Normative equations for central augmentation index:Assessment of inter-population applicability and how it could be improved

Common reference values of arterial stiffness indices could be effective screening tool in detecting vascular phenotypes at risk. However, populations of the same ethnicity may differ in vascular phenotype due to different environmental pressure. We examined applicability of normative equations for central augmentation index (cAIx) derived from Danish population with low cardiovascular risk on the corresponding Croatian population from the Mediterranean area. Disagreement between measured and predicted cAIx was assessed by Bland-Altman analysis. Both, cAIx-age distribution and normative equation fitted on Croatian data were highly comparable to Danish low-risk sample. Contrarily, Bland-Altman analysis of cAIx disagreement revealed a curvilinear deviation from the line of full agreement indicating that the equations were not equally applicable across age ranges. Stratification of individual data into age decades eliminated curvilinearity in all but the 30–39 (men) and 40–49 (women) decades. In other decades, linear disagreement independent of age persisted indicating that cAIx determinants other than age were not envisaged/compensated for by proposed equations. Therefore, established normative equations are equally applicable to both Nordic and Mediterranean populations but are of limited use. If designed for narrower age ranges, the equations’ sensitivity in detecting vascular phenotypes at risk and applicability to different populations could be improved

Evaluation of genetic susceptibility to childhood allergy and asthma in an African American urban population

<p>Abstract</p> <p>Background</p> <p>Asthma and allergy represent complex phenotypes, which disproportionately burden ethnic minorities in the United States. Strong evidence for genomic factors predisposing subjects to asthma/allergy is available. However, methods to utilize this information to identify high risk groups are variable and replication of genetic associations in African Americans is warranted.</p> <p>Methods</p> <p>We evaluated 41 single nucleotide polymorphisms (SNP) and a deletion corresponding to 11 genes demonstrating association with asthma in the literature, for association with asthma, atopy, testing positive for food allergens, eosinophilia, and total serum IgE among 141 African American children living in Detroit, Michigan. Independent SNP and haplotype associations were investigated for association with each trait, and subsequently assessed in concert using a genetic risk score (GRS).</p> <p>Results</p> <p>Statistically significant associations with asthma were observed for SNPs in <it>GSTM1, MS4A2</it>, and <it>GSTP1 </it>genes, after correction for multiple testing. Chromosome 11 haplotype CTACGAGGCC (corresponding to <it>MS4A2 </it>rs574700, rs1441586, rs556917, rs502581, rs502419 and <it>GSTP1 </it>rs6591256, rs17593068, rs1695, rs1871042, rs947895) was associated with a nearly five-fold increase in the odds of asthma (Odds Ratio (OR) = 4.8, <it>p </it>= 0.007). The GRS was significantly associated with a higher odds of asthma (OR = 1.61, 95% Confidence Interval = 1.21, 2.13; <it>p </it>= 0.001).</p> <p>Conclusions</p> <p>Variation in genes associated with asthma in predominantly non-African ethnic groups contributed to increased odds of asthma in this African American study population. Evaluating all significant variants in concert helped to identify the highest risk subset of this group.</p

Association Between Chromosome 9p21 Variants and the Ankle-Brachial Index Identified by a Meta-Analysis of 21 Genome-Wide Association Studies

Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts

Molecular markers for establishing distinctness in vegetatively propagated crops: a case study in grapevine

10 páginas, 1 figura, 4 tablas.Distinctness, uniformity and stability (DUS) testing of varieties is usually required to apply for Plant Breeders’ Rights. This exam is currently carried out using morphological traits, where the establishment of distinctness through a minimum distance is the key issue. In this study, the possibility of using microsatellite markers for establishing the minimum distance in a vegetatively propagated crop (grapevine) has been evaluated. A collection of 991 accessions have been studied with nine microsatellite markers and pair-wise compared, and the highest intra-variety distance and the lowest inter-variety distance determined. The collection included 489 different genotypes, and synonyms and sports. Average values for number of alleles per locus (19), Polymorphic Information Content (0.764) and heterozygosities observed (0.773) and expected (0.785) indicated the high level of polymorphism existing in grapevine. The maximum intra-variety variability found was one allele between two accessions of the same variety, of a total of 3,171 pair-wise comparisons. The minimum inter-variety variability found was two alleles between two pairs of varieties, of a total of 119,316 pair-wise comparisons. In base to these results, the minimum distance required to set distinctness in grapevine with the nine microsatellite markers used could be established in two alleles. General rules for the use of the system as a support for establishing distinctness in vegetatively propagated crops are discussed.This work was financially supported by the projects RF99-009 and VIN01-025 (INIA, Agriculture Ministry of Spain). M. D. Vélez was funded by a predoctoral fellowship from IMIDRA.Peer reviewe