We report a genome-wide association study to iron status. We identify an association of SNPs in TPMRSS6 to serum iron (rs855791, combined P = 1.5×10−20), transferrin saturation (combined P = 2.2×10−23), and erythrocyte mean cell volume (MCV, combined P = 1.1×10−10). We also find suggestive evidence of association with blood haemoglobin levels (combined P = 5.3×10−7). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis.

Hair morphology is highly differentiated between populations and among people of European ancestry. Whereas hair morphology in East Asian populations has been studied extensively, relatively little is known about the genetics of this trait in Europeans. We performed a genome-wide association scan for hair morphology (straight, wavy, curly) in three Australian samples of European descent. All three samples showed evidence of association implicating the Trichohyalin gene (TCHH), which is expressed in the developing inner root sheath of the hair follicle, and explaining approximately 6% of variance (p=1.5x10(-31)). These variants are at their highest frequency in Northern Europeans, paralleling the distribution of the straight-hair EDAR variant in Asian populations.

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The perceived taste intensities of quinine HCl, caffeine, sucrose octaacetate (SOA) and propylthiouracil (PROP) solutions were examined in 1457 twins and their siblings. Previous heritability modeling of these bitter stimuli indicated a common genetic factor for quinine, caffeine and SOA (22–28%), as well as separate specific genetic factors for PROP (72%) and quinine (15%). To identify the genes involved, we performed a genome-wide association study with the same sample as the modeling analysis, genotyped for approximately 610 000 single-nucleotide polymorphisms (SNPs). For caffeine and SOA, no SNP association reached a genome-wide statistical criterion. For PROP, the peak association was within TAS2R38 (rs713598, A49P, P = 1.6 × 10−104), which accounted for 45.9% of the trait variance. For quinine, the peak association was centered in a region that contains bitter receptor as well as salivary protein genes and explained 5.8% of the trait variance (TAS2R19, rs10772420, R299C, P = 1.8 × 10−15). We confirmed this association in a replication sample of twins of similar ancestry (P = 0.00001). The specific genetic factor for the perceived intensity of PROP was identified as the gene previously implicated in this trait (TAS2R38). For quinine, one or more bitter receptor or salivary proline-rich protein genes on chromosome 12 have alleles which affect its perception but tight linkage among very similar genes precludes the identification of a single causal genetic variant.

BackgroundImproving hand hygiene among health care workers (HCWs) is the single most effective intervention to reduce health care associated infections in hospitals. Understanding the cognitive determinants of hand hygiene decisions for HCWs with the greatest patient contact (nurses) is essential to improve compliance. The aim of this study was to explore hospital-based nurses’ beliefs associated with performing hand hygiene guided by the World Health Organization’s (WHO) 5 critical moments. Using the belief-base framework of the Theory of Planned Behaviour, we examined attitudinal, normative, and control beliefs underpinning nurses’ decisions to perform hand hygiene according to the recently implemented national guidelines.MethodsThematic content analysis of qualitative data from focus group discussions with hospital-based registered nurses from 5 wards across 3 hospitals in Queensland, Australia.ResultsImportant advantages (protection of patient and self), disadvantages (time, hand damage), referents (supportive: patients, colleagues; unsupportive: some doctors), barriers (being too busy, emergency situations), and facilitators (accessibility of sinks/products, training, reminders) were identified. There was some equivocation regarding the relative importance of hand washing following contact with patient surroundings.ConclusionsThe belief base of the theory of planned behaviour provided a useful framework to explore systematically the underlying beliefs of nurses’ hand hygiene decisions according to the 5 critical moments, allowing comparisons with previous belief studies. A commitment to improve nurses’ hand hygiene practice across the 5 moments should focus on individual strategies to combat distraction from other duties, peer-based initiatives to foster a sense of shared responsibility, and management-driven solutions to tackle staffing and resource issues. Hand hygiene following touching a patient’s surroundings continues to be reported as the most neglected opportunity for compliance.