Mixed Ethnic Backgrounds Research Articles

Country of birth modifies the associations of body mass and hemoglobin A1c with office blood pressure in Middle Eastern immigrants and native Swedes.

Immigrant populations from the Middle East are at high risk of obesity and diabetes, but paradoxically hypertension is reported to be less prevalent. Studies of the risk factors for hypertension in these populations are scarce. The aim was to study the distribution of cardiovascular and metabolic risk factors in the Middle East immigrant population compared with native Swedes. A population-based, cross-sectional study of men and women, aged 30-75 years, born in Iraq or Sweden, was conducted in 2010-2012 in Malmö, Sweden. A 75-g oral glucose tolerance test was performed, and sociodemographic and lifestyle data were collected. In participants born in Iraq (n = 1311) vs. participants born in Sweden (n = 698), without a history of cardiovascular disease (CVD), the metabolic syndrome (MetS) was more prevalent in the Iraqis (49.2 vs. 40.3%, P < 0.001). Iraqis presented with higher prevalence rates of all but one MetS entity: elevated blood pressure (BP; 46.0 vs. 61.3%, P < 0.001, data adjusted for age, sex and antihypertensive medication). Being born in Iraq independently decreased the risk of elevated SBP and DBP. Furthermore, higher BMI, waist circumference, pulse rate and hemoglobin A1c (HbA1c) values presented weaker associations with SBP and DBP in Iraqis than in Swedes. These relationships were confirmed by interactions with the country of birth. BP-regulating mechanisms seem to differ in the Middle Eastern compared with a nonmigrated native European population. Further studies are needed for reaching a better understanding of the mechanisms contributing to CVD in populations of mixed ethnic backgrounds.

TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia

Purpose/Aim of the study: To analyze contribution of rs3842225 and rs1182 single nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of hereditary early-onset generalized dystonia, to the development of focal and segmental dystonia in Russian patients. Materials and methods: We analyzed associations between rs3842225 and rs1182 polymorphisms in TOR1A and focal/segmental dystonia in 254 patients from Russian population, including 218 Slavic patients and 36 patients of mixed ethnic background. Results: Stratification of patients based on age at the disease onset (≤ 30 years and > 30 years) showed statistically significant prevalence of the del-allele at the rs3842225 locus in Slavic patients with earlier age of onset of dystonia (36.96% vs. 21.39% in patients with late age of onset, p = 0.002) and an overrepresentation of the T-allele at the rs1182 locus (36.96% vs. 21.69%, p = 0.003). In Slavs, we also observed an overrepresentation of the homozygous genotypes, T/T (general sample of dystonia, 9.17% and focal dystonia, 10.28%) or G/G (general sample of dystonia, 60.55% and focal dystonia, 58.86%), compared to controls (T/T, 4.27% and G/G, 55.49%). In non-Slavic patients, we revealed neither significant associations, nor statistical tendencies regarding any of the clinical features. Conclusions: Our data in an Eastern Slavic (Russian) population correspond well to results of other studies from different countries and confirm that certain TOR1A genotypes may be regarded as factors predisposing to focal and segmental dystonia.

Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

Carrier screening for specific genetic disorders is recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG), and societies representing the Ashkenazi Jewish population. Due to cost considerations and technological limitations, traditional carrier screening assays are designed to detect only the most common mutations in a gene. This older approach can yield high detection rates in specific populations (e.g., Ashkenazi Jewish); however, it can be suboptimal for other ethnicities and for patients of mixed or unknown ethnic background.

Focused screening of a panel of cancer‐related genetic polymorphisms reveals new susceptibility loci for pediatric acute lymphoblastic leukemia

A genetic predisposition to acute lymphoblastic leukemia (ALL) in childhood is well established. Currently known risk loci, however, explain only one third of the estimated total risk related to common genetic variations. We genotyped 1,421 polymorphisms in 407 candidate genes from the SNP500Cancer database (National Cancer Institute) using the Illumina Cancer SNP Panel. We investigated 78 cases (aged 0-19 years at diagnosis, and mixed ethnic background) of childhood B-precursor ALL and compared genotype data with those of 1,417 HapMap controls. To account for the ethnic diversity of the study population, structured association by genetically matching cases and controls using identity-by-state similarity was used. Case-control association analyses were performed using Cochran-Mantel-Haenszel tests, adjusted for the population substructure. Common variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL. These SNPs remained significant after adjustment for multiple testing. The SNP rs6966 tags a haplotype block which includes SNPs in PPP1R13L and ERCC2 genes, which are related to DNA repair and cell survival. rs6966 and rs414580 conferred allelic odds ratios of 3.74 (95% confidence interval [CI] 2.31-6.04) and 3.93 (95% CI 2.31-6.69), respectively. These findings reveal two independent novel susceptibility loci for childhood ALL.

Carrier Screening of 16,500 Patients in the IVF Setting Utilizing Next Generation DNA Sequencing Detects Common, Rare and Otherwise Undetectable Mutations in Prevalent, Society-Recommended Diseases

Carrier screening for specific genetic disorders is recommended by the American Congress of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG), and numerous societies representing the Ashkenazi Jewish population. Due to cost considerations and limitations of the technologies employed, traditional carrier screening assays are designed to look for only the most common mutations within a gene. This older approach can yield high detection rates in specific populations (e.g., the Ashkenazi Jewish); however, it is suboptimal for other ethnicities or for patients of mixed or unknown ethnic background.

Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing

Traditional carrier screening assays are designed to look for only the most common mutations within a gene owing to cost considerations. Although this can yield high detection rates in specific populations for specific genes (such as cystic fibrosis in Caucasians), they are suboptimal for other ethnicities or for patients of mixed or unknown ethnic background. Next-generation DNA sequencing provides an opportunity to provide carrier screening using more comprehensive mutation panels that are limited primarily by information about the clinical impact of detected sequence changes. We describe a next-generation DNA sequencing-based assay capable of reliably screening patient samples in a timely and comprehensive manner. The analytic accuracy in a research setting has been documented. Here, we describe the additional studies performed to ensure the accuracy (analytic validity) and robustness of our assay for use in clinical practice and provide data from our experience offering this testing. Our clinical experience using this approach to screen 11,691 invitro fertilization patients has identified 449 mutant alleles: 447 in carriers and 2 in an affected individual. In total, we found 87 distinct mutations in 14 different genes. Approximately one quarter of the mutations found are not included in traditional, limited, mutation panels, including 16 known mutations unique to our panel, and novel truncating mutations in several genes.

Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases

Carrier screening for specific genetic disorders is recommended by the American College of Medical Genetics, the American Congress of Obstetricians and Gynecologists and societies representing the Ashkenazi Jewish population. Due to cost considerations and restrictive technologies, traditional carrier screening assays are designed to look for only the most common mutations within a gene. While this can yield high detection rates in specific populations (such as the Ashkenazi Jewish) they are suboptimal for other ethnicities or for patients of mixed ethnic background.

The Diversity and Complexity of the Everyday Lives of Mixed Racial and Ethnic Families

Recent research on mixed racial and ethnic couples and lone parents in Britain indicates that not only are they a diverse group, but they also have a diversity of ways of understanding their difference and creating a sense of belonging for their children (Caballero et al, 2008; Caballero, 2010, 2011). Such research strongly challenges the idea that there is - or should be - a single benchmark of how to raise children from mixed racial and ethnic backgrounds. Nevertheless, placement decisions for this broad group of children are often still rooted in longstanding and politicised assumptions about their identities and how best to instil a positive and healthy sense of self (Phoenix, 1999; Okitikpi, 2005; Goodyer and Okitikpi, 2007; Patel, 2008). Drawing on three recent studies exploring the everyday experiences of lone and couple parents of mixed racial and ethnic children, Chamion Caballero, Rosalind Edwards, Annabel Goodyer and Toyin Okitikpi discuss the ways in which mixed racial and ethnic children who are not in the care system experience difference and belonging within their families, and how they negotiate and manage these factors. In particular, this article illustrates the types of strategies and supports that parents draw on to give their children a positive sense of identity and belonging, as well as the ways in which other issues can be more significant for mixed racial and ethnic children and their parents than what they often see as ‘ordinary’ internal family difference. Arguing that the demographics and experiences of mixed racial and ethnic families are much more diverse and complex than is commonly imagined, the authors ask to what extent policies and practice around the placement of mixed racial and ethnic children reflect the lives of those families outside the care system. Moreover, in what ways can or should the experiences of these families inform policy and practice for those within it? Implications for adoption and fostering practice and policies emerging from this more multifaceted understanding of the everyday lives of racially and ethnically mixed families are also discussed.

Lone mothers of mixed racial and ethnic children in Britain: Comparing experiences of social attitudes and support in the 1960s and 2000s

Synopsis This article places side-by-side the views from lone mothers bringing up children from mixed racial and ethnic backgrounds in mid-1960s and early 2000s Britain, to consider whether the sorts of social attitudes and support these mothers experienced have changed or persisted over the past half century. The analysis compares and contrasts the general social and official attitudes that lone mothers of mixed children feel that they encounter, the support they receive from the fathers of their children, and their relationships with their own and the father's wider family, the neighbourhood and friendship networks they draw on, and the formal supports available to them across time. The article concludes by considering some indicative trajectories of change and constancy that looking at these social attitudes and supports reveals, around negative assessments and their social expression, expectations of fathers, the availability of wider family, and the importance of informal daily support from other mothers in the same situation.

Uptake of the NHS Health Checks programme in a deprived, culturally diverse setting: Cross sectional study

BackgroundThe National Health Service (NHS) Health Checks are an England-wide primary prevention programme designed to lower the national burden of cardiovascular disease. In order to be effective, high risk prevention...

Experiences of an exercise referral scheme from the perspective of people with chronic stroke: a qualitative study

ObjectiveTo explore stroke survivors’ experiences of undertaking exercise in the context of an exercise referral scheme for people with chronic stroke. DesignA qualitative design, using semi-structured interviews within a constructivist framework to explore the experiences of individual participants. Verbatim transcripts were thematically analysed. Rigour mechanisms included respondent validation, peer checking, and reflexivity. SettingAn exercise referral scheme, based at a leisure centre in South London. ParticipantsNine community-dwelling stroke survivors took part; 5 male and 4 female, mean age 51 years (range 37–61 years); time post stroke 1–4 years, with mixed ethnic backgrounds. FindingsParticipants described greater physical and psychological well-being following participation in the exercise referral scheme. Categories that emerged were: improved exercise engagement and confidence, more internalised perceptions of control and enhanced lifestyle, work and social roles. Categories linked to form a master theme, labelled: ‘Exercise Referral Scheme as a catalyst for regaining independence.’ ConclusionsThis study supports the value of exercise referral schemes in enabling people with stroke to engage in exercise. For participants in this study, the scheme seemed influential in the process of regaining independence.

Uptake of the NHS Health Checks programme in a deprived, culturally diverse setting: cross-sectional study

The UK is embarking on a national cardiovascular risk assessment programme called NHS Health Checks; in order to be effective, high and equitable uptake is paramount. A cross-sectional study, using data extracted from electronic medical records of persons aged 35-74 years estimated to be at a high risk of developing cardiovascular disease, to examine the uptake of the Health Checks using logistic regression and statin prescribing. A total of 44.8% of high risk patients invited for a Health Check attended. Uptake was lower among younger men but higher among patients from south Asian (AOR = 1.71 [1.29-2.27] compared with white) or mixed ethnic backgrounds (AOR = 2.42 [1.50-3.89]), and patients registered with smaller practices (AOR = 2.53 [1.09-5.84] <3000 patients compared with 3000-5999). The percentage of patients confirmed to be at high risk of CVD prescribed a statin increased from 24.7 to 44.8%. Uptake of cardiovascular risk assessment and prescribing of statins in high risk patients was considerably lower than projected in the first year of NHS Health Checks programme. Targeting efforts to increase uptake and adherence to interventions in high risk populations and reinvesting resources into population wide strategies to reduce obesity, smoking and salt intake may prove more cost-effective in reducing the burden of cardiovascular disease in the UK.

Long-term Results of an Obesity Program in an Ethnically Diverse Pediatric Population

To determine if beneficial effects of a weight-management program could be sustained for up to 24 months in a randomized trial in an ethnically diverse obese population. There were 209 obese children (BMI > 95th percentile), ages 8 to 16 of mixed ethnic backgrounds randomly assigned to the intensive lifestyle intervention or clinic control group. The control group received counseling every 6 months, and the intervention group received a family-based program, which included exercise, nutrition, and behavior modification. Lifestyle intervention sessions occurred twice weekly for the first 6 months, then twice monthly for the second 6 months; for the last 12 months there was no active intervention. There were 174 children who completed the 12 months of the randomized trial. Follow-up data were available for 76 of these children at 24 months. There were no statistical differences in dropout rates among ethnic groups or in any other aspects. Treatment effect was sustained at 24 months in the intervention versus control group for BMI z score (-0.16 [95% confidence interval: -0.23 to -0.09]), BMI (-2.8 kg/m(2) [95% confidence interval: -4.0-1.6 kg/m(2)]), percent body fat (-4.2% [95% confidence interval: -6.4% to -2.0%]), total body fat mass (-5.8 kg [95% confidence interval: -9.1 kg to -2.6 kg]), total cholesterol (-13.0 mg/dL [95% confidence interval: -21.7 mg/dL to -4.2 mg/dL]), low-density lipoprotein cholesterol (-10.4 mg/dL [95% confidence interval: -18.3 mg/dL to -2.4 mg/dL]), and homeostasis model assessment of insulin resistance (-2.05 [95% confidence interval: -2.48 to -1.75]). This study, unprecedented because of the high degree of obesity and ethnically diverse backgrounds of children, reveals that benefits of an intensive lifestyle program can be sustained 12 months after completing the active intervention phase.

Fetal RHD genotyping by analysis of maternal plasma in a mixed population

Maternal plasma analysis for the determination of the fetal RHD status is an exciting tool for the management of RhD-negative pregnant women, specially sensitized women. We assessed the accuracy of fetal RHD genotyping by analysis of maternal plasma in a multi-ethnic population. We analyzed plasma samples from 88 RhD-negative pregnant women between 11 and 39 weeks of gestation, median age of 28 years old to determine the fetal RHD genotype. This population was from Southeastern Brazil with high mixed ethnic background. Fourteen patients (16%) had anti-D alloantibody. We used Taqman primers and probes to detect by real-time PCR, exons 4, 5, and 10 of RHD. As internal controls we used primers/probes sets to SRY and CCR5. Peripheral or umbilical cord bloods from respective neonates were collected during delivery and hemagglutination was performed. Fifty-eight samples (66%) were genotyped as RHD+, 27 samples (31%) showed complete absence of RHD and 3 samples (3 %) presented a D variant (RHDψ). All the results agreed with the neonatal typing, including the three fetuses with the RHDψ, phenotyped as RhD-negative. Thus, the accuracy of the fetal RHD genotyping in this mixed population was 100%. The earliest pregnancy in which fetal RHD was detected was 11 weeks. Our findings indicate that the accuracy of RHD gene using three regions (exons 4, 5, and 10) can be sufficient for clinical application in a multi-ethnic population. This knowledge helped us on the development of a feasible protocol for fetal RHD genotyping on DNA from maternal plasma for our population.

Pseudoxanthoma Elasticum: A Streamlined, Ethnicity‐based Mutation Detection Strategy

Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1000 mutant alleles have been disclosed thus far. Few population-based studies have reported mutational hotspots in some geographic areas. In this study, we attempted to correlate recurring mutations with the individuals' ethnic origin. Specifically, we plotted our international database of 70 families from distinct or mixed ethnic backgrounds against their mutations. The frequent p.R1141X mutation was distributed widely across Europe, while deletion of exons 23-29 (del23-29) was encountered in Northern Europe and in Northern Mediterranean countries. p.R1138W may be a marker for French descent, evidenced by its presence also in French Canadians. The splice site transition mutation 3736-1G→A was seen in the neighboring countries Greece and Turkey, whereas 2542 delG occurs only in the Japanese. Two mutations seem to be present worldwide without evidence of a founder effect, p.Q378X and p.R1339C, suggesting the presence of mutational hotspots. Knowledge of this distribution will allow us to streamline mutation screening through a targeted, stepwise approach when the ethnicity of a patient is known. This will facilitate the identification of individuals at risk, improving their care to prevent ophthalmological and vascular disease.

Essentialist theory of ‘hybrids’: From animal kinds to ethnic categories and race

This article presents a theory of the perception of hybrids, resulting from cross‐breeding natural animals that pertain to different species and of children parented by couples with a mixed ethnic or racial background. The theory states that natural living beings, including humans, are perceived as possessing a deeply ingrained characteristic that is called ‘essence’ or ‘blood’ or ‘genes’ in everyday discourse and that uniquely determines their category membership. If, by whatever means, the genes or essences of two animals of different species are combined in a hybrid, the two incompatible essences collapse, leaving the hybrid in a state of non‐identity and non‐belonging. People despise this state and reject the hybrid (Study 1). This devaluation effect holds with cross‐kind hybrids and with hybrids that arise from genetically combining animals from incompatible habitats across three cultures: Austria, India and Japan (Study 2). In the social world, groups and ethnic or racial categories frequently are essentialized in an analogue way. When people with an essentialist mindset judge ethnically or racially mixed offspring, they perceive a collapse of ethnic or racial essence and, consequently, denigrate these children, as compared to children from ‘pure’ in‐group or out‐group parents (Study 3). The findings are discussed in terms of the widespread ‘yuck factor’ against genetically modified animals, in terms of the cultural concepts of monstrosity and of racism and prejudice.

Muslim Hadramis in “Christian Ethiopia”: Reflections on Boundary Making Processes

The migration and diasporic formation of Hadramis in the Indian Ocean region has received due consideration lately from the academic community. Despite the recent attention however, scholarly works regarding Hadramis in East Africa remain scant. This article is aimed to redress the imbalance. Based on ethnographic research that was conducted in the East African country of Ethiopia which is traditionally considered as a Christian nation and adopting a historical perspective, the article explores the interactions of Hadramis with the Ethiopian state and the historically dominant Orthodox Christian population. As most Hadramis have returned from Ethiopia to their homeland, this article also explores the experience of second and third generation Hadramis, who upon their return from Africa to their country, Hadramut, have been given a minority status as a result of their mixed ethnic background.

Prevalence of acquired melanocytic naevi in Brazilian schoolchildren

The prevalence of acquired melanocytic naevi (AMN) is one of the most important known risk factors for malignant melanoma (MM) in homogeneous white populations. However, there are few studies on AMN in heterogeneous populations. Insight into the causes of AMN in heterogeneous populations in a country with intense ultraviolet radiation should lead to successful strategies in the prevention of MM. To evaluate the frequency and anatomical distribution of AMN and to observe the influence of environmental and constitutional variables. A cross-sectional study on the prevalence of AMN was performed on 1279 Brazilian schoolchildren, aged 2-8 years, according to an international protocol. Both girls and boys had the same number of AMN. The number of AMN was higher on sun-exposed body sites, such as shoulders, thorax/upper abdomen, face/ears and back. A high number of AMN was associated with lighter skin type, greater sun exposure, age, number of sunburns and presence of freckles. In genetically predisposed people, the body-site distribution of AMN in a heterogeneous population (mixed ethnic backgrounds) is similar to that in a homogeneous population and has the same tendency toward potential proliferation of melanocytes in the presence of ultraviolet radiation. Strategies to reduce the incidence of MM should start at an early age. We believe that these findings will have a direct effect on concepts for preventive strategies. Studies in different populations may serve as a starting point for research into the mechanism underlying increasing rates of AMN.

The persistence of conflict avoidance among the King Island Inupiat

During the summers of 2005 and 2006, a group of Ugiuvangmiut (King Island Inupiat) and western scientists participated in a project entitled “Documenting the Cultural Geography, Biogeography, and Traditional Ecological Knowledge of King Island, Alaska.” The intent was to bring Ugiuvangmiut to King Island in order to document and map place names, as well as archaeological and subsistence sites. Throughout fieldwork, conflicts occurred between scientists, between community members, and between scientists and community members. As the principal investigator, I confronted one conflict in 2005, but my actions exacerbated long-standing tensions within the community and I was later advised by two community members that I should not have confronted the conflict. When conflict occurred again in 2006, instead of confronting the conflict, I chose to take a break from the project for several days. The result was that the overt conflict within the community lessened. Based upon these experiences and other examples, I conclude that conflict avoidance still persists among the Ugiuvangmiut. In addition, I “write against culture” (to borrow Abu-Lughod’s phrase) to explain how my mixed ethnic background and the backgrounds of two community members resulted in actions that run counter to conflict avoidance, showing that there are “multiple, shifting, and competing” cultural values at play. I end with suggestions for scientists conducting fieldwork in the North.

The contribution of group work programmes to early intervention and improving children’s emotional well‐being

Recent government policy has emphasised links between the acquisition of social skills by children and young people and their educational attainment. This study aims to fill a gap in the literature about the contribution of school‐based group work programmes to developing children’s social skills. National Society for the Prevention of Cruelty to Children (NSPCC) Children’s Services Practitioners ran four groups for a total of 38 Year Seven children from mixed ethnic backgrounds in two high schools in the North of England between 2004 and 2007, designed to improve children’s self‐esteem, social skills and behaviour. Parents were involved in identifying objectives and evaluating outcomes. The NSPCC’s aim was to deliver programmes jointly with non‐teaching staff and to train them to take responsibility for delivering future programmes. Pre‐intervention and post‐intervention Behaviour Rating Index for Children questionnaires identified small but significant improvements in teachers’ and parents’ assessments of children’s behaviour. Qualitative data referred to improvements in children’s self‐esteem. However, evaluation data showed that the groups struggled to cope with children with very disruptive behaviour, for whom a wider range of interventions and continuing support were required. Key variables included the quality of liaison between the NSPCC and school staff and the provision of suitable venues. Challenges included harmonising education and social work perspectives and expectations, and avoiding disruption to school curricula.