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Idiopathic pulmonary fibrosis (IPF) affects lung parenchyma with progressing fibrosis. In this study, we aimed to replicate MUC5B rs35705950 variants and determine new plausible candidate variants for IPF among four different European populations. We genotyped 26 IPF candidate loci in 165 IPF patients from four European countries, such as Czech Republic (n = 41), Germany (n = 33), Greece (n = 40), France (n = 51), and performed association study comparing observed variant distribution with that obtained in a genetically similar Czech healthy control population (n = 96) described in our earlier data report. A highly significant association for a promoter variant (rs35705950) of mucin encoding MUC5B gene was observed in all IPF populations, individually and combined [odds ratio (95% confidence interval); p-value as 5.23 (8.94-3.06); 1.80 × 10(-11)]. Another non-coding variant, rs7934606 in MUC2 was significant among German patients [2.85 (5.05-1.60); 4.03 × 10(-4)] and combined European IPF cases [2.18 (3.16-1.50); 3.73 × 10(-5)]. The network analysis for these variants indicated gene-gene and gene-phenotype interactions in IPF and lung biology. With replication of MUC5B rs35705950 previously reported in U.S. populations of European descent and indicating other plausible polymorphic variants relevant for IPF, we provide additional reference information for future extended functional and population studies aimed, ideally with inclusion of clinical parameters, at identification of IPF genetic markers.

Motor development—traditionally described in terms of age-related stages—is typically studied in the laboratory with participants of Western European descent. Cross-cultural studies typically focus on group differences in age-related stages relative to Western norms. We adopted a less traditional approach: We observed 5-month-olds and their mothers from six cultural groups around the world during 1 hr at home while they engaged in natural daily activities. We examined group differences in infants’ sitting proficiency, everyday opportunities to practice sitting, the surfaces on which sitting took place, and mothers’ proximity to sitting infants. Infants had opportunities to practice sitting in varied contexts—including ground, infant chairs, and raised surfaces. Proficiency varied considerably within and between cultural groups: 64% of the sample sat only with support from mother or furniture and 36% sat independently. Some infants sat unsupported for 20+ min, in some cases so securely that mothers moved beyond arms’ reach of their infants even while infants sat on raised surfaces. Our observations of infant sitting across cultures provide new insights into the striking range of ability, varied opportunities for practice, and contextual factors that influence the proficiency of infant motor skills.

Aim: To investigate prevalence, time trends and factors associated with rhinitis and rhinoconjunctivitis not related to acute infections in New Zealand. Methods: The International Study of Asthma and Allergies in Childhood (ISAAC) surveyed children aged 6–7 and 13–14 years for symptoms of these conditions. Five New Zealand centres were surveyed on two occasions (Phase One and Phase Three) 8–10 years apart. In Phase Three, questions were included on environmental factors, which might be associated with rhinoconjunctivitis. We report findings related to symptoms of rhinoconjunctivitis among 24 190 New Zealand children. Results: Symptoms of rhinoconjunctivitis in the past year were reported in 11.4% of 6- to 7-year-old children and 18% of 13- to 14-year-old adolescents in Phase Three compared with 9.5 and 19.1%, respectively, in Phase One. Severe symptoms of rhinoconjunctivitis were reported in 0.5% of children and 0.8% of adolescents. Current symptoms were more common in males at 6–7 years and in females of 13–14 years, and Māori and Pacific Island ethnic groups had higher prevalence compared with those of European descent, especially in the older age group. For immigrant children, there was a very strong positive relationship between symptoms and length of time resident in New Zealand, supporting the probable importance of environmental factors. A positive association was found between symptoms and use of paracetamol in infancy or in the last year, and weaker associations were noted for antibiotic use, exercise, and regular pasta ingestion. Conclusions: Further study of environmental factors is recommended.

Little research exists on the body mass index (BMI) values of nineteenth-century Americans of European descent. Examination of a new body mass index data set and robust statistical analysis yields the following conclusion: between 1860 and 1880, BMIs decreased across the distribution; however, after 1880, BMIs in the highest quantiles increased, while those in lower BMI quantiles continued to decrease. Late nineteenth- and early twentieth-century white BMIs increased at older ages in higher quantiles and decreased in lower quantiles, indicating significant net biological disparity by age. During industrialization, white BMIs were lower in Kentucky, Missouri, and urban Philadelphia.

INTRODUCTION: Dupuytren's disease (DD) causes progressive digital flexion contracture and is more common in men of European descent. METHODS: Orthopaedic and plastic surgeons in 12 European countries (the Czech Republic, Denmark, Finland, France, Germany, Hungary, Italy, The Netherlands, Poland, Spain, Sweden and the UK) with3 and30 years experience reviewed the medical charts of five consecutive patients they had treated surgically for DD in 2008. Descriptive statistics are reported. RESULTS: In total, 3,357 patient charts were reviewed. Mean (standard deviation) patient age was 61.9 (10.2) years; 81% were men. At the time of the procedure, 11% of patients were at Tubiana stage Ia (0-20° total flexion); 30%, stage Ib (21-45°); 34%, stage II (46-90°); 17%, stage III (91-135°); and 5%, stage IV (135°). Percutaneous needle fasciotomy was performed in 10%, fasciotomy in 13%, fasciectomy in 69% and dermofasciectomy (DF) in 6% of patients. After surgery, fingers improved a mean of 1.9 Tubiana stages, and 54% of patients had no nodules or contracture. The rate of reported complications during the procedure was 4% overall (11% in patients undergoing DF). The most common postoperative complications reported were haematoma (8%), wound healing complications (6%) and pain (6%). No postoperative complications were reported in 77% of patients. CONCLUSIONS: In this European study of more than 3,000 patients with DD, most patients were diagnosed at Tubiana stage I or II, the majority received fasciectomy and more than half had no nodules or contracture remaining after surgery. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s12570-012-0092-z) contains supplementary material, which is available to authorized users.

South-central Pennsylvania, framed by the great folds of the Appalachians to the north and west, by the Mason-Dixon Line to the south, and by the rise of hills that bound the lower Susquehanna River to the east, was claimed by settler-farmers of western European descent during the early and mid-eighteenth century. They utilized river and stream valleys to gain access to the fertile lowlands and rich uplands of the region, following in the steps of surveyors to mark farm boundaries with timber fences cut from the cloak of forest. The social and ecological imprint of these boundary structures has endured for hundreds of years.

We report an α0-thalassemia (α0-thal) trait in Newfoundlanders caused by a novel 90.7 kb deletion. The deletion, designated the Newfoundland deletion (– –NFLD), removes both the HBA2 and HBA1 genes, while leaving the HBZ gene intact. The 5′ deletion endpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3′ deletion endpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene. This is the second α0-thal deletion reported in Newfoundland families of northern European descent.

Background Over the past 3 decades, a wide range of studies in the United States and the United Kingdom has reported that white individuals are more likely to be diagnosed with bipolar and affective disorders, whereas black individuals appear to be at higher risk for schizophrenia spectrum diagnoses. Despite the pressing need for strategies aimed at eliminating racial and cultural disparities in diagnosis and treatment of bipolar disorder, no systematic review of the existing literature in this area has been done. This study draws together the disparate strands of information in a comprehensive overview of the research base in this area. Methods An electronic literature search of the Medline and PsychINFO databases was conducted in October 2009, supplemented by a review of references in the identified articles, for a total of 51 articles included in this qualitative review. Results Black patients have consistently been found to be more likely than white patients to be diagnosed with schizophrenia rather than bipolar disorder. Four factors were identified as potential contributors to racial disparities in diagnostic rates: clinical presentation and expression of symptoms, access to care, help-seeking behaviors, and clinician judgment. Conclusion Despite efforts to curtail the phenomenon, racial disparities in diagnosis of bipolar disorder persist. Racial and cultural elements may affect how patients manifest behaviors and symptoms and how these are interpreted and attributed by clinicians in the diagnostic process. As an appropriate diagnosis determines treatment options and is central to quality of care, incorrect diagnosis can potentially have a negative impact on treatment effectiveness and accuracy of prognosis.

Lower than normal leg fat mass and excessive trunk fat mass are predictive of insulin resistance (IR) in obese women of European descent. Whether this regional adiposity relationship applies to moderately overweight women of Chinese descent is undetermined. Thus, the relationship between leg and trunk fat mass and IR of young (22.3 ± 0.3 years) sedentary Australian women of either Chinese (CW; n = 22) or European (EW; n = 36) descent was examined.Subjects underwent a maximal oxygen uptake test, blood draw, and dual energy x-ray absorptiometry to measure body composition. Fasting insulin levels and C-reactive protein (CRP) were assessed by ELISA and IR was calculated by HOMA-IR. Blood lipids and glucose were quantified by an automated enzymatic method (Cholestech LDX, USA).Total, arm, trunk, and leg fat was significantly greater (p0.05) for the EW group, whereas IR was significantly higher for CW. Fasting lipids and glucose were within normal levels for both groups, whereas CRP levels were significantly higher in EW. For EW trunk fat mass was the only variable significantly correlated with IR (r = 0.40, p0.05). In contrast, for CW leg fat mass was significantly correlated with IR (r = − 0.49, p0.05).Greater trunk fat mass was associated with higher IR of Australian women of European descent, whereas smaller leg fat mass was associated with higher IR of women of Chinese descent.

Hereditary hemochromatosis (HH) is a common hereditary disorder that primarily afflicts patients of Northern European descent. A single mutation of the HFE gene results in unregulated dietary iron uptake with the potential to deleteriously affect multiple organ systems including the eye. If HH is suspected, a screening test measuring transferrin saturation is initially obtained. Confirmation of this disorder is accomplished with genetic testing and liver biopsy. Treatment should commence immediately and undergo venesection (phlebotomy) treatments 2 to 4 times a year for the remainder of the patient's life.The following is a case of a 54-year-old male of Scottish-German descent who was evaluated for a subconjunctival hemorrhage (SCH). A review of the patient's record disclosed that he had 12 previous episodes of SCH over a 10-year period. He was undergoing a comprehensive evaluation for HH due to the recent diagnosis of this condition in his older brother. Hematologic analysis showed that our patient had a serum ferritin level 4 to 5 times higher than normal (1340 μg/L) and a homozygous recessive profile of the HFE gene. Once under maintenance venesection therapy, the frequency of the SCH diminished.HH must be considered a differential diagnosis in cases of recurrent SCH. Coupled with the recognition of characteristic physical signs and symptoms of HH, hematologic analysis and genetic testing may further aid in diagnosis. With early detection and treatment, the optometrist can make a significant impact on the life expectancy of the patient.

Restless legs syndrome (RLS) is a sleep-related movement disorder with an age-dependent prevalence of up to 10% (ie, one of the most common neurologic illnesses in populations of European descent). The defining symptom is an intense and unappeasable urge to move the legs in situations of rest or inactivity, mainly occurring in the evening or at night. Patients usually report unpleasant or even painful sensations deep inside their legs and only moving the extremity leads to an improvement of symptoms. As a consequence, patients with RLS suffer a profound reduction of their overall quality of life because of frequent sleep disruption and subsequent daytime sleepiness. They also face an increased occurrence of depression or anxiety andahigher risk of hypertension and cardiovascular disorders. Preventive and therapeutic options are necessary for these patients and require detailed knowledge of the underlying molecular processes. Starting with the first clinical descriptions of RLS by Ekbom in the 1940s, a significant influence of genes on disease susceptibility has been suspected and, over the years, has been proven.

HFE-haemochromatosis is a genetic disorder resulting from mutations of the HFE gene. It primarily affects people of Northern European descent. Clinical manifestations result from the progressive deposition of iron into various organs including the liver. An elevated serum ferritin concentration greater than 300 microgram/L and a transferrin saturation of greater than 45% will identify almost all patients with HFE-haemochromatosis. HFE genotyping confirms the diagnosis. In some patients, liver biopsy may still be necessary as the degree of hepatic fibrosis has prognostic implications.

BACKGROUND: Questionnaire-based studies investigating blood donation history rely on the accurate recall of information from participants for results to be valid. This study aimed to retrieve electronic records from a national blood donation service and link them to self-reported history of donation to assess agreement between the two sources. STUDY DESIGN AND METHODS: Between 2004 and 2006, a sample of participants of northern European descent was selected from the Melbourne Collaborative Cohort Study (n = 31,192) to participate in the "HealthIron" study (n = 1438). A total of 1052 participants completed questionnaires that included questions about blood donation history. In 2009, consenting participants' records were linked to the Australian Red Cross Blood Service (ARCBS) to provide information on blood donations made between 1980 and follow-up (2004-2006). Those who commenced blood donation before 1980 were excluded. RESULTS: A total of 718 participants were available for analysis. Of these, 394 (55%) provided signed consent, including 182 (82%) of the 227 participants who self-reported ever donating blood. The two data sources were concordant for 331 (87%) of participants, with a κ statistic of 0.74 (SE, 0.05) indicating a high level of agreement. Participants tended to overstate by a factor of 2.0 (95% confidence interval, 1.7-2.2) the number of donations they had made when compared with ARCBS records. CONCLUSION: Participants in studies assessing self-reported blood donation history are likely to correctly indicate whether or not they have ever donated blood. Quantitative estimates are potentially inaccurate and could benefit from validating a sample of records to quantify the bias.

Prediction of phenotypes from genetic data is considered to be the first practical application of data gained from association studies, with potential importance for medicine and the forensic sciences. Multiple genes and polymorphisms have been found to be associated with variation in human pigmentation. Their analysis enables prediction of blue and brown eye colour with a reasonably high accuracy. More accurate prediction, especially in the case of intermediate eye colours, may require better understanding of gene-gene interactions affecting this polygenic trait. Using multifactor dimensionality reduction and logistic regression methods, a study of gene-gene interactions was conducted based on variation in 11 known pigmentation genes examined in a cohort of 718 individuals of European descent. The study revealed significant interactions of a redundant character between the HERC2 and OCA2 genes affecting determination of hazel eye colour and between HERC2 and SLC24A4 affecting determination of blue eye colour. Our research indicates interactive effects of a synergistic character between HERC2 and OCA2, and also provides evidence for a novel strong synergistic interaction between HERC2 and TYRP1, both affecting determination of green eye colour.

Background Schizophrenia is a chronic and disabling psychiatric disorder affecting about 1% of the world population. While the biological mechanisms of schizophrenia remain largely elusive, much progress has been made in schizophrenia genetics in the past few years, with over 100 genomic loci associated with schizophrenia reported by the recent large-scale genome-wide association study. However, to date, almost all large schizophrenia genetics studies are derived from primarily European descent population, severely limiting our understanding of schizophrenia biology. Methods Here we present a large-scale schizophrenia genetic study, comprising of 12 schizophrenia case-control cohorts from Singapore, Hong Kong, Taiwan, mainland China, Japan, and Indonesia. After quality control, there are 13,760 cases and 16,883 controls available for genome-wide association. A fixed effect meta-analysis across Asian and Caucasian populations was conducted resulting in a combined sample of 46,945 cases and 59,800 controls. A novel fine-mapping algorithm was designed and conducted to identify potential causal variants between Caucasian and Asian samples. Results Twelve loci (p Discussion The reported results consist of amongst the largest collection of Asian GWAS samples to date. Evidence indicates shared biology across major world populations in schizophrenia. Specifically, across the two populations, all known schizophrenia associations were congruent in effect directions, and effect sizes show no significant heterogeneity. Our approach not only serve to improve detection of common variant loci that implicates two major populations in the world, the approach we have undertaken, improved GWA resolution which in turn allows us to better isolate the causal alleles and facilitate the functional interpretation of schizophrenia associations.

The issue of memory has drawn a great deal of attention in the social sciences. In France, in keeping with a sociological tradition that deems the nation-state and the dominant groups to be those worthy of study, the literature is essentially made up of studies of either national memory or of the memories of people of European descent. Perhaps the memory of black French people, especially in the emblematic issue of the slave trade and slavery, is the least investigated among studies of memory in France. Yet, concurrently with the recent effort of black French to appropriate this chapter of their past, beginning in 1998 with their commemoration of the 150th anniversary of the second abolition of slavery in territories under French jurisdiction, social scientists have begun to reflect on this commemorative dynamic. This article examines the mnemonic entrepreneurship and discourses of people of African descent in mainland France through the remembrance of slavery and the slave trade. The author argu...

Patient samples were referred to our immunohematology reference laboratory to investigate the presence of a weak D antigen. In the last 3 years, 26 samples were received. Serology and molecular analyses were performed to identify the weak D variant. RHD mRNA from all patients was reverse transcribed, and cDNA was sequenced. The results were compared with a normal RHD sequence to identify the polymorphisms causing the weak D phenotype. Five different already known RHD variants were observed: weak D type 1 (5 individuals), weak D type 2 (1 individual), weak D type 42 (17 individuals), weak D type 45 (1 individual), and partial D DNB (2 individuals). Surprisingly, weak D type 42 was prevalent in our population, whereas weak D type 1, 2, and 3 are the most prevalent variants elsewhere. Anti-D was found in six cases of weak D type 42. The higher prevalence of weak D type 42 could be the result of a founder effect. Additional studies are needed to estimate the frequency of this variant in the general population. Immunohematology 2011;27:20–24.

African-American men are disproportionally affected by prostate cancer in that African-American men are not only at increased risk of prostate cancer compared to American men of European descent, but also are at the highest risk of aggressive prostate cancer and death from prostate cancer. As well vitamin D3 deficiency is rampant in the African-American population. There is a biological component to this deficiency because sun-induced vitamin D3 synthesis in the skin is significantly reduced in melanin-rich pigmented skin. Consequently, about two thirds of African-American men are vitamin D3 deficient compared to about 20% of men of European descent. It is important to maintain a healthy vitamin D3 status because vitamin D3 deficiency increases the risk of prostate cancer mortality. Our group has examined vitamin D3 concentrations, metabolism and mediators in prostate tissue and cells of a racially diverse group of patients to discern differences in African-American men. Citation Format: Larisa Nonn. Vitamin D deficiency and prostate cancer in men with African ancestry. [abstract]. In: Proceedings of the Sixth AACR Conference: The Science of Cancer Health Disparities; Dec 6–9, 2013; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2014;23(11 Suppl):Abstract nr PL01-03. doi:10.1158/1538-7755.DISP13-PL01-03

The type 1 coved ST-segment Brugada ECG pattern is said to be unusual in a general population, perhaps occurring in 0.1% of European descent populations,1 and possibly more often, ≤0.2%, in East Asians.2,3 Therefore, it is surprising that in this issue of Circulation: Arrhythmia and Electrophysiology , Blom et al4 report identifying a Brugada ECG pattern in 11.6% (32/275) of patients with schizophrenia. The finding is unexpected and may carry interesting implications both for mechanisms and for patient care. Article see p 384 Only 1 subject had the definitive type 1 ECG pattern, and the other 31 had the less specific type 2 to 3 pattern, whose frequency in the general population has not been well established. The authors did examine the prevalence of the Brugada ECG pattern in 2 control groups. In a small group of young healthy population controls, the type 2 to 3 pattern was seen in 2/179 (1.1%) subjects, whereas in a group of older population controls, the prevalence was 28/1168 (2.4%). In the present study, 23 of the 31 patients with the type 2 to 3 pattern consented to provocative testing with ajmaline and 10/23 then displayed the type 1 pattern. Although there was no family or personal history of syncope of cardiac arrest, this finding adds weight to the conclusion that the high prevalence of the pattern seems to be a real finding. There was no type 1 ECG in either control group, and for study design reasons the controls were not accessible for …

Background Genome-wide association studies (GWAS) have identified numerous common SNPs associated with prostate cancer (CaP) risk in men of European descent. This study evaluates GWAS SNPs associated with CaP in African Americans (AA) and European Americans (EA).

In the article “Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent …

During the late nineteenth century, the physical stature of New Zealand-born men stagnated, despite an apparently beneficial public health environment and growth in per-capita incomes. We examine trends and differentials in male stature through World War I enlistment and casualty records. Stature varied by social class, with professionals and men in rural occupations substantially taller than their peers. There is not enough evidence to show that the indigenous Maori population differed in height from men of European descent. Stagnation in stature in late nineteenth-century New Zealand is consistent with patterns observed in Australia, North America, and Western Europe.

Hereditary hemochromatosis has an autosomal recessive inheritance. The C282Y homozygosity is the most common genetic mutation in persons of Northern European descent. A screen of two multiethnic populations in Northern Norway was performed to investigate whether the prevalence of hereditary hemochromatosis was consistent with previous results in Northern Europe.Participants in two population-based studies in Northern Norway were analyzed for serum ferritin (s-ferritin) and transferrin saturation. Participants with s-ferritin or transferrin saturation above the reference limits in two separate blood samples were tested for three different HFE mutations, namely C282Y, H63D and S65.The estimated prevalence of the C282Y/C282Y mutation in the two municipalities studied was lower than in comparable studies in Norway. The prevalence was the lowest in the Sør-Varanger population (men 0.19% and women 0.22%), which also had the highest proportion of individuals with Sami and Kven affiliation. In Tromsø, the prevalence was consistent with previous results in Norway.The prevalence of hereditary hemochromatosis is lower in multiethnic populations in Northern Norway than in previous studies from other parts of Norway.

The epidemiology of the antineutrophil cytoplasm antibody (ANCA)-associated vasculitides (AAV), comprising Wegener's granulomatosis, microscopic polyangiitis, and Churg-Strauss syndrome, poses considerable challenges to epidemiologists. These challenges include the difficulty of defining a case with a lack of clear distinction between the different disorders, case capture, and case ascertainment. The AAV are rare and therefore a large population is required to determine the incidence and prevalence, and this poses questions of feasibility. Despite these difficulties a considerable body of data on the epidemiology of the AAV has been built in the past 20 years with an interesting age, geographic, and ethnic tropism gradually being revealed. Most of the data come from White populations of European descent, and the overall annual incidence is estimated at approximately 10-20/million with a peak age of onset in those aged 65 to 74 years.

DNA methylation plays a critical role in the initiation and promotion of breast cancer. Previous studies have identified multiple promising methylation markers associated with breast cancer risk. However, these studies had very small sample sizes and potential confounding factors were not taken into consideration. In the present study, we used genetic variants as instruments to investigate DNA methylation in relation to breast cancer. We extracted beta coefficients and standard errors for methylation quantitative trait loci of 30,477 CpG sites and applied them into the genetic data of 122,977 breast cancer cases and 105,974 controls of European descent included in the Breast Cancer Association Consortium (BCAC). Associations of genetically predicted methylation levels with breast cancer risk were evaluated using an inverse-variance weighted method. For CpG sites showing a significant association with breast cancer, we estimated the correlation between methylation with gene expression using data from the Framingham Heart Study. For genes with expression levels correlated to methylation, statistical models were built to predict gene expression levels via genetic variants using data from the Genotype-Tissue Expression project. These models were then applied to the BCAC to assess the association of predicted gene expression and breast cancer risk. Of the 30,477 inspected CpG sites, significant associations with breast cancer risk were observed for 199 CpG sites at P < 1.64×10-6, a Bonferroni-corrected threshold. Among them, 22 CpG sites were located in genomic regions not yet reported as risk loci for breast cancer. Among the remaining 177 CpG sites located in breast cancer risk loci, significant associations were observed for 27 CpG sites after the breast cancer SNPs were adjusted. Among the 199 CpG sites, correlation was observed at 29 CpG sites with expression levels of 17 neighbor or enhancer target genes at P < 0.05. Among them, genetically predicted expression levels of 13 genes were significantly associated with breast cancer risk at a false discovery rate < 0.05, 11 of which showed consistent association directions with the associations between methylation and gene expression, and between gene expression and breast cancer. For example, the higher methylation level at cg00577578 was associated with an increased breast cancer risk (P = 1.31×10-7) and a decreased expression level of GBAP1 (P = 5.07×10-15), and meanwhile, a lower expression level of GBAP1 was associated with increased breast cancer risk (P = 2.22×10-9). Using genetic variants as instruments, we identified 199 CpG sites significantly associated with breast cancer risk. Our study demonstrates the potential of integrating genomics, DNA methylation and gene expression in identifying new biomarkers for breast cancer, and provides new insights into the etiology of this malignancy. Citation Format: Yaohua Yang, Qiuyin Cai, Xiang Shu, Lang Wu, Bingshan Li, Xingyi Guo, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Jacques Simard, Douglas F. Easton, Wei Zheng, Jirong Long, Breast Cancer Association Consortium (BCAC). DNA methylation quantitative trait loci and breast cancer risk: Data from nearly 230,000 women of European descent [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 5314.

PurposeThe purpose of this paper is to investigate whether user characteristics (including gender, age, education, ethnicity and employment) affect the frequency of access to community information networks (CINs).Design/methodology/approachA user survey was conducted through selected New Zealand public libraries' web sites, and interviews with staff were conducted. Chi‐square (χ2) tests were used to test the research hypotheses in association with the research questions.FindingsCIN users come from various backgrounds in terms of education, ethnicity and employment, and they include females and males in every age group. However, more females access CINs than males, and the majority of CIN users are of European descent. Also more educated people tend to access CINs more. Respondents working in education, business/commerce, finance/banking and IT/telecommunications exhibited high CIN usage.Originality/valueThe research findings are valuable resources for CIN developers in other organisations who are looking to improve their understanding of users' characteristics in association with the frequency of access to CINs, as well as to improve their services. Furthermore, such findings can be valuable to students and researchers who are interested in the fields of community information networks.

"One World, One Dream". "For The Game, For The World". "All in One Rhythm." The World Cup and the Olympic Games usually announce themselves in terms of dreams and opportunities for the people of the host country.Along three years of navigating through the daily lives of three Brazilians - one of Indigenous, one of African and one of European descent - the film WE MUST BE DREAMING explores how the 2014 FIFA World Cup and the 2016 Rio Olympic Games have affected the lives of the people of Rio de Janeiro and to what degree the two biggest sport events of the planet have brought the dreams and opportunities they promise.

Genome-wide association (GWA) studies have identified a large number of single-nucleotide polymorphisms (SNPs) associated with disease phenotypes. As most GWA studies have been performed primarily in populations of European descent, this review examines the issues involved in extending consideration of GWA studies to diverse worldwide populations. Although challenges exist with such issues as imputation, admixture, and replication, investigation of diverse populations in GWA studies has significant potential to advance the project of mapping the genetic determinants of complex diseases for the human population as a whole.

OBJECTIVE The aims of this study were to test for a diurnal pattern in hot flashes in a multiethnic population living in a hot, humid environment and to examine the rates of concordance between objective and subjective measures of hot flashes using ambulatory and laboratory measures. METHODS Study participants aged 45 to 55 years were recruited from the general population of Hilo, HI. Women wore a Biolog hot flash monitor (UFI, Morro Bay, CA), kept a diary for 24 hours, and also participated in 3-hour laboratory measures (n = 199). Diurnal patterns were assessed using polynomial regression. For each woman, objectively recorded hot flashes that matched subjective experience were treated as true-positive readings. Subjective hot flashes were considered the standard for computing false-positive and false-negative readings. True-positive, false-positive, and false-negative readings were compared across ethnic groups by chi analyses. RESULTS Frequencies of sternal, nuchal, and subjective hot flashes peaked at 1500 +/- 1 hours with no difference by ethnicity. Laboratory results supported the pattern seen in ambulatory monitoring. Sternal and nuchal monitoring showed the same frequency of true-positive measures, but nonsternal electrodes picked up more false-positive readings. Laboratory monitoring showed very low frequencies of false negatives. There were no ethnic differences in the frequency of true-positive or false-positive measures. Women of European descent were more likely to report hot flashes that were not objectively demonstrated (false-negative measures). CONCLUSIONS The diurnal pattern and peak in hot flash occurrence in the hot humid environment of Hilo were similar to results from more temperate environments. Lack of variation in sternal versus nonsternal measures and in true-positive measures across ethnicities suggests no appreciable effect of population variation in sweating patterns.

Individuals of African descent have been reported to be at higher risk for becoming visually impaired from glaucoma compared with individuals of European descent.To investigate racial differences in longitudinal visual field variability and their impact on time to detect visual field progression.This multicenter prospective observational cohort study included 236 eyes of 173 individuals of European descent and 235 eyes of 171 individuals of African descent followed up for a mean (SD) time of 7.5 (3.4) years.Differences in test-retest variability and simulated time to detect progression in individuals of African descent and of European descent with glaucoma. Standard automated perimetry mean deviation values were regressed over time for each eye, and SD of the residuals was used as a measure of variability. Distributions of residuals were used in computer simulations to reconstruct "real-world" standard automated perimetry mean deviation trajectories under different assumptions about rate of change and frequency of testing. Times to detect progression were obtained for the simulated visual fields.Among the 344 patients, the mean (SD) age at baseline was 60.2 (10.0) and 60.6 (9.0) years for individuals of African descent and of European descent, respectively; 94 (52%) and 86 (48%) of individuals of African descent and of European descent were women, respectively. The mean SD of the residuals was larger in eyes of individuals of African descent vs those of European descent (1.45 [0.83] dB vs 1.12 [0.48] dB; mean difference: 0.33 dB; 95% CI of the difference, 0.21-0.46; P .001). The eyes in individuals of African descent had a larger increase in variability with worsening disease (P .001). When simulations were performed assuming common progression scenarios, there was a delay to detect progression in eyes of individuals of African descent compared with those of European descent. For a scenario with baseline mean deviation of -10 dB and rate of change of -0.5 dB/y, detection of progression in individuals of African descent was delayed by 3.1 (95% CI, 2.9-3.2) years, when considered 80% power and annual tests.Patients of African descent with glaucoma showed increased visual field variability compared with those of European descent, resulting in delayed detection of progression that may contribute to explain higher rates of glaucoma-related visual impairment in individuals of African descent compared with those of European descent with glaucoma.

Based on a survey in two country towns of southeastern Australia, cardiovascular risk-factor prevalence data from Aborigines and persons of European descent are presented. The mean diastolic blood pressure in 123 Aboriginal males was 83.2 mmHg, compared with 79.2 mmHg in 272 European males (P= 0.005). In 178 Aboriginal females, mean diastolic pressure was 79.2 mmHg, compared with 76.3 mmHg in 281 European females (P = 0.006). Mean plasma total cholesterol was higher in Europeans (both males and females: 5.7 mmol/L) than in Aborigines (in males 5.2 and females 5.0 mmol/L) (male comparison, P = 0.02, female comparison, P < 0.001). The prevalence in participants aged 25 to 64 years of at least one major risk factor (diastolic blood pressure 95 mmHg or higher, plasma cholesterol 6.5 mmol/L or higher, or smoking more than one cigarette daily) was higher in both these samples of Aborigines (94 per cent in males, 89 per cent in females) and Europeans (70 per cent in males, 59 per cent in females) than in the 1989 urban sample of the National Heart Foundation (47 per cent in males, 36 per cent in females). Multivariate analyses showed statistically significant independent contributions of body mass index and the variable ‘ethnicity’ (unidentified genetic and environmental differences between the groups) to blood pressure and other risk factors. The higher cardiovascular mortality of Aborigines may be explained partly by the higher prevalence of risk factors in this group compared with other Australians. Further, the risk-factor profile may be worse among rural compared with urban Europeans.

As part of a population-base study of risk factors for heart disease, we aimed to establish the prevalence of smoking and to identify associations between smoking and other risk factors in Australian Aborigines (n = 306) and persons of European descent (n = 553) in two country towns. Smoking prevalence was first analysed as a dichotomy (current smokers compared with nonsmokers), and according to three levels of exposure (10, 10-20 and20 cigarettes per day), and two levels of nonexposure (never and former smoker). Other behavioural, biochemical and physical variables were included in multivariable analyses. Of the Aborigines, 64.4 per cent (95 per cent confidence interval (CI) 59.0 per cent to 69.8 per cent) were current cigarette smokers, compared with 22.8 per cent of non-Aborigines (CI 19.3 per cent to 26.3 per cent). For persons aged 13 to 54 years, using the five categories of exposure, smoking in Aborigines again far exceeded that in non-Aborigines in all age groups (for males chi 2 = 72.8, for females chi 2 = 94.6, 4 df, P =0.0001 for both sexes). In non-Aboriginal females, the highest prevalence was in the youngest group (56 per cent of those aged 13 to 17 years). Food habit was associated with smoking. Subjects who ate meat without trimming the fat were more likely to smoke. In Australian country towns, Aborigines and all young women need smoking cessation programs. The nutritional status of smokers requires further study.

As part of a study of risk factors for glucose intolerance and heart disease in Australian Aborigines and persons of European descent, we elicited the prevalence of food habits that may be associated with high fat and high salt intakes. Interview data were gathered from population-based samples in country towns and visitors to an Aboriginal health service in a state capital city, all in southeastern Australia. Among persons aged 13 years and over, the frequency of eating takeaway food as a meal was categorised as monthly or less, weekly, more than once per week, and daily or more often. The prevalence of eating such meals was higher among city Aborigines than those living in the country town; the prevalence was lowest among the country-town Europeans (χ2 = 184, 6 df, P < 0.001). The prevalence of adding salt during cooking and food consumption was higher among Aborigines compared with Europeans. Among country-town Aboriginal males aged 35 or under, 25 of 40 (63 per cent) added salt to cooked food ‘most of the time’, compared with 66 of 185 (36 per cent) Europeans (χ2 = 9.8, P = 0.002). Among Aboriginal females, 47 of 64 (64 per cent) were in the highest category of salt use, compared with 35 of 190 (18 per cent) of Europeans (χ2 = 66.3, P < 0.001). About one-third of country-town Aboriginal males used dripping to fry food, but in the other ethnicity, gender and location groups, vegetable oil was the most frequent choice. The main differences in food habits were associated with ethnicity, rather than location. It remains critical that approaches to dietary modification be specific to ethnic groups.

The current study investigates whether eye color provides a marker of Agreeableness in North Europeans. Extrapolating from Frost’s (2006) research uncovering an unusually diverse range of hair and eye color in northern Europe, we tested the hypothesis that light eyed individuals of North European descent would be less agreeable (a personality marker for competitiveness) when compared to their dark eyed counterparts, whereas there would be no such effect for people of European descent in general. The hypothesis was tested in Australia to provide consistent environmental conditions for both groups of people. Results support the hypothesis. Implications and conclusions are discussed.

Submitted by Guilherme Lemeszenski (guilherme@nead.unesp.br) on 2013-08-22T18:49:51Z No. of bitstreams: 1 S0001-37652009000400008.pdf: 1488595 bytes, checksum: 66dbd30172ab185c5dda78aeb700cc1e (MD5) Made available in DSpace on 2013-08-22T18:49:51Z (GMT). No. of bitstreams: 1 S0001-37652009000400008.pdf: 1488595 bytes, checksum: 66dbd30172ab185c5dda78aeb700cc1e (MD5) Previous issue date: 2009-12-01 Made available in DSpace on 2013-09-30T19:40:16Z (GMT). No. of bitstreams: 2 S0001-37652009000400008.pdf: 1488595 bytes, checksum: 66dbd30172ab185c5dda78aeb700cc1e (MD5) S0001-37652009000400008.pdf.txt: 27663 bytes, checksum: 7fe48c39500f41255e070b3f187e808e (MD5) Previous issue date: 2009-12-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T15:10:41Z No. of bitstreams: 2 S0001-37652009000400008.pdf: 1488595 bytes, checksum: 66dbd30172ab185c5dda78aeb700cc1e (MD5) S0001-37652009000400008.pdf.txt: 27663 bytes, checksum: 7fe48c39500f41255e070b3f187e808e (MD5) Made available in DSpace on 2014-05-20T15:10:41Z (GMT). No. of bitstreams: 2 S0001-37652009000400008.pdf: 1488595 bytes, checksum: 66dbd30172ab185c5dda78aeb700cc1e (MD5) S0001-37652009000400008.pdf.txt: 27663 bytes, checksum: 7fe48c39500f41255e070b3f187e808e (MD5) Previous issue date: 2009-12-01 O objetivo deste trabalho foi resgatar e documentar o conhecimento popular referente às plantas medicinais utilizadas na comunidade rural do Passo da Ilha, em Pato Branco-PR (26° 11' S, 52°36' W e 760 m de altitude). Optou-se por utilizar o modelo de entrevista estruturada com 16 informantes, os quais possuíam o conhecimento sobre o uso das plantas medicinais em suas famílias. O período da realização das entrevistas foi de outubro a dezembro de 2000. As plantas foram coletadas no campo, identificadas e vouchers foram depositados no Herbário Irina Delanova de Gemtchjnicov (BOTU) da Universidade Estadual Paulista, em Botucatu-SP. Foram identificadas 47 famílias botânicas e 114 espécies de plantas medicinais. Estas plantas foram indicadas para mais de 30 usos medicinais diferentes. A comunidade é composta na maioria por descendentes de europeus, justificando a presença de muitas plantas exóticas. O domínio do uso das plantas é feminino, porém o conhecimento é menor nas gerações mais novas, denotando um processo de erosão cultural. The scope of this work was to rescue and document the traditional knowledge regarding the medicinal plants used by Passo da Ilha rural community, in Pato Branco, Paraná State, Southern Brazil (26° 11' S, 52°36' W and 760 m high). Structured interviews were made in field research with 16 informants who had the traditional knowledge about medicinal plants. The research was carried out from October to December 2000. The plants were collected in the field, identified and their vouchers were housed at the Herbarium Irina Delanova de Gemtchjnicov (BOTU) of São Paulo State University, in Botucatu. A total of 47 botanical families and 114 species of medicinal plants were identified. These plants ere suitable for ore than 30 different edicinal uses. The residents are mainly of European descent, which justify the presence of many exotic plants. The knowledge on how to use medicinal plants properly is held mainly by the females, and decreases in the newer generations, denoting cultural erosion in progress. Universidade Tecnológica Federal do Paraná Universidade Estadual Paulista Faculdade de Ciências Agrárias Secretaria de Educação Universidade Estadual Paulista Faculdade de Ciências Agrárias

• Many obstetric and gynaecological disorders result from complex interactions between genetic and environmental factors. • Mapping of the patterns of variation in the human genome by the International HapMap project has made it possible to screen for common genetic variants in the human genome rapidly and economically. • Susceptibility genes for complex disorders typically have small effects. • Many thousands of samples from well-phenotyped cases are required to detect susceptibility genes with confidence. • National and international consortia provide a necessary research infrastructure for genetic studies of complex disorders. Learning objectives: • To understand the principles and applications of linkage disequilibrium, haplotype tagging and genome-wide association screening. • To be able to access the bioinformatic resources available to researchers studying the genetic basis of complex disorders. Ethical issues: • Research investment in haplotype mapping is leading to the identification of susceptibility genes for complex disorders, largely related to populations of white, western European descent. It is important to ensure that these benefits extend to all populations, including those in developing countries. Please cite this article as: Morgan L. Haplotype mapping in human disease. The Obstetrician & Gynaecologist 2009;11:277–283.

Grb10-Interacting GYF Protein-2 gene (GIGYF2) has been suggested as a candidate gene for PARK11 locus since seven different GIGYF2 missense mutations were identified in familial Parkinson's disease (PD) patients of European descent. To evaluate the frequency and distribution of GIGYF2 Asn56Ser mutation in Chinese PD patients, we analyzed 469 patients with PD from mainland China, including 36 cases with familial PD and 433 cases with sporadic PD. A total of 451 subjects without neurological disorders from the same region in China were set as a control group. The result showed that the GIGYF2 Asn56Ser mutation was not present in all subjects. Our finding suggests that the GIGYF2 Asn56Ser mutation is rare in Chinese PD patients.

Summary Cystic fibrosis (CF) affects between 1 in 2000 and 1 in 4500 children of European descent [R.S. Mendelsohn, B.M. Cohen. Otorhinolaryngologic aspects of cystic fibrosis. Archives of Otolaryngology 79 March (1964) 312–17]. There have been few reported cases of fungal sinus infections in patients with CF [S.K. Wise, T.T. Kingdom, L. McKean, J.M. DelGaudio, G. Venkatraman. Presence of fungus in sinus cultures of cystic fibrosis patients. American Journal of Rhinology 19 January–February (1) (2005) 47–51]. We report a unique case of a young male with CF presenting with severe destructive sinonasal polyposis, which was refractory to all treatment until he was treated for a concomitant fungal bronchopulmonary infection.

The aim of this work was to determine the VKORC1 haplotype profile in healthy Hungarian and Roma population samples, and to compare our data with other selected populations. Using haplotype tagging SNPs (G-1639A, G9041A and C6009T), we characterized Hungarian (n = 510) and Roma (n = 451) population samples with regard to VKORC1*1, *2, *3 and *4 haplotypes. In the Hungarian samples, the VKORC1*1, *2, *3 and *4 haplotypes accounted for 3, 39, 37 and 21%, respectively and by contrast, in the Roma population samples the VKORC1 variants were 5, 30, 46 and 19%, respectively. Comparing the genotypes of Roma and Hungarian populations, difference was found in the *2/*2 (6.87 vs 13.5%), *2/*4 (13.9 vs 19.2%) and *3*3 (21.9 vs 13.7%) VKORC1 haplotype combinations. Comparing each group with the others, and our data with findings published previously by other groups, the VKORC1 genetic profile in Hungarians was more similar to European Caucasians and Americans with European descent than to Roma samples. Clear differences could be detected between Roma versus Hungarians and European or American Caucasians; the Roma population had only minor similarities with data from India.

Purpose. An audience-centered approach was used to develop valid and reliable scales to measure adult self-efficacy to eat fruit and vegetables. Design. Cross-sectional survey of a national population. Setting. New Zealand. Subjects. A sample of 350 adults ages 25 to 60 years was randomly selected from a nationally representative sampling frame. Overall, 231 questionnaires were returned, producing a 72% response rate. The mean age of subjects was 42.7 years; 58% were female; 80% were of European descent; 11% were indigenous Maori. Measures. The 76–item, self-administered questionnaire collected data on demographics, fruit and vegetable intakes, stages of change, decisional balance, and self-efficacy (24 items). Analysis. Principal components analysis with oblimin rotation was performed. Results. Principal components analysis yielded three distinct and reliable scales for self-efficacy to eat “vegetables, ” “fruit, ”and “fruit and vegetables” (Cronbach α = .80, .85, and .73, respectively). These scales were correlated, but only the “vegetable” scale was positively correlated with the “fruit and vegetable” scale (Kendall tau r = 0.30, −0.26 [fruit, “fruit and vegetables”], −0.38 [fruit, vegetable]). As predicted, self-efficacy was associated with intake (r = 0.30 [fruit], 0.34 [vegetables]). Conclusion. Assuming the factor structure is confirmed in independent samples, these brief, psychometrically sound scales may be used to assess adult self-efficacy to eat fruit and to eat vegetables but not self-efficacy to eat “fruit and vegetables. ”

Theoretically, individuals whose ancestors evolved in cold and/or dry climates should have greater nasal mucosal surface area relative to air volume of the nasal passages than individuals whose ancestors evolved in warm, humid climates. A high surface-area-to-volume (SA/V) ratio allows relatively more air to come in contact with the mucosa and facilitates more efficient heat and moisture exchange during inspiration and expiration, which would be adaptive in a cold, dry environment. Conversely, a low SA/V ratio is not as efficient at recapturing heat and moisture during expiration and allows for better heat dissipation, which would be adaptive in a warm, humid environment. To test this hypothesis, cross-sectional measurements of the nasal passages that reflect surface area and volume were collected from a sample of CT scans of patients of European and African ancestry. Results indicate that individuals of European descent do have higher SA/V ratios than individuals of African descent, but only when decongested. Otherwise, the two groups show little difference. This pattern of variation may be due to selection for different SA/V configurations during times of physical exertion, which has been shown to elicit decongestion. Relationships between linear measurements of the skeletal nasal aperture and cavity and cross-sectional dimensions were also examined. Contrary to predictions, the nasal index, the ratio of nasal breadth to nasal height, is not strongly correlated with internal dimensions. However, differences between the nasal indices of the two groups are highly significant. These results may be indicative of different adaptive solutions to the same problem.

This study documents how residents experience Multiple Family Group (MFG) treatment in an 18-week residential therapeutic program for people with a severe substance disorder. Individual in-depth interviews with nine residents and three ex-residents of European descent were undertaken, and analysed using a descriptive thematic analysis. Results indicate that, prior to taking part in the program, their relationships with their families were seriously damaged and their situations often appeared complex and hopeless. After attending the MFGs all of the participants of this study experienced a number of positive changes in their relationships with their family members and partners. All interviewees said that they had gained more awareness about their interactions, better communications skills and were able to integrate these skills into their relationships with their families and partners.

Margaret Mahy's The Tricksters (1986), Aliens in the Family (1986), Memory (1987) and Kaitangata Twitch (2005) equate the experience of being an adolescent with the experience of being a Pakeha, a New-Zealander of European descent. They do so by making the Pakeha adolescent a chronotope of Maori space and European time. Mahy uses the fluidity of adolescence to destabilize expectations about race as self-contained and complete, and the fluidity of Pakeha identity to destabilize expectations about the boundaries between child and adult.

Liu Ming (born Charles Belyea) was perhaps the first American of European descent to identify himself as a Daoist priest for the purpose of teaching Daoism as a religious tradition. His organization Orthodox Daoism in America (ODA) introduced Americans to a particular, traditional Chinese orientation towards knowledge and commitment. His life and work, training and challenges are symptomatic of the ebbs and flows observable as Daoism winds its way into Western culture.

Asian populations have a higher percentage body fat (%BF) and are at higher risk for CVD and related complications at a given BMI compared with those of European descent. We explored whether %BF was disproportionately elevated in rural Bangladeshi women with low BMI. Height, weight, mid-upper arm circumference, triceps and subscapular skinfolds and bioelectrical impedance analysis (BIA) were measured in 1555 women at 3 months postpartum. %BF was assessed by skinfolds and by BIA. BMI was calculated in adults and BMI Z-scores were calculated for females Z-score cut-offs that optimally classified women as having moderately excessive adipose tissue (defined as >30 % body fat). Linear regressions estimated the association between BMI and BMI Z-score (among adolescents) and %BF. Mean BMI was 19·2 (sd 2·2) kg/m2, and mean %BF was calculated as 23·7 (sd 4·8) % by skinfolds and 23·3 (sd 4·9) % by BIA. ROC analyses indicated that a BMI value of approximately 21 kg/m2 optimised sensitivity (83·6 %) and specificity (84·2 %) for classifying subjects with >30 % body fat according to BIA among adults. This BMI level is substantially lower than the WHO recommended standard cut-off point of BMI ≥ 25 kg/m2. The equivalent cut-off among adolescents was a BMI Z-score of –0·36, with a sensitivity of 81·3 % and specificity of 80·9 %. These findings suggest that Bangladeshi women exhibit excess adipose tissue at substantially lower BMI compared with non-South Asian populations. This is important for the identification and prevention of obesity-related metabolic diseases.

Age-related macular degeneration continues to be the leading cause of severe central vision loss in older adults of European descent. Optical coherence tomography angiography (OCT-A) enables more accurate identification of type 1 neovascularization in age-related macular degeneration than traditional fluorescein and indocyanine green angiographies. In addition, OCT-A facilitates the morphological classification of type 1 lesions, including features characteristic of early, mature, and fibrotic lesions. Vessel complex analysis, including lesion area and capillary density quantification, can also be readily measured and monitored over time. Performing this analysis following anti-vascular endothelial growth factor therapy may lead to a better understanding of the efficacies and responses to such treatments. Although some limitations currently exist, OCT-A is a promising imaging modality that could prove to have profound implications if incorporated into regular clinical practice.

Pauline Smith’s short story “Desolation” (1930) and C.W. de Kiewiet’s A History of South Africa: Social and Economic (1941) evince a shared concern with “poor whites”. Moreover, both locate white poverty in the same barren landscape, that of the Karoo. However, while de Kiewiet refuses to see the Karoo as sublime, Smith deploys a version of the sublime that helps naturalize the position of Afrikaners by rendering the autochthonous inhabitants of the landscape more or less invisible. Though de Kiewiet does not see the landscape as sublime, he is nevertheless overawed by empire as a transcendent, “spiritual” achievement of the reason which pre‐modern Afrikaners supposedly do not possess. Through their different invocations of the sublime in order to deal with the problems of poverty and whiteness, these texts negotiate a dilemma that has not been finally resolved in contemporary Africa, namely the position of people of European descent on that continent.

Health services should consider the masculine representation of disease that underlies men’s health behaviors. This study presents a transcultural view of Prostate Cancer (PC) among Canadian men of European descent. Nine men who were enrolled in a PC support group in Southeastern Ontario comprised the sample. Data were collected through interviews, genograms and ecomaps. The contrasting-ideas method guided analysis and interpretation of the findings. Healthcare providers must assist men to understand that an immediate investment of time is imperative to adequately decode and understand medical information, consider available therapies, and reflect on the potential outcome of their decisions.

A recent study reported that among people who carried a single copy of the high-risk allele for the FTO gene, which is associated with fat mass and obesity, the risk of obesity increased by 30%. The risk of obesity increased by 67% among people who carried two alleles, and on average they gained 3.0 kg (6.6 lb) or more.1 Given that approximately one sixth of the population of European descent is homozygous for this allele, this link between the FTO gene and obesity appears to be one of the strongest genotype–phenotype associations detected by modern genome-screening techniques. That obesity has . . .