GENETICS/GENOMICS
A JAMA THEME ISSUE
Edited by Catherine D. DeAngelis, MD, MPH, Phil B. Fontanarosa, MD, MBA, and Boris Pasche, MD, PhD
PON1 Genotypes, Functional Activity, and CVD Risk
Paraoxonase 1 (PON1) is reported to have antioxidant and cardioprotective properties. In patients undergoing diagnostic coronary angiography, Bhattacharyya and colleagues investigated the relationship between PON1 genotypes and their functional activity with measures of oxidative stress and CVD risk. The authors found that PON1 gene polymorphisms were associated with low levels of PON1 activity, increased levels of markers of oxidative stress, and increased risks of prevalent CVD and adverse cardiac events.
(SEE ARTICLE)
LRP5 and LRP6 Gene Polymorphisms and Osteoporosis
In a prospective multicenter study involving 37 534 European patients, van Meurs and colleagues examined the association of 2 common variants of the low-density lipoprotein receptor–related protein 5 (LRP5) gene and 1 variant of the LRP6 gene with bone mineral density (BMD) and fracture risk. The authors found that the 2 LRP5 gene variants were consistently associated with BMD and fracture risk.
(SEE ARTICLE)
Genetics, Environment, and PTSD
Binder and colleagues investigated the potential interaction of the stress-related gene FKBP5 with environmental factors including child abuse and other trauma exposure in the expression of adult posttraumatic stress disorder (PTSD) symptoms. The authors identified 4 single-nucleotide polymorphisms of FKBP5 that interacted with the severity of child abuse and predicted the level of PTSD symptoms in adults.
(SEE ARTICLE)
Gene Variants and Deep Vein Thrombosis
In analyses of pooled DNA samples from 3 case-control studies of unrelated patients with a first deep vein thrombosis (DVT), Bezemer and colleagues (SEE ARTICLE) identified single-nucleotide polymorphisms (SNPs) in several genes that were consistently and modestly associated with DVT risk. In an editorial, Bovill (SEE ARTICLE) discusses advances in genotyping and data analysis that will facilitate clinically relevant risk prediction.
PET/CT Screening in Li-Fraumeni Syndrome
Persons with Li-Fraumeni syndrome (LFS) are at risk of diverse and early onset malignancies; thus, effective screening strategies are needed. Masciari and colleagues performed whole-body fluorodeoxyglucose F18–PET/CT in 15 asymptomatic individuals from LFS kindreds and identified asymptomatic cancers in 3 persons.
(SEE ARTICLE)
CLINICIAN'S CORNER
Genomic Medicine and Common Chronic Adult Diseases
In a systematic review, Scheuner and colleagues examine what is known about the current status of genetic health services for common adult-onset diseases and the barriers impeding the translation of basic and clinical science advances in genomics into practice.
(SEE ARTICLE)
A Piece of My Mind
"[My father] told me he had no fear of death, only of a painful death."
(SEE ARTICLE)
Medical News & Perspectives
A new screening tool helps researchers identify genes for cancer cells' survival.
(SEE ARTICLE)
Genome-wide Association Studies
Genome-wide association studies identify common genetic differences among individuals and relate these variations to health and disease.
(SEE ARTICLE)
Epigenetics in Medicine
The role of modifications of DNA or associated proteins that regulate gene expression in cancer, aging, and therapeutics.
(SEE ARTICLE)
Commentaries
Progress in personalized medicine
(SEE ARTICLE)
Direct-to-consumer genetic testing
(SEE ARTICLE)
Genetics resources on the Internet
(SEE ARTICLE)
Benefits of centralized tissue banks
(SEE ARTICLE)
Editorial
Genetics and genomics for clinicians
(SEE ARTICLE)
JAMA Patient Page
For your patients: Information about genetics: the basics.
(SEE ARTICLE)
