Genetic disorders in the Arab world.
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ABSTRACT:
SUBMITTER: Al-Gazali L
PROVIDER: S-EPMC1618440 | biostudies-literature | 2006 Oct
REPOSITORIES: biostudies-literature
Publications
Genetic disorders in the Arab world.
Al-Gazali Lihadh L Hamamy Hanan H Al-Arrayad Shaikha S
BMJ (Clinical research ed.) 20061001 7573
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Project description:BackgroundThe prevalence of eating disorders has been assumed to be low in the Arab world, due to the alleged absence of the thin ideal. However, the Arab world is undergoing rapid sociocultural changes, and there are reports of an increase of the desire to be thin. This literature review therefore provides point-prevalence of Arabs at high risk for eating disorders, and a comprehensive synthesis of correlates of eating disorder symptoms, eating disorder-related variables and of a high risk for eating disorders.MethodSeveral electronic databases were searched for published, peer-reviewed studies between 1986 and 2019 involving several key terms. From 317 screened studies, 81, mainly cross-sectional, were included. Preferred Reporting Items for Systematic reviews and meta-analyses was used as guidance and the quality of studies were assessed using the Newcastle-Ottawa scale.ResultsEstimates of individuals at high risk for eating disorders ranged from 2 to 54.8%. The eating disorder-related variables identified were desire to be thin, body dissatisfaction, disturbed-, and dieting- eating behavior. Identified correlates were increased affluence, media use, western influences, and obesity. An additional finding was that in some cases eating disorders were expressed somatically rather than psychiatrically.DiscussionIn the Arab world, females were most at risk for eating disorders and eating disorder symptoms. Sociocultural changes gave rise to the thin ideal and the prevalence of obesity, increasing the risk for the development of eating disorder-related variables and eating disorders. The literature on eating disorders in the Arab world suffers from potential limitations due to the use of non-validated assessment tools. Further research is necessary, particularly on the development and validation of a culturally sensitive assessment tool. Improved knowledge is likely to increase the number of people seeking treatment and decrease the stigma of psychotherapy.
| S-EPMC7646071 | biostudies-literature
Project description:Purpose of reviewThe Arab world is dealing with modernization and sociocultural changes both associated with eating disorders. The present review provides an update of 'Eating disorders in the Arab world: a literature review', which was published in 2020.Recent findingsThere are 22 recent epidemiological studies on eating disorders in five different countries in the Arab world. A large-scale national mental health survey reported a 12-month eating disorder prevalence of 3.2% and an eating disorder lifetime prevalence of 6.1%. Binge-eating disorder was the most common eating disorder (12-month prevalence = 2.1%, lifetime prevalence = 2.6%), 1.6% was at high risk for binge-eating disorder. Overall, between 23.8 and 34.8% was at high risk for any eating disorder. Body-shape dissatisfaction, a high BMI and separated/widowed/single marital status were associated with eating disorder pathology.SummaryAlthough there is still a lack of studies compared to the western world, the number of epidemiological studies on eating disorders in the Arab world is growing and there is an increase in studies using appropriate assessment-tools and norms. It is recommended to offer specialized treatment and to implement preventive programs.
| S-EPMC11426976 | biostudies-literature
Project description:A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.
| S-EPMC5112515 | biostudies-literature
Project description:BackgroundObesity, one of the most common chronic health conditions worldwide, is a multifactorial disease caused by complex genetic and environmental interactions. Several association studies have revealed a considerable number of candidate loci for obesity; however, the genotype-phenotype correlations remain unclear. To date, no comprehensive systematic review has been conducted to investigate the genetic risk factors for obesity among Arabs.ObjectivesThis study aimed to systematically review the genetic polymorphisms that are significantly associated with obesity in Arabs.MethodsWe searched four literature databases (PubMed, Science Direct, Scopus, and Google Scholar) from inception until May 2020 to obtain all reported genetic data related to obesity in Arab populations. Quality assessment and data extraction were performed individually by three investigators.ResultsIn total, 59 studies comprising a total of 15,488 cases and 9,760 controls were included in the systematic review. A total of 76 variants located within or near 49 genes were reported to be significantly associated with obesity. Among the 76 variants, two were described as unique to Arabs, as they have not been previously reported in other populations, and 19 were reported to be distinctively associated with obesity in Arabs but not in non-Arab populations.ConclusionsThere appears to be a unique genetic and clinical susceptibility profile of obesity in Arab patients.
| S-EPMC8380539 | biostudies-literature
Project description:The autosomal recessive inherited Krabbe disease (KD) is a devastating pediatric lysosomal storage disorder affecting white matter of the brain. It is caused by mutations in the gene coding for the lysosomal enzyme galactocerebrosidase. While most patients present with symptoms within the first 6 months of life, others present later in life throughout adulthood. The early infantile form of KD (EIKD) is frequent in the Muslim Arab population in Israel, with a very high prevalence of approximately 1/100 to 1/150 live births. The homozygous variant c.1582G > A (p.D528N) was found to be responsible for EIKD in Palestinian Arab patients. KD was reported in different Arab countries with much lower frequency. While most Arab patients presented with EIKD, late infantile and late onset KD forms were also reported. Most Arab patients presented with variable symptoms ranging from EIKD to late onset KD, with variable clinical findings. Based on literature studies, this review focuses on the clinical and molecular findings of KD patients with Arab ancestry, and highlights the need for developing universal genetic screening programs to overcome the under-reported status of KD prevalence in Arabia. This is expected to improve the prognosis of the disease and promote targeted molecular diagnostics to the Arab patients.
| S-EPMC4906415 | biostudies-literature
Project description:BackgroundFamily interventions in schizophrenia are evidence based and have been adapted to different cultural settings to improve their effectiveness and acceptability. The Arab world has a unique set of socio-cultural norms and values that cannot be ignored when developing or implementing such interventions. There is a lack of research on the feasibility of delivering family interventions for schizophrenia in the Arab region. The aim of this review is to synthesise the available evidence about culturally-adapted psychosocial family interventions in the Arab world. The review identifies the content and characteristics of these interventions, determines the strategies used to adapt them to Arab culture successfully, assesses the feasibility and acceptability of the interventions, and evaluates the effectiveness of these interventions for service users and their families.MethodFive electronic databases were searched including MEDLINE, CINAHL, Cochrane Library, PsycINFO and EMBASE for articles written in Arabic and English from inception to August 2019. Data were extracted and synthesised narratively.ResultsSix studies were retrieved from the search: three randomised control studies, two non-randomised studies and one qualitative study. There is limited evidence about culturally-adapted family interventions in the Arab region. However, the cultural adaptation process was comprehensive, and the implementation was reported to be feasible and acceptable. The methodological quality of the included studies was generally poor, so there is a risk of underestimating the effect size of the interventions due to lack of rigour and the presence of bias.ConclusionThe present review provides the foundation for future work regarding family interventions in the Arab world, and confirms the feasibility of implementing such interventions with some modifications. Furthermore, the data suggests that any family-oriented intervention for schizophrenia is likely to be better than standard care in improving the outcome for patients and their families.
| S-EPMC7441715 | biostudies-literature
Project description:Genetic eye diseases are phenotypically and genetically heterogeneous, affecting 1 in 1,000 people worldwide. This prevalence can increase in populations where endogamy is a social preference, such as in Arab populations. A retrospective consecutive cohort of 91 patients from 74 unrelated families affected with non-syndromic and syndromic inherited eye disease presenting to the ocular genetics service at Moorfields Eye Hospitals United Arab Emirates (UAE) between 2017 and 2019, underwent clinically accredited genetic testing using targeted gene panels. The mean ± SD age of probands was 27.4 ± 16.2 years, and 45% were female (41/91). The UAE has a diverse and dynamic population, and the main ethnicity of families in this cohort was 74% Arab (n = 55), 8% Indian (n = 6) and 7% Pakistani (n = 5). Fifty-six families (90.3%) were genetically solved, with 69 disease-causing variants in 40 genes. Fourteen novel variants were detected with large deletions in CDHR1 and TTLL5, a multiexon (1-8) duplication in TEAD1 and 11 single nucleotides variants in 9 further genes. ABCA4-retinopathy was the most frequent cause accounting for 21% of cases, with the confirmed UAE founder mutation c.5882G>A p.(Gly1961Glu)/c.2570T>C p.(Leu857Pro) in 25%. High diagnostic yield for UAE patients can guide prognosis, family decision-making, access to clinical trials and approved treatments.
| S-EPMC8432150 | biostudies-literature
Project description:Visual impairment due to inherited ophthalmic disorders is amongst the most common disabilities observed in populations practicing consanguineous marriages. Here we investigated the molecular genetic basis of an unselected broad range of ophthalmic disorders in 20 consanguineous families from Arab villages of Israel and the Palestinian Authority. Most patients had little or very poor prior clinical workup and were recruited in a field study. Homozygosity mapping followed by candidate gene sequencing applying conventional Sanger sequencing or targeted next generation sequencing was performed in six families. In the remaining 14 families, one affected subject per family was chosen for whole exome sequencing. We discovered likely disease-causing variants, all homozygous, in 19 of 20 independent families (95%) including a previously reported novel disease gene for congenital nystagmus associated with foveal hypoplasia. Moreover, we found a family in which disease-causing variants for two collagenopathies - Stickler and Knobloch syndrome - segregate within a large sibship. Nine of the 19 distinct variants observed in this study were novel. Our study demonstrated a very high molecular diagnostic yield for a highly diverse spectrum of rare ophthalmic disorders in Arab patients from Israel and the Palestinian Authority, even with very limited prior clinical investigation. We conclude that 'genetic testing first' may be an economic way to direct clinical care and to support proper genetic counseling and risk assessment in these families.
| S-EPMC7253446 | biostudies-literature
Project description:BackgroundDepression, schizophrenia and panic disorder are common mental disorders in the community and hospitalized patients. These mental disorders negatively affect life quality and even expectancy of life. Haptoglobin (Hp) phenotype (Hp 1-1, 1-2, or 2-2) is associated with risk for cardiovascular diseases, but its association with psychiatric disorders, a growing concern in the modern society, has not been studied thoroughly. The aim of the study was to examine whether Hp phenotype is associated with common mental disorders such as depression, schizophrenia, and panic disorder.MethodsThe study included 92 Arab patients with mental disorders, and among them 44 suffered from schizophrenia (mean age 39 ± 1.5 years), 17 from depression (mean age 44.5 ± 3.1 years), 31 from panic disorder (mean age of 44.9 ± 2.7 years), and 206 healthy Arab control subjects with a mean age of 42.6 ± 0.9 years. Beck's depression inventory assessment and Hamilton depression scale were administered for depression and panic disorder diagnosis. Schizophrenia was evaluated with positive and negative affect schedule (Panas) test. All mental disorders were evaluated by clinical review. Blood analysis for Hp phenotype was performed. Diagnosis was made using the Diagnostic and Statistical Manual of Mental Disorders axis to correlate depression with Hp phenotype.ResultsIn mentally healthy controls, 10.7% were Hp 1-1, 38.8% Hp 2-1, and 50.5% Hp 2-2. In patients with the studied psychiatric disorders, Hp phenotype was comparable to healthy subjects; 8.7% were Hp 1-1, 50% Hp 2-1, and 41.3% Hp 2-2. When Hp phenotyping was analyzed in the psychiatric subgroups, Hp 2-1 was more common among depressed and schizophrenic patients, as compared with healthy subjects (58.8% and 52.3% vs. 38.8%). In patients who suffer from panic disorder, Hp phenotype distribution was 6.5% Hp 1-1, 41.9% Hp 2-1, and 51.6% Hp 2-2, suggesting a lower prevalence among Hp 1-1 phenotype.ConclusionsArab patients who carry Hp 2-1 phenotype may be at risk to develop depression or schizophrenia more than the general healthy population. In contrast, Hp 1-1 subjects have a lower prevalence of panic disorder.
| S-EPMC5798265 | biostudies-literature
Project description:To carry out population genetics analyses of the Arctic gregion we carried out Illumina Bead-Array-based enotyping on 18 samples from Greenland. 19 samples were analysed with the Illumina platform Human660W-Quad v1.0 Genotyping BeadChip and are described herein.
2014-08-28 | E-GEOD-59546 | biostudies-arrayexpress