Genetic modifiers of the severity of sickle cell anemia identified through a genome‐wide association study

We conducted a genome‐wide association study (GWAS) to discover single nucleotide polymorphisms (SNPs) associated with the severity of sickle cell anemia in 1,265 patients with either “severe” or “mild” disease based on a network model of disease severity. We analyzed data using single SNP analysis and a novel SNP set enrichment analysis (SSEA) developed to discover clusters of associated SNPs. Single SNP analysis discovered 40 SNPs that were strongly associated with sickle cell severity (odds for association >1,000); of the 32 that we could analyze in an independent set of 163 patients, five replicated, eight showed consistent effects although failed to reach statistical significance, whereas 19 did not show any convincing association. Among the replicated associations are SNPs in KCNK6 a K⁺ channel gene. SSEA identified 27 genes with a strong enrichment of significant SNPs (P < 10^?6); 20 were replicated with varying degrees of confidence. Among the novel findings identified by SSEA is the telomere length regulator gene TNKS. These studies are the first to use GWAS to understand the genetic diversity that accounts the phenotypic heterogeneity sickle cell anemia as estimated by an integrated model of severity. Additional validation, resequencing, and functional studies to understand the biology and reveal mechanisms by which candidate genes might have their effects are the future goals of this work. Am. J. Hematol., 2010. © 2009 Wiley‐Liss, Inc.     

Comparative evaluation of three commercial identification systems using common and rare bloodstream yeast isolates

The commercial yeast identification systems API ID32C, Auxacolor, and Vitek were evaluated using 251 molecularly identified bloodstream isolates and 2 reference strains, representing a total of 35 species (6 common and 29 rare). Correct identification rates were higher for common species (Auxacolor, 95%; API ID32C, 94%; Vitek, 92%) than for rare species (Auxacolor, 43%; API ID32C, 56%; Vitek, 64%). All systems performed equally among the former, and Vitek performed best among the latter.     

Vitamin D downregulates the IL-23 receptor pathway in human mucosal group 3 innate lymphoid cells

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The iMPROVE Study; Design,Dietary Patterns,and Development of a Lifestyle Index in Overweight and Obese Greek Adults

Background: Dietary and lifestyle habits constitute a significant contributing factor in the formation of anthropometric and biochemical characteristics of overweight and obese populations. The iMPROVE study recruited overweight and obese Greek adults and investigated the effect of gene–diet interactions on weight management when adhering to a six-month, randomized nutritional trial including two hypocaloric diets of different macronutrient content. The present paper displays the design of the intervention and the baseline findings of the participants’ dietary habits and their baseline anthropometric and biochemical characteristics. Methods: Baseline available data for 202 participants were analyzed and patterns were extracted via principal component analysis (PCA) on 69-item Food-Frequency Questionnaires (FFQ). Relationships with indices at baseline were investigated by multivariate linear regressions. A Lifestyle Index of five variables was further constructed. Results: PCA provided 5 dietary patterns. The “Mixed” pattern displayed positive associations with logBMI and logVisceral fat, whereas the “Traditional, vegetarian-alike” pattern was nominally, negatively associated with body and visceral fat, but positively associated with HDL levels. The Lifestyle Index displayed protective effects in the formation of logBMI and logGlucose levels. Conclusions: Dietary patterns and a Lifestyle Index in overweight and obese, Greek adults highlighted associations between diet, lifestyle, and anthropometric and biochemical indices.     

Comparison of safety and immunogenicity of adw and ayw hepatitis b vaccines

The safety and immunogenicity of adw and ayw hepatitis B vaccines were compared in a double-blind randomized trial in Greek Air Force recruits. One hundred and ten out of 240 eligible nonimmune recruits were randomly selected and allocated to thc two vaccine treatment groups. Two 20-m?g doses 1 month apart and a third 20-m?g booster dose, at 6 months, were given intramuscularly. Severe local or general side effects were not observed. The frequency of mild side effects (local discomfort or pain, fever less than 37.5°C, and malaise) was slightly higher with the adw than with the ayw vaccine. Antibodies developed earlier and in higher titers in adw vaccinees. However, after the booster dose all ayw and all but one adw vaccinees developed anti-HBs in almost similar titers. It is concluded that both vaccines are equally safe and immunogenic after administration of two doses at a 1-month interval followed by a booster dose at 6 months.     

Seroepidemiology of hepatitis A among Greek children indicates that the virus is still prevalent: Implications for universal vaccination

A national cross‐sectional seroprevalence survey was conducted in order to evaluate the current seroepidemiology of hepatitis A among 1,383 children, aged 0–14 years, residing in Greece. Stratification of the study population was conducted according to age and area of residence. Sera from study participants were tested for the presence of anti‐HAV IgG antibodies. Immigrant children, as well as children residing in rural areas, had lower immunization rates. Among unvaccinated children, the seroprevalence rate of anti‐HAV was 17.1%. Nationality was shown to have a marginally significant effect since non‐immunized immigrant children had a higher seroprevalence rate (22.4% vs. 15.9%, OR = 1.52, P = 0.064). Significant differences between geographic areas for both vaccination coverage and natural immunity were observed. The study findings indicate that hepatitis A is prevalent in Greece and therefore universal infant hepatitis A immunization should be implemented. J. Med. Virol. 81:582–587, 2009 © 2009 Wiley‐Liss, Inc.