosclerosis. Notably, we found that haplotypes can be classified into three distinct groups: wild-type, at-risk and protective. We also observed a substantial disregulation of multiple PDE4D isoforms in affected individuals. We propose that PDE4D is involved in the pathogenesis of stroke, possibly through atherosclerosis, which is the primary pathological process underlying ischemic stroke.


Asunto(s)
3',5'-AMP Cíclico Fosfodiesterasas/genética , Isquemia Encefálica/enzimología , Isquemia Encefálica/genética , Cromosomas Humanos Par 5 , Desequilibrio de Ligamiento , Regiones no Traducidas 5'/genética , Secuencia de Bases , Mapeo Cromosómico , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 3 , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4 , Predisposición Genética a la Enfermedad , Humanos , Isoenzimas/genética , Repeticiones de Microsatélite , Datos de Secuencia Molecular , Polimorfismo Genético , Polimorfismo de Nucleótido Simple
9.
Scand J Caring Sci ; 27(3): 740-9, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22935049

RESUMEN

AIM: The aim of this study was to evaluate the psychometric properties of the Icelandic version of the Modified Patients' Perceived Involvement in Care Scale (M-PICS), I-PICS, an instrument measuring patients' perceptions of pain-related communication with health care providers (HCP). METHODS: The M-PICS was translated into Icelandic according to standard procedures for forward and backward translation. The questionnaire consisted of 20 items measuring four constructs: (i) the degree to which the HCP was perceived as controlling the information-exchange process; (ii) to what extent patients sought or shared information with their HCP; (iii) patients' perceived encouragement to raise questions and discuss their symptoms with their health care provider and (iv) patients' perceived participation in decision-making during the health care visit. The response options for each item ranged from one to five on a 5-point Likert scale, where higher scores indicated higher endorsement. RESULTS: One hundred and forty-nine participants with pain lasting longer than three months (77.2% women; mean age, 49.9 years) completed the questionnaire. To examine the construct validity of the I-PICS, a confirmatory factor analysis was performed, specifying four factors in congruence with the theoretical underpinnings of the original modified scale (M-PICS). Of the 20 items, 19 were retained, and the I-PICS factor structure was for the most part identical to the M-PICS, with the exception of three items that moved between factors and one item that did not fall decisively on one specific factor. Internal consistency (alpha) for the four factors ranged from 0.74 to 0.86 and was 0.86 for the total scale. The mean score on the total I-PICS was 2.67 on a one to five scale, ranging from 1.21 to 4.28 (possible range, 1-5). CONCLUSION: This study supports the four-factor structure of the M-PICS and that the I-PICS is a valid and reliable instrument for assessing patient-HCP communication.


Asunto(s)
Manejo del Dolor , Participación del Paciente , Enfermedad Crónica , Femenino , Humanos , Masculino
10.
Int J Med Inform ; 167: 104862, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-36179598

RESUMEN

BACKGROUND: Telehealth, or healthcare offered through the internet, computers, and other devices for communication, is rapidly increasing with changing times and technological advancement. For quality and security of such services, it is crucial that professionals are competent in offering such service. Still, lack of professionals' training has been identified as one of the barriers to implementation of telehealth. Thus, to improve such training, it is crucial to identify professionals' knowledge, experience, and perspectives towards challenges and opportunities of using telehealth. OBJECTIVE: The review's objective was to answer the research question: what is known in the literature about challenges and opportunities of telehealth service provision from the perspective of health professionals? METHODS: Arksey and O'Malley's five-stage approach for scoping studies was used for the review. Studies were collected across four databases: Scopus, PubMed, ProQuest and EBSCOhost. The data from the 22 included studies were reported by using frequency counts and categorization of health professionals' experiences. RESULTS: The findings of the review led to three categories: (1) study demographics, (2) challenges for telehealth, and (3) opportunities for telehealth. The most frequently reported challenges were issues related to communications, inadequate technology, or support, and need for training and knowledge to use the technology. The most frequent categories of opportunities related to improved access to services, benefits related to sharing of information sharing and experience and training of using technology. DISCUSSION: Further research is needed to explore health professionals' experience of training, and to understand the type of support, resources, and training content they need to enhance their competency in telehealth provision.


Asunto(s)
Personal de Salud , Telemedicina , Comunicación , Atención a la Salud , Humanos
11.
N Engl J Med ; 358(22): 2355-65, 2008 May 29.
Artículo en Inglés | MEDLINE | ID: mdl-18445777

RESUMEN

BACKGROUND: Bone mineral density influences the risk of osteoporosis later in life and is useful in the evaluation of the risk of fracture. We aimed to identify sequence variants associated with bone mineral density and fracture. METHODS: We performed a quantitative trait analysis of data from 5861 Icelandic subjects (the discovery set), testing for an association between 301,019 single-nucleotide polymorphisms (SNPs) and bone mineral density of the hip and lumbar spine. We then tested for an association between 74 SNPs (most of which were implicated in the discovery set) at 32 loci in replication sets of Icelandic, Danish, and Australian subjects (4165, 2269, and 1491 subjects, respectively). RESULTS: Sequence variants in five genomic regions were significantly associated with bone mineral density in the discovery set and were confirmed in the replication sets (combined P values, 1.2x10(-7) to 2.0x10(-21)). Three regions are close to or within genes previously shown to be important to the biologic characteristics of bone: the receptor activator of nuclear factor-kappaB ligand gene (RANKL) (chromosomal location, 13q14), the osteoprotegerin gene (OPG) (8q24), and the estrogen receptor 1 gene (ESR1) (6q25). The two other regions are close to the zinc finger and BTB domain containing 40 gene (ZBTB40) (1p36) and the major histocompatibility complex region (6p21). The 1p36, 8q24, and 6p21 loci were also associated with osteoporotic fractures, as were loci at 18q21, close to the receptor activator of the nuclear factor-kappaB gene (RANK), and loci at 2p16 and 11p11. CONCLUSIONS: We have discovered common sequence variants that are consistently associated with bone mineral density and with low-trauma fractures in three populations of European descent. Although these variants alone are not clinically useful in the prediction of risk to the individual person, they provide insight into the biochemical pathways underlying osteoporosis.


Asunto(s)
Densidad Ósea/genética , Receptor alfa de Estrógeno/genética , Fracturas Óseas/genética , Osteoporosis/genética , Osteoprotegerina/genética , Ligando RANK/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Australia , Dinamarca , Femenino , Genotipo , Humanos , Islandia , Modelos Lineales , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Sitios de Carácter Cuantitativo
12.
Ann Neurol ; 64(4): 402-9, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18991354

RESUMEN

OBJECTIVE: To find sequence variants that associate with the risk for ischemic stroke (IS), we performed a genome-wide association study. METHODS: We genotyped 1,661 Icelandic IS patients and 10,815 control subjects using the Infinium HumanHap300 chip (Illumina, San Diego, CA). A total of 310,881 single nucleotide polymorphisms (SNPs) were tested for association with IS, and the most significant signals were replicated in two large European IS sample sets (2,224 cases/2,583 control subjects). Two SNPs, rs2200733 and rs10033464, were tested further in additional European IS samples (2,327 patients and 16,760 control subjects). RESULTS: In the Icelandic samples and the two replication sets combined, rs2200733 associated significantly with cardioembolic stroke (CES) (odds ratio [OR], 1.54; p = 8.05 x 10(-9)). No other variants associated with IS or any of its subtypes. rs2200733 associated significantly with IS in all sample sets combined (OR, 1.26; p = 2.18 x 10(-10)), and both rs2200733 and its neighbour, rs10033464 associated strongly with CES (rs2200733: OR, 1.52; p = 5.8 x 10(-12); rs10033464: OR, 1.27; p = 6.1 x 10(-4)). Interestingly, rs2200733 also showed significant association to IS not classified as CES. INTERPRETATION: We discovered that variants previously shown to associate with atrial fibrillation (AF), rs2200733 and rs10033464, significantly associated with IS, with the strongest risk for CES. The association with noncardiogenic stroke is intriguing and suggests that atrial fibrillation may be underdiagnosed in patients presenting with stroke. This discovery may have implications for workup and treatment of IS.


Asunto(s)
Fibrilación Atrial/genética , Cromosomas Humanos Par 4 , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Accidente Cerebrovascular/genética , Fibrilación Atrial/complicaciones , Intervalos de Confianza , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Oportunidad Relativa , Fenotipo , Factores de Riesgo , Accidente Cerebrovascular/etiología , Población Blanca/genética
13.
Nat Genet ; 41(1): 15-7, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19079262

RESUMEN

In an extended genome-wide association study of bone mineral density among 6,865 Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new genome-wide significant loci. These are near the SOST gene at 17q21, the MARK3 gene at 14q32, the SP7 gene at 12q13 and the TNFRSF11A (RANK) gene at 18q21. Furthermore, nonsynonymous SNPs in the C17orf53, LRP4, ADAM19 and IBSP genes were suggestively associated with bone density.


Asunto(s)
Densidad Ósea/genética , Polimorfismo de Nucleótido Simple/genética , Secuencia de Bases , Cromosomas Humanos Par 17/genética , Femenino , Fracturas Óseas/complicaciones , Fracturas Óseas/genética , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Heridas y Lesiones/complicaciones , Heridas y Lesiones/genética
14.
Nat Genet ; 41(1): 18-24, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19079260

RESUMEN

Obesity results from the interaction of genetic and environmental factors. To search for sequence variants that affect variation in two common measures of obesity, weight and body mass index (BMI), both of which are highly heritable, we performed a genome-wide association (GWA) study with 305,846 SNPs typed in 25,344 Icelandic, 2,998 Dutch, 1,890 European Americans and 1,160 African American subjects and combined the results with previously published results from the Diabetes Genetics Initiative (DGI) on 3,024 Scandinavians. We selected 43 variants in 19 regions for follow-up in 5,586 Danish individuals and compared the results to a genome-wide study on obesity-related traits from the GIANT consortium. In total, 29 variants, some correlated, in 11 chromosomal regions reached a genome-wide significance threshold of P < 1.6 x 10(-7). This includes previously identified variants close to or in the FTO, MC4R, BDNF and SH2B1 genes, in addition to variants at seven loci not previously connected with obesity.


Asunto(s)
Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Obesidad/genética , Polimorfismo de Nucleótido Simple/genética , Sitios de Carácter Cuantitativo/genética , Secuencia de Bases , Índice de Masa Corporal , Peso Corporal/genética , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Regulación de la Expresión Génica , Genoma Humano/genética , Humanos , Obesidad/complicaciones , Carácter Cuantitativo Heredable
15.
Nat Genet ; 40(2): 217-24, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-18176561

RESUMEN

Recently, two common sequence variants on 9p21, tagged by rs10757278-G and rs10811661-T, were reported to be associated with coronary artery disease (CAD) and type 2 diabetes (T2D), respectively. We proceeded to further investigate the contributions of these variants to arterial diseases and T2D. Here we report that rs10757278-G is associated with, in addition to CAD, abdominal aortic aneurysm (AAA; odds ratio (OR) = 1.31, P = 1.2 x 10(-12)) and intracranial aneurysm (OR = 1.29, P = 2.5 x 10(-6)), but not with T2D. This variant is the first to be described that affects the risk of AAA and intracranial aneurysm in many populations. The association of rs10811661-T to T2D replicates in our samples, but the variant does not associate with any of the five arterial diseases examined. These findings extend our insight into the role of the sequence variant tagged by rs10757278-G and show that it is not confined to atherosclerotic diseases.


Asunto(s)
Aneurisma de la Aorta Abdominal/genética , Cromosomas Humanos Par 9 , Variación Genética , Aneurisma Intracraneal/genética , Infarto del Miocardio/genética , Adulto , Anciano , Alelos , Aneurisma de la Aorta Abdominal/epidemiología , Aneurisma de la Aorta Abdominal/fisiopatología , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Haplotipos , Homocigoto , Humanos , Aneurisma Intracraneal/fisiopatología , Funciones de Verosimilitud , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Infarto del Miocardio/fisiopatología , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Prevalencia , Probabilidad , Factores de Riesgo , Análisis de Secuencia de ADN , Población Blanca
16.
Science ; 316(5830): 1491-3, 2007 Jun 08.
Artículo en Inglés | MEDLINE | ID: mdl-17478679

RESUMEN

The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.


Asunto(s)
Cromosomas Humanos Par 9/genética , Predisposición Genética a la Enfermedad , Variación Genética , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Edad de Inicio , Anciano , Estudios de Casos y Controles , Mapeo Cromosómico , Enfermedad de la Arteria Coronaria/genética , Femenino , Genes p16 , Genotipo , Haplotipos , Heterocigoto , Homocigoto , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Factores de Riesgo
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