Utility of genome-wide association study findings: prostate cancer as a translational research paradigm.

Abstract:

:Genome-wide association studies have identified thousands of consistently replicated associations between genetic markers and complex disease risk, including cancers. Alone, these markers have limited utility in risk prediction; however, when several of these markers are used in combination, the predictive performance appears to be similar to that of many currently available clinical predictors. Despite this, there are divergent views regarding the clinical validity and utility of these genetic markers in risk prediction. There are valid concerns, thus providing a direction for new lines of research. Herein, we outline the debate and use the example of prostate cancer to highlight emerging evidence from studies that aim to address potential concerns. We also describe a translational framework that could be used to guide the development of a new generation of comprehensive research studies aimed at capitalizing on these exciting new discoveries.

journal_name

J Intern Med

authors

Turner AR,Kader AK,Xu J

doi

10.1111/j.1365-2796.2012.02522.x

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

344-52

issue

4

eissn

0954-6820

issn

1365-2796

journal_volume

271

pub_type

杂志文章
  • Unsuspected osteomyelitis is frequent in persistent diabetic foot ulcer and better diagnosed by MRI than by 18F-FDG PET or 99mTc-MOAB.

    abstract:AIM:Prevalence, optimal diagnostic approach and consequences of clinically unsuspected osteomyelitis in diabetic foot ulcers are unclear. Early diagnosis of this infection may be crucial to ensure correct management. METHODS:We conducted a prospective study in 20 diabetic patients with a chronic foot ulcer (>8 weeks) ...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1365-2796.2007.01877.x

    authors: Schwegler B,Stumpe KD,Weishaupt D,Strobel K,Spinas GA,von Schulthess GK,Hodler J,Böni T,Donath MY

    更新日期:2008-01-01 00:00:00

  • Prognosis following first-time myocardial infarction in patients with psoriasis: a Danish nationwide cohort study.

    abstract:OBJECTIVES:The magnitude of cardiovascular risk associated with psoriasis has been debated and the prognostic impact of psoriasis following myocardial infarction (MI) is unknown. Therefore, we investigated the risk of mortality and adverse cardiovascular events in patients with psoriasis following first-time MI. DESIG...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2011.02368.x

    authors: Ahlehoff O,Gislason GH,Lindhardsen J,Olesen JB,Charlot M,Skov L,Torp-Pedersen C,Hansen PR

    更新日期:2011-09-01 00:00:00

  • Prevalence and extent of subclinical atherosclerosis in patients with psoriasis.

    abstract:OBJECTIVE:Patients with psoriasis are prone to premature atherosclerosis and increased risk of cardiovascular disease events. However, the prevalence and extent of atherosclerosis in patients with psoriasis are unknown. DESIGN:A cross-sectional study. SETTING AND SUBJECTS:The prevalence and extent of coronary and car...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.12002

    authors: Yiu KH,Yeung CK,Zhao CT,Chan JC,Siu CW,Tam S,Wong CS,Yan GH,Yue WS,Khong PL,Chan HH,Tse HF

    更新日期:2013-03-01 00:00:00

  • Syndromes of orthostatic intolerance: a hidden danger.

    abstract::Orthostatic hypotension (OH) is a relatively common heterogenous and multifactorial disorder, traditionally classified as neurogenic (less common but often more severe) or nonneurogenic (more common, with no direct signs of autonomic nervous system disease). The different clinical variants of orthostatic intolerance i...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.12021

    authors: Fedorowski A,Melander O

    更新日期:2013-04-01 00:00:00

  • Potential role of insulin in the clearance of remnant lipoproteins in dysbetalipoproteinaemia.

    abstract::Dysbetalipoproteinaemia is a genetic disorder characterized by accumulation of lipoprotein remnant particles in the plasma, accelerated atherosclerosis, and the abnormal apoprotein E2. Uncontrolled diabetes mellitus can aggravate the hyperlipidaemia associated with this disorder, presumably by increasing triglyceride ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1991.tb00313.x

    authors: Duell PB,Bierman EL

    更新日期:1991-01-01 00:00:00

  • Angiotensin-converting enzyme gene polymorphism in relation to HLA-DR in sarcoidosis.

    abstract:OBJECTIVES:To investigate if an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene associates with HLA-DR alleles previously found to be of prognostic interest in Scandinavian sarcoidosis patients. This may contribute to characteristics associated with these HLA-DR alleles, such as a ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2002.00946.x

    authors: Planck A,Eklund A,Yamaguchi E,Grunewald J

    更新日期:2002-03-01 00:00:00

  • Mitochondrial medicine.

    abstract::In the mitochondrion, inherited defects have been identified in the electron transport system by which ATP is formed, as well as in the transport and metabolism of fuels. Clinical findings in diseases due to these defects can be related to abnormal accumulations of metabolic intermediates and inadequate or inefficient...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.1995.tb01218.x

    authors: Luft R,Landau BR

    更新日期:1995-11-01 00:00:00

  • Twenty-four hour ambulatory blood pressure in the population.

    abstract:OBJECTIVES:To establish a population-based 24-h ambulatory blood pressure (ABP) reference material with day/night mean BP calculated by standardized and true bedtimes. DESIGN:A cross-sectional study of 200 randomly selected subjects (20 men and 20 women in each 10-year age interval 20-70 years) in Linköping, Sweden. ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1996.322856000.x

    authors: Nyström F,Malmström O,Karlberg BE,Ohman KP

    更新日期:1996-11-01 00:00:00

  • A patient with osteomalacia as single presenting symptom of gluten-sensitive enteropathy.

    abstract::A 59-year-old male patient presented with invalidating osteomalacia of 2.5 years' duration. The osteomalacia was caused by severe malabsorption due to gluten-sensitive enteropathy (GSE). There were no other signs or symptoms of GSE in this patient. Clinical presentation with monosymptomatic osteomalacia is very unusua...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1992.tb00554.x

    authors: De Boer WA,Tytgat GN

    更新日期:1992-07-01 00:00:00

  • Neuronal cell replacement in Parkinson's disease.

    abstract::Transplantation of foetal dopamine neurons into the striatum of Parkinson's disease patients can provide restoration of the dopamine system and alleviate motor deficits. However, cellular replacement is associated with several problems. As with pharmacological treatments, cell therapy can lead to disabling abnormal in...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2009.02155.x

    authors: Hedlund E,Perlmann T

    更新日期:2009-10-01 00:00:00

  • Very low level of microalbuminuria is associated with increased risk of death in subjects with cardiovascular or cerebrovascular diseases.

    abstract:BACKGROUND:The original definition of microalbuminuria (20-200 microg min-1 or 15-150 microg min-1 overnight) is based on studies of patients with diabetes, in whom microalbuminuria was associated with increased risk of chronic renal failure. In a recent report an overnight urinary albumin excretion (UAE) above only 5 ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2006.01679.x

    authors: Klausen KP,Scharling H,Jensen JS

    更新日期:2006-09-01 00:00:00

  • Cigarette smoking and the risk of goitre and thyroid nodules amongst parous women.

    abstract:OBJECTIVES:To clarify the mechanisms by which smoking is associated to toxic and nontoxic goitre and thyroid nodules. DESIGN:Cohort study. SETTING:Sweden. SUBJECTS:A cohort of 874,507 parous women identified through the Medical Birth Registry, with smoking behaviour assessed through self-reported information at the ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2005.01523.x

    authors: Galanti MR,Granath F,Cnattingius S,Ekbom-Schnell A,Ekbom A

    更新日期:2005-09-01 00:00:00

  • Cardiac tamponade preceding adrenal insufficiency--an unusual presentation of Addison's disease: a report of two cases.

    abstract::Two cases of young healthy males presenting with cardiac tamponade and developing clinical adrenal insufficiency within a few weeks are described. On presentation they had a brisk inflammatory response with complement activation. Both had signs of subclinical hepatitis, and both have later shown evidence of thyroid in...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1997.tb00012.x

    authors: Torfoss D,von de Lippe E,Jacobsen D

    更新日期:1997-06-01 00:00:00

  • Cancer survival statistics for patients and healthcare professionals - a tutorial of real-world data analysis.

    abstract::Monitoring survival of cancer patients using data collected by population-based cancer registries is an important component of cancer control. In this setting, patient survival is often summarized using net survival, that is survival from cancer if there were no other possible causes of death. Although net survival is...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.13139

    authors: Eloranta S,Smedby KE,Dickman PW,Andersson TM

    更新日期:2021-01-01 00:00:00

  • The role of potassium in postural hypotension: electrolytes and neurohumoral factors in elderly hypertensive patients using diuretics.

    abstract:OBJECTIVE:To study the association between postural hypotension and (i) electrolyte levels and (ii) neurohumoral factors in elderly hypertensive patients using diuretics. DESIGN:Cross-sectional study of patients and controls. SETTING:The subjects were gathered from senior citizen clubs or they were referred to the st...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1995.tb01189.x

    authors: Luutonen S,Neuvonen P,Ruskoaho H,Räihä I,Rajala T,Antila K,Sourander L

    更新日期:1995-04-01 00:00:00

  • A multicentre, randomized, double-blind, placebo-controlled, 1-year study of bupropion SR for smoking cessation.

    abstract:BACKGROUND:Bupropion sustained release (bupropion SR) has been shown to increase smoking cessation success rates in the US studies. OBJECTIVE:To determine whether bupropion SR, in combination with counselling, is effective for smoking cessation in a multi-country study. METHODS:This randomized, double-blind, placebo-...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1046/j.1365-2796.2003.01185.x

    authors: Tønnesen P,Tonstad S,Hjalmarson A,Lebargy F,Van Spiegel PI,Hider A,Sweet R,Townsend J

    更新日期:2003-08-01 00:00:00

  • Familial hypercholesterolaemia-like syndrome with apolipoprotein E-7 associated with marked Achilles tendon xanthomas and coronary artery disease: a report of two cases.

    abstract::We observed two patients with hypercholesterolaemia and tendon xanthomas associated with apolipoprotein (apoE-7) E-7, a rare variant of the apoE isoforms. Both suffered from coronary artery disease and had undergone a coronary bypass operation. Their cholesterol levels were 268 and 310 mg dl-1, respectively. Both pati...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1994.tb01051.x

    authors: Ueyama Y,Nozaki S,Yanagi K,Hiraoka H,Nakagawa T,Sakai N,Jiao S,Yamashita S,Matsuzawa Y

    更新日期:1994-02-01 00:00:00

  • Eighty-year-old men without cardiovascular disease in the community of Malmö. Part I. Social and medical factors, with special reference to the lipoprotein pattern.

    abstract::A total of 1280 80-year-old men were invited to a medical examination to study common risk indicators for cardiovascular disease (CVD) in the elderly. From the pool of 811 responders (63.3%), all 122 individuals who fulfilled our inclusion criteria were assigned to one of four groups: (1) no CVD, non-smokers; (2) no C...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1990.tb00185.x

    authors: Stavenow L,Elmståhl S,Jerntorp P,Nilsson-Ehle P,Pessah-Rasmussen H,Galvard H,Hansen F,Samuelsson SM

    更新日期:1990-07-01 00:00:00

  • Left atrioventricular plane displacement determined by echocardiography: a clinically useful, independent predictor of mortality in patients with stable coronary artery disease.

    abstract:BACKGROUND:Echocardiographically determined left atrioventricular plane displacement (AVPD) is strongly related to prognosis in patients with chronic heart failure and in postmyocardial infarction patients. We aimed at exploring whether AVPD, unlike ejection fraction, is related to mortality in patients with stable cor...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2003.01218.x

    authors: Rydberg E,Erhardt L,Brand B,Willenheimer R

    更新日期:2003-11-01 00:00:00

  • Plasma lipoprotein particle concentrations in postmenopausal women with unstable coronary artery disease. Analysis of diagnostic accuracy using receiver operating characteristics.

    abstract:BACKGROUND:The contribution of plasma lipids to cardiovascular risk is usually evaluated by measuring plasma concentrations of total cholesterol, triglycerides and HDL cholesterol, and calculating LDL cholesterol concentration. We investigated plasma concentrations of apolipoproteins and lipoprotein particles in women ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2000.00567.x

    authors: Nielsen NE,Olsson AG,Swahn E

    更新日期:2000-01-01 00:00:00

  • Intermittent intravenous followed by intermittent oral 1 alpha(OH)D3 treatment of secondary hyperparathyroidism in uraemia.

    abstract:OBJECTIVES:To examine whether intermittent oral 1 alpha(OH)D3 treatment of patients on haemodialysis with secondary hyperparathyroidism (HPT) was able to maintain the marked suppression of PTH, which previously had been induced by an intermittent intravenous administration of 1 alpha(OH)D3. Simultaneously, the effect o...

    journal_title:Journal of internal medicine

    pub_type: 临床试验,杂志文章

    doi:10.1046/j.1365-2796.1996.469810000.x

    authors: Brandi L,Daugaard H,Egsmose C,Tvedegaard E,Kjaerulff Nielsen P,Olgaard K

    更新日期:1996-04-01 00:00:00

  • Cadmium exposure is accompanied by increased prevalence and future growth of atherosclerotic plaques in 64-year-old women.

    abstract:OBJECTIVES:There is currently widespread exposure to the toxic metal cadmium through the diet as well as through smoking, and it has been suggested that cadmium exposure may increase the risk of cardiovascular disease. Here we examined whether cadmium exposure is associated with prevalence and growth of atherosclerotic...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.2012.02578.x

    authors: Fagerberg B,Bergström G,Borén J,Barregard L

    更新日期:2012-12-01 00:00:00

  • Mediastinal tumour as the presenting manifestation of Wegener's granulomatosis.

    abstract::A 42-year-old man presented with a mediastinal tumour. On histological examination, tuberculosis was evoked, but no definitive conclusion could be drawn. The patient thereafter developed throat ulcerations and rapidly progressing renal insufficiency due to necrotizing glomerulonephritis. After reviewing the histologic...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/j.1365-2796.1990.tb00146.x

    authors: Boudes P

    更新日期:1990-03-01 00:00:00

  • Molecular/genetic determinants of repolarization and their modification by environmental stress.

    abstract::Although a variety of factors, inherited or environmental, can influence expression of ion channel proteins to impact on repolarization, that environment can affect genetic determinants of repolarization for intervals of varying duration is a concept that is not as generally appreciated as it should be. In the followi...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2796.2005.01592.x

    authors: Rosen MR,Cohen IS

    更新日期:2006-01-01 00:00:00

  • Normohomocysteinaemia and vitamin-treated hyperhomocysteinaemia are associated with similar risks of cardiovascular events in patients with premature peripheral arterial occlusive disease. A prospective cohort study.

    abstract:OBJECTIVES:Mild hyperhomocysteinaemia (HHC), fasting or after methionine loading, is associated with an increased risk and severity of atherosclerotic vascular disease. Post-methionine and fasting HHC are responsive to treatment with vitamin B, and folic acid. We performed a prospective cohort study amongst normohomocy...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.1999.00541.x

    authors: de Jong SC,Stehouwer CD,van den Berg M,Geurts TW,Bouter LM,Rauwerda JA

    更新日期:1999-07-01 00:00:00

  • Novel tuberculosis vaccination strategies based on understanding the immune response.

    abstract::The current tuberculosis (TB) vaccine bacillus Calmette-Guérin (BCG) fails to protect against adult pulmonary TB. Yet, its capacity to control miliary TB in newborn infants forms the basis for development of novel vaccine candidates. These either exploit genetic modification of BCG to create a viable replacement vacci...

    journal_title:Journal of internal medicine

    pub_type: 历史文章,杂志文章

    doi:10.1111/j.1365-2796.2010.02216.x

    authors: Kaufmann SH

    更新日期:2010-04-01 00:00:00

  • Treatments and rehabilitation in the acute and chronic state of traumatic brain injury.

    abstract::Traumatic brain injury (TBI) is a major cause of acquired disability globally, and effective treatment methods are scarce. Lately, there has been increasing recognition of the devastating impact of TBI resulting from sports and other recreational activities, ranging from primarily sport-related concussions (SRC) but a...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,评审

    doi:10.1111/joim.12900

    authors: Marklund N,Bellander BM,Godbolt AK,Levin H,McCrory P,Thelin EP

    更新日期:2019-06-01 00:00:00

  • Survival and trends of occurrence of left ventricular hypertrophy, gender differences, 1967-92: The Reykjavik Study.

    abstract:OBJECTIVE:We estimated the prevalence, incidence and risk factors of left ventricular hypertrophy (LVH) in a prospective cohort study of 26 489 participants. MATERIAL AND METHODS:The LVH was defined as Minnesota Code 310 on electrocardiogram (ECG). Everyone with this code at first visit was defined as a prevalence cas...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1046/j.1365-2796.2003.01111.x

    authors: Thrainsdottir IS,Hardarson T,Thorgeirsson G,Sigvaldason H,Sigfusson N

    更新日期:2003-04-01 00:00:00

  • Stroke event rates in anticoagulated patients with paroxysmal atrial fibrillation.

    abstract:AIMS:To test the hypothesis that stroke and systemic embolic events (SEE) in the stroke prevention using an oral thrombin inhibitor in atrial fibrillation (SPORTIF) III and V trials are different between paroxysmal and persistent atrial fibrillation (AF). METHODS:Data analysis from two cohorts of patients enrolled in ...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1365-2796.2007.01909.x

    authors: Lip GY,Frison L,Grind M,SPORTIF Investigators.

    更新日期:2008-07-01 00:00:00

  • Long-term changes in adipose tissue gene expression following bariatric surgery.

    abstract:OBJECTIVE:Patients undergoing bariatric surgery present long-term metabolic improvements and reduced type 2 diabetes risk, despite long-term weight regain. We hypothesized that part of these protective effects could be linked to altered gene expression in white adipose tissue (WAT). METHODS:Transcriptomic profiling by...

    journal_title:Journal of internal medicine

    pub_type: 杂志文章

    doi:10.1111/joim.13066

    authors: Kerr AG,Andersson DP,Rydén M,Arner P,Dahlman I

    更新日期:2020-08-01 00:00:00