Optimal wound care management in hidradenitis suppurativa.

Introduction: Hidradenitis suppurativa (HS) presents the problem of a chronic, relapsing, painful, draining wound. There is a myriad of HS wound care management strategies implemented by clinicians and patients centered around which dressings to use. Many factors affect which HS wound care dressing is the most appropriate to use such as the type of HS wound, cost, ease of application, patient comfort, absorbency and odor management among many others.

Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey.

The distribution of lipoprotein(a) [Lp(a)] levels can differ dramatically across diverse racial/ethnic populations. The extent to which genetic variation in LPA can explain these differences is not fully understood. To explore this, 19 LPA tagSNPs were genotyped in 7,159 participants from the Third National Health and Nutrition Examination Survey (NHANES III).

Integrating host genomics with surveillance for invasive bacterial diseases.

We tested the feasibility of linking Active Bacterial Core surveillance, a prospective, population-based surveillance system for invasive bacterial disease, to a newborn dried blood spot (nDBS) repository. Using nDBS specimens, we resequenced CD46, putative host gene receptor for Neisseria meningitidis, and identified variants associated with susceptibility to this disease.

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk.

The genetic factors associated with carotid artery disease (CAAD) are not fully known. Because of its role in lipid metabolism, we hypothesized that common genetic variation in the very low density lipoprotein receptor (VLDLR) gene is associated with severe CAAD (>80% stenosis), body mass index (BMI), and lipid traits in humans. VLDLR was resequenced for variation discovery in 92 subjects, and single nucleotide polymorphisms (tagSNPs) were chosen for genotyping in a larger cohort (n = 1,027).

Genetic variation is associated with C-reactive protein levels in the Third National Health and Nutrition Examination Survey.

Background: Increased serum C-reactive protein (CRP) is an independent risk factor for cardiovascular disease. Previous studies have suggested that genetic variation within the CRP gene is associated with serum CRP.

Methods And Results: We genotyped CRP genetic variants in 7159 individuals from the Third National Health and Nutrition Examination Survey (NHANES III).

Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease.

Background: Chronic progressive lung disease is the most serious complication of cystic fibrosis (CF). Glutathione plays an important role in the protection of the CF lung against oxidant-induced lung injury.

Objectives: We hypothesized that a polymorphism in a novel candidate gene that regulates glutathione synthesis might influence CF lung disease.

Allelic spectrum of the natural variation in CRP.

With the recent completion of the International HapMap Project, many tools are in hand for genetic association studies seeking to test the common variant/common disease hypothesis. In contrast, very few tools and resources are in place for genotype-phenotype studies hypothesizing that rare variation has a large impact on the phenotype of interest. To create these tools for rare variant/common disease studies, much interest is being generated towards investing in re-sequencing either large sample sizes of random chromosomes or smaller sample sizes of patients with extreme phenotypes.