Abstract:
:The International HapMap Project produced a genome-wide database of human genetic variation for use in genetic association studies of common diseases. The initial output of these studies has been overwhelming, with over 150 risk loci identified in studies of more than 60 common diseases and traits. These associations have suggested previously unsuspected etiologic pathways for common diseases that will be of use in identifying new therapeutic targets and developing targeted interventions based on genetically defined risk. Here we examine the development and application of the HapMap to genome-wide association (GWA) studies; present and future technologies for GWA research; current major efforts in GWA studies; successes and limitations of the GWA approach in identifying polymorphisms related to complex diseases; data release and privacy polices; use of these findings by clinicians, the public, and academic physicians; and sources of ongoing authoritative information on this rapidly evolving field.
journal_name
Annu Rev Medjournal_title
Annual review of medicineauthors
Manolio TA,Collins FSdoi
10.1146/annurev.med.60.061907.093117subject
Has Abstractpub_date
2009-01-01 00:00:00pages
443-56eissn
0066-4219issn
1545-326Xjournal_volume
60pub_type
杂志文章,评审abstract::Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by fibrofatty replacement of the ventricular myocardium, a high risk of ventricular arrhythmias, and progressive ventricular dysfunction. The clinical course is highly variable, and optimal approaches to management remai...
journal_title:Annual review of medicine
pub_type: 杂志文章,meta分析
doi:10.1146/annurev-med-041217-010932
更新日期:2019-01-27 00:00:00
abstract::Following the "finished," euchromatic, haploid human reference genome sequence, the rapid development of novel, faster, and cheaper sequencing technologies is making possible the era of personalized human genomics. Personal diploid human genome sequences have been generated, and each has contributed to our better unde...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev-med-051010-162644
更新日期:2012-01-01 00:00:00
abstract::Over the past several years a combination of diverse steps has culminated in a significant improvement in our ability to save ischemic extremities. Encompassing all phases of vascular surgery, these advances in diagnosis, therapy, and long-term management are outlined. These and future improvements hold promise for ex...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.38.020187.002013
更新日期:1987-01-01 00:00:00
abstract::Preeclampsia, a major cause of fetal and maternal morbidity and mortality, may be difficult to distinguish clinically from other hypertensive disorders of pregnancy. Signs helpful in its diagnosis include presentation during late gestation in a nullipara with edema and proteinuria, and one or more of the following: he...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.40.020189.001313
更新日期:1989-01-01 00:00:00
abstract::Cardiac late potentials are observed by using a high-resolution, computer-processed ECG that can detect very low-level signals not seen with standard ECG techniques. Numerous clinical studies have demonstrated that patients with low-level signals after the QRS complexes (late potentials) are at much higher risk of ven...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.43.020192.001105
更新日期:1992-01-01 00:00:00
abstract::Until recently, platelet production was the least understood aspect of blood cell development. This gap in our understanding resulted from the scarcity of megakaryocytes, the marrow precursor of blood platelets, and from confusion surrounding the cytokines and hormones that support their development. The recent clonin...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.48.1.1
更新日期:1997-01-01 00:00:00
abstract::Antiviral drugs are important in the management of seasonal influenza and critical to pandemic planning. Although several other classes of anti-influenza compounds exist, the neuraminidase (NA) inhibitors are currently the only option in most clinical settings. These drugs, zanamivir and oseltamivir, prevent the relea...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.59.061506.213121
更新日期:2008-01-01 00:00:00
abstract::Advances in our knowledge of the physiology of pain transmission and modulation have created new surgical options for the control of chronic pain. The pain modulation network can be activated by administration of spinal opiates or by electrical stimulation of the nervous system with transcutaneous, peripheral nerve, s...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.44.020193.001431
更新日期:1993-01-01 00:00:00
abstract::Diastolic dysfunction is an important cause of the clinical syndrome of congestive heart failure. Traditionally, the syndrome of pulmonary congestion due to the elevation of left heart filling pressure has been attributed to the depressed ability of the heart to eject blood during systole, with a secondary increase in...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.42.020191.002211
更新日期:1991-01-01 00:00:00
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journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.32.020181.003055
更新日期:1981-01-01 00:00:00
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journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.45.1.235
更新日期:1994-01-01 00:00:00
abstract::Allergic bronchopulmonary aspergillosis (ABPA) is a syndrome seen in patients with asthma and cystic fibrosis. It is characterized by chronic colonization of the airways with a ubiquitous fungus, Aspergillus fumigatus. The clinical expression of ABPA results from the complex interaction of chronic colonization of the ...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.50.1.303
更新日期:1999-01-01 00:00:00
abstract::This chapter reviews the biology of gastroesophageal reflux disease, relating pathophysiology to medical and surgical therapy. Various definitions of the disease are presented and workable criteria are developed to identify patients with the disease. The central importance of the lower esophageal high-pressure zone as...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.50.1.469
更新日期:1999-01-01 00:00:00
abstract::Alzheimer's disease (AD) is unique in medicine in that millions of people suffer from what appears to be the same form of disease, and unlike most other late-onset diseases, the genetic etiologies have been well identified. Three early onset forms of AD inherited as autosomal dominant traits account for less than 2% o...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.47.1.387
更新日期:1996-01-01 00:00:00
abstract::The neuropeptide substance P modulates the activities of a number of different leukocytes that characterize both acute and delayed inflammatory responses. Substance P may play a role in the pathogenesis of such diverse diseases as arthritis, asthma, and inflammatory bowel disease. ...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.40.020189.002013
更新日期:1989-01-01 00:00:00
abstract::Acute pancreatitis is not the cause but may be a complication of chronic pancreatitis. Different forms of chronic pancreatitis are described. The most frequent type in all climates, chronic calcifying pancreatitis, has different causes but similar pathological changes. It is a lithiasis in which a new family of molecu...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.40.020189.002321
更新日期:1989-01-01 00:00:00
abstract::In 2012, a zoonotic coronavirus was identified as the causative agent of Middle East respiratory syndrome and was named MERS coronavirus (MERS-CoV). As of August 11, 2016, the virus has infected 1,791 patients, with a mortality rate of 35.6%. Although MERS-CoV generally causes subclinical or mild disease, infection ca...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev-med-051215-031152
更新日期:2017-01-14 00:00:00
abstract::Solid tumors derived from epithelial tissues (carcinomas) are responsible for 90% of all new cancers in Europe, and the main four tumor entities are breast, prostate, lung, and colon cancer. Present tumor staging is mainly based on local tumor extension, metastatic lymph node involvement, and evidence of overt distant...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev-med-062310-094219
更新日期:2012-01-01 00:00:00
abstract::The genomic era is changing the understanding of cancer, although translation of the vast amount of data available into decision-making algorithms is far from reality. Molecular profiling of hepatocellular carcinoma (HCC), the most common cause of death among cirrhotic patients and a fast-growing malignancy in Western...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
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更新日期:2010-01-01 00:00:00
abstract::Implantable cardiac pacing and defibrillation devices are effective and commonly used therapies for patients with cardiac rhythm disorders. Because device implantation is not easily reversible, as well as the high healthcare costs inherent in device use, a clear understanding of the clinical benefits relative to costs...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev-med-043015-123540
更新日期:2017-01-14 00:00:00
abstract::Most ventricular tachycardias encountered in clinical practice occur in patients who have structural heart disease. Idiopathic ventricular tachycardia refers to those arrhythmias that occur in patients without structural heart disease, metabolic/electrolyte abnormalities, or the long QT syndrome. Three commonly recogn...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.50.1.159
更新日期:1999-01-01 00:00:00
abstract::Invasive electrophysiologic studies are used to guide drug and non-pharmacologic therapy, including surgery, in patients with ventricular tachycardia. We discuss the indications, methods, and results of electrophysiologic studies in these patients. Both catheter and intraoperative studies are described. This approach ...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.37.020186.000245
更新日期:1986-01-01 00:00:00
abstract::Collagenous and lymphocytic colitis are newly recognized causes of chronic watery diarrhea that typically affect middle-aged patients. Although endoscopic studies are normal, inflammatory changes and (in the case of collagenous colitis) collagen deposition occur histologically in the colonic mucosa. The pathogenesis o...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.45.1.105
更新日期:1994-01-01 00:00:00
abstract::Hypertensive disorders (gestational hypertension, preeclampsia, chronic hypertension, superimposed preeclampsia) are the most common medical complications of pregnancy and constitute a major cause of maternal and perinatal morbidity and mortality. Prediction of those women destined to develop preeclampsia remains elus...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.48.1.115
更新日期:1997-01-01 00:00:00
abstract::Precision medicine was conceptualized on the strength of genomic sequence analysis. High-throughput functional metrics have enhanced sequence interpretation and clinical precision. These technologies include metabolomics, magnetic resonance imaging, and I rhythm (cardiac monitoring), among others. These technologies a...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
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更新日期:2018-01-29 00:00:00
abstract::Breast cancers present as a spectrum of neoplasms. The natural histories of the neoplasms are tied to the biological properties of the neoplastic cells that compose them. We review the histological, cytological, kinetic, and other parameters that best characterize the clinical biology of breast cancer. ...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.me.39.020188.002321
更新日期:1988-01-01 00:00:00
abstract::Highly specialized mechanisms are required for transporting cobalamin (vitamin B12) into and out of mammalian cells. This review describes the key role of the cobalamin-binding proteins in meeting the stringent requirements for transport of this essential nutrient. Also summarized are the various defects capable of im...
journal_title:Annual review of medicine
pub_type: 杂志文章
doi:10.1146/annurev.me.36.020185.000521
更新日期:1985-01-01 00:00:00
abstract::Genetic studies of autosomal dominant Alzheimer's disease (AD) revealed that β-amyloid is central to disease pathogenesis. However, amyloid-targeted therapies have generally failed to slow progression in patients with symptomatic disease. This result suggests a transition from an early amyloid-dependent phase to a lat...
journal_title:Annual review of medicine
pub_type: 杂志文章
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更新日期:2021-01-27 00:00:00
abstract::Pharmacogenetics deals with inherited differences in the response to drugs. The best-recognized examples are genetic polymorphisms of drug-metabolizing enzymes, which affect about 30% of all drugs. Loss of function of thiopurine S-methyltransferase (TPMT) results in severe and life-threatening hematopoietic toxicity i...
journal_title:Annual review of medicine
pub_type: 杂志文章,评审
doi:10.1146/annurev.med.56.082103.104724
更新日期:2006-01-01 00:00:00
abstract::The most significant complication of elevated parathyroid hormone (PTH) levels in uremia is the development of osteitis fibrosa cystica. The hormone also appears to play a role in soft-tissue and organ calcification, metabolic abnormalities (glucose, lipids), and electroencephalographic changes seen in uremic patients...
journal_title:Annual review of medicine
pub_type: 杂志文章
doi:10.1146/annurev.me.37.020186.000443
更新日期:1986-01-01 00:00:00