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Epilepsy & Behavior : E&B Jul 2014The association between the C3435T polymorphism in the MDR1 gene and refractory epilepsy remains controversial. The association appears to be influenced by ethnicity and... (Meta-Analysis)
Meta-Analysis Review
The association between the C3435T polymorphism in the MDR1 gene and refractory epilepsy remains controversial. The association appears to be influenced by ethnicity and region. We have performed a systematic review and meta-analysis to assess the link between the MDR1 C3435T polymorphism and refractory epilepsy in the Chinese population. We searched the Cochrane Library, MIDLINE, EMBASE, CBM disc, CNKI, VIP, and WANFANG databases for literature published through August 2013 for case-control studies that evaluated the association between the MDR1 C3435T polymorphism and refractory epilepsy. Twenty-one case-control studies involving 4269 patients (1863 cases in the group with drug-resistant epilepsy and 2406 in the group with drug-responsive epilepsy) were included in the systematic review and meta-analysis. The analysis showed that there were significantly more cases with the MDR1 3435 CC genotype in the group with drug-resistant epilepsy than in the group with drug-responsive epilepsy [odds ratio (OR)=1.50, 95% confidence interval (CI)=1.09-2.06, P=0.01]. In a subanalysis of patients from the southern regions of China, the correlation was not significant [odds ratio (OR)=1.2, 95% confidence interval (CI)=0.89-1.64, P=0.24]. The relationship established in a subset of the Chinese population between the MDR1 C3435T polymorphism and refractory epilepsy will guide epilepsy treatment and development of new AEDs.
Topics: ATP Binding Cassette Transporter, Subfamily B; Asian People; Databases, Factual; Epilepsy; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Polymorphism, Single Nucleotide
PubMed: 24953225
DOI: 10.1016/j.yebeh.2014.05.007 -
Sleep Medicine Reviews Oct 2021Epidemiological and interventional research has highlighted sleep as a potentially modifiable risk factor associated with poor physical and mental health. Emerging... (Meta-Analysis)
Meta-Analysis Review
Epidemiological and interventional research has highlighted sleep as a potentially modifiable risk factor associated with poor physical and mental health. Emerging evidence from (behavioral) genetic research also shows that sleep characteristics are under strong genetic control. With this study we aimed to meta-analyze the literature in this area to quantify the heritability of sleep duration and sleep quality in the general population. We conducted a systematic literature search in five online databases on January 24th 2020. Two authors independently screened 5644 abstracts, and 160 complete articles for the inclusion criteria of twin studies from the general population reporting heritability statistics on sleep duration and/or quality, and written in English. We ultimately included 23 papers (19 independent samples: 45,328 twins between 6 mo and 88 y) for sleep duration, and 13 papers (10 independent samples: 39,020 twins between 16 and 95 y) for sleep quality. Collectively, we showed that 46% of the variability in sleep duration and 44% of the variability in sleep quality is genetically determined. The remaining variation in the sleep characteristics can mostly be attributed to the unique environment the twins experience, although the shared environment seemed to play a role for the variability of childhood sleep duration. Meta-analyzed heritability estimates for sleep duration, however, varied substantially with age (17% infancy, 20-52% childhood, 69% adolescence and 42-45% adulthood) and reporter (8% parent-report, 38-52% self-report). Heritability estimates for actigraphic and Polysomnography (PSG)-estimated sleep were based on few small samples, warranting more research. Our findings highlight the importance of considering genetic influences when aiming to understand the underlying mechanisms contributing to the trajectories of sleep patterns across the lifespan.
Topics: Actigraphy; Adolescent; Adult; Humans; Polysomnography; Self Report; Sleep; Sleep Wake Disorders
PubMed: 33636423
DOI: 10.1016/j.smrv.2021.101448 -
Journal of Biosciences 2022There is growing interest in understanding the genetic mechanisms underlying dyslexia. Accordingly, the literature on dyslexia is replete with shreds of evidence linking...
There is growing interest in understanding the genetic mechanisms underlying dyslexia. Accordingly, the literature on dyslexia is replete with shreds of evidence linking genes and their genetic markers with dyslexia among different populations. Even though genetic inquiries into dyslexia in the Asian population has gained interest in recent years, very little is known about the genes and their polymorphisms associated with dyslexia in the Indian population. To this end, we provide a systematic literature review that yields a dossier of genetic research that manifests the effect of the genes and their polymorphisms associated with dyslexia susceptibility in the Indian population. We conclude that the polymorphisms of the and genes deserve attention in replication studies on the Indian population in order to gain insight into the genetic etiology of dyslexia.
Topics: Asian People; Dyslexia; Genetic Markers; Genetic Predisposition to Disease; Humans; Nerve Tissue Proteins; Polymorphism, Single Nucleotide
PubMed: 36222135
DOI: No ID Found -
Pharmacogenomics Mar 2022Pharmacogenomics (PGx) is a rising scientific area in many countries, such as Brazil. To identify biomarkers, therapeutic areas, probe drugs and regions/ethnicities... (Review)
Review
Pharmacogenomics (PGx) is a rising scientific area in many countries, such as Brazil. To identify biomarkers, therapeutic areas, probe drugs and regions/ethnicities most studied in the country in order to guide future studies. Systematic review of 1060 studies (from 1968 to 2020) comprising 80 genes, six probe drugs and 3,819,233 individuals. and were the most studied genes and metoprolol and dextromethorphan the most studied probe drugs. Oncology was the most studied therapeutic area considering PGx biomarkers. The country's regions and ethnic groups were studied unevenly, with south/southeast and White people over-represented in respect to their demographic relevance, in detriment of the center-west/northeast/north and Black/mixed individuals. Many of the gaps and possible paths to be covered to reach even PGx data are pointed out by this review.
Topics: Brazil; Ethnicity; HLA-B Antigens; Humans; Medical Oncology; Pharmacogenetics
PubMed: 35187980
DOI: 10.2217/pgs-2021-0128 -
International Journal of Surgery... Mar 2018Cystic echinococcosis (CE) represents an increasing public health concern in many parts of the world, including the Middle East. The present study is the first... (Meta-Analysis)
Meta-Analysis Review
Cystic echinococcosis (CE) represents an increasing public health concern in many parts of the world, including the Middle East. The present study is the first systematic review and meta-analysis to assess the seroprevalence rate and population genetic structure of human CE in the eastern Mediterranean region. To estimate the population genetic structure, Echinococcus sequences of the cytochrome oxidase subunit 1 (cox1) gene isolated from countries from this geographical area were retrieved from the GenBank database. An electronic search for articles from 1990 until 2015 was performed using databases PubMed, ScienceDirect, and Scopus. A total of 53 articles reporting on CE seroprevalence and genotyping data met our eligibility criteria and were included in a meta-analysis. The overall CE seroprevalence rates in the general population and in individuals at high risk of infection were estimated using the random-effect model at 7.4% (95% CI = 4.8-10.6) and 10.7% (95% CI = 7.6-14.3), respectively. Risk factors including age group (P < 0.001), dog ownership (P = 0.03), residence area (P < 0.001), and educational level (P = 0.04) showed a statistically significant association with CE seroprevalence. A pairwise fixation index (Fst), used as an estimation of gene flow, suggested a moderate level of genetic differentiation between members of the E. granulosus sensu stricto (G1-G3) complex from Iranian and Turkish metapopulations (Fst = 0.171). The finding of common haplotypes may represent an ancestral transfer of alleles among populations probably during the early stages of animal domestication. The high CE seroprevalence rates found highlight the necessity of implementing appropriate public education for preventive and control strategies, particularly in individuals at high risk of infection; furthermore, our genetic findings reveal novel molecular data concerning microevolutionary events of Echinococcus isolates among Middle East countries.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Animals; Asian People; Cyclooxygenase 1; Dogs; Echinococcosis; Female; Genetic Variation; Genetics, Population; Genotype; Haplotypes; Humans; Iran; Male; Middle Aged; Middle East; Risk Factors; Seroepidemiologic Studies; Turkey; Young Adult
PubMed: 29367032
DOI: 10.1016/j.ijsu.2018.01.025 -
International Journal of Pediatric... Feb 2020Hereditary hearing loss (HL) as a common disorder is genetically heterogeneous, which poses a challenge for clinical and molecular diagnosis. Next-generation sequencing...
BACKGROUND
Hereditary hearing loss (HL) as a common disorder is genetically heterogeneous, which poses a challenge for clinical and molecular diagnosis. Next-generation sequencing (NGS) technologies have proven to be the best solution for mutational screening, even though it is not always conclusive. Here, we have reviewed the results of previously published data on HL mutations identified with NGS, as well as the efficiency of this technology in detecting HL in Iran.
METHODS
A systematic literature review of the PubMed, Google Scholar, Web of Science, and Science Direct databases were conducted for articles published before May 2019. The primary data of these studies, including the number of samples, mutation frequency and so on were extracted.
RESULTS
Seventy-five articles were reviewed, and 10 met our inclusion criteria. Totally 432 unrelated families were included and analyzed for the type and prevalence of the gene mutations and pathogenic variants were discovered in 34 non-syndromic HL (NSHL) genes. Altogether 237 different genetic mutations were detected. However, p. Gln1576Stop in PCDH15 was the most common mutation accounting for 1% of the populations studied. NGS platforms have yielded only a 47.1% molecular diagnosis rate for NSHL etiologies in the Iranian population, which is significantly lower than that identified in the other part of the Middle East.
CONCLUSION
The results showed that NGS platforms can greatly assist and enhance HL diagnosis and improve molecular diagnostic outcome. However, researchers were unable to provide 53% of their Iranian cohort with a molecular diagnosis for their HL. It seems that many rare genes are responsible for the majority of HL in the Iranian cohort. Future explorative investigations utilizing NGS technologies, such as WES, into the Iranian population are warranted.
Topics: Hearing Loss; High-Throughput Nucleotide Sequencing; Humans; Iran; Mutation
PubMed: 31704577
DOI: 10.1016/j.ijporl.2019.109756 -
Acta Obstetricia Et Gynecologica... Jan 2017The aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general... (Meta-Analysis)
Meta-Analysis Review
Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis.
INTRODUCTION
The aim of this study was to review the performance of non-invasive prenatal testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general pregnant population as well as to update the data on high-risk pregnancies.
MATERIAL AND METHODS
Systematic review and meta-analysis. PubMed, Embase and the Cochrane Library were searched. Methodological quality was rated using QUADAS and scientific evidence using GRADE. Summary measures of diagnostic accuracy were calculated using a bivariate random-effects model.
RESULTS
In a general pregnant population, there is moderate evidence that the pooled sensitivity is 0.993 (95% CI 0.955-0.999) and specificity was 0.999 (95% CI 0.998-0.999) for the analysis of T21. Pooled sensitivity and specificity for T13 and T18 was not calculated in this population due to the low number of studies. In a high-risk pregnant population, there is moderate evidence that the pooled sensitivities for T21 and T18 are 0.998 (95% CI 0.981-0.999) and 0.977 (95% CI 0.958-0.987) respectively, and low evidence that the pooled sensitivity for T13 is 0.975 (95% CI 0.819-0.997). The pooled specificity for all three trisomies is 0.999 (95% CI 0.998-0.999).
CONCLUSIONS
This is the first meta-analysis using GRADE that shows that NIPT performs well as a screen for trisomy 21 in a general pregnant population. Although the false positive rate is low compared with first trimester combined screening, women should still be advised to confirm a positive result by invasive testing if termination of pregnancy is under consideration.
Topics: Cell-Free System; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; DNA; Down Syndrome; Female; Genetic Testing; Humans; Pregnancy; Pregnancy, High-Risk; Prenatal Diagnosis; Sensitivity and Specificity; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 27779757
DOI: 10.1111/aogs.13047 -
Journal of Diabetes Research 2020Sub-Saharan Africa (SSA) is observing an accelerating prevalence rate of type 2 diabetes mellitus (T2DM) influenced by gene-environment interaction of modifiable and... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Sub-Saharan Africa (SSA) is observing an accelerating prevalence rate of type 2 diabetes mellitus (T2DM) influenced by gene-environment interaction of modifiable and nonmodifiable factors. We conducted a systematic review and meta-analysis on the heritability and genetic risk of T2DM in SSA.
METHODS
We reviewed all published articles on T2DM in SSA between January 2000 and December 2019 and available in PubMed, Scopus, and Web of Science. Studies that reported on the genetics and/or heritability of T2DM or indicators of glycaemia were included. Data extracted included the study design, records of family history, pattern and characteristics of inheritance, genetic determinants, and effects estimates.
RESULTS
The pattern and characteristics of T2DM heritability in SSA are preference for maternal aggregation, higher among first degree compared to second-degree relatives; early age-onset (<50 years), and inherited abnormalities of beta-cell function/mass. The overall prevalence of T2DM was 28.2% for the population with a positive family history (PFH) and 11.2% for the population with negative family history (NFH). The pooled odds ratio of the impact of PFH on T2DM was 3.29 (95% CI: 2.40-4.52). Overall, 28 polymorphisms in 17 genes have been investigated in relation with T2DM in SSA. Almost all studies used the candidate gene approach with most (45.8%) of genetic studies published between 2011 and 2015. Polymorphisms in , , , , , , and were found to be associated with T2DM, with overlapping effect on specific cardiometabolic traits. Genome-wide studies identified ancestry-specific signals (, , and ) and as the only transferable genetic risk variants to SSA population. polymorphism was investigated in multiple studies with consistent effects and low-moderate statistical heterogeneity. Effect sizes were modestly strong [odds ratio = 6.17 (95% CI: 2.03-18.81), codominant model; 2.27 (95% CI: 1.50-3.44), additive model; 1.75 (95% CI: 1.18-2.59), recessive model]. Current evidence on the heritability and genetic markers of T2DM in SSA populations is limited and largely insufficient to reliably inform the genetic architecture of T2DM across SSA regions.
Topics: Adiponectin; Africa South of the Sahara; Diabetes Mellitus, Type 2; Genetic Predisposition to Disease; Haptoglobins; Humans; Phosphoric Diester Hydrolases; Polymorphism, Single Nucleotide; Potassium Channels, Inwardly Rectifying; Pyrophosphatases; Sulfonylurea Receptors; Transcription Factor 7-Like 2 Protein; Tumor Necrosis Factor-alpha
PubMed: 32685554
DOI: 10.1155/2020/3198671 -
Aging Clinical and Experimental Research Sep 2021Bitter taste receptors (TAS2R) are involved in a variety of non-tasting physiological processes, including immune-inflammatory ones. Therefore, their genetic variations... (Meta-Analysis)
Meta-Analysis Review
Bitter taste receptors (TAS2R) are involved in a variety of non-tasting physiological processes, including immune-inflammatory ones. Therefore, their genetic variations might influence various traits. In particular, in different populations of South Italy (Calabria, Cilento, and Sardinia), polymorphisms of TAS2R16 and TAS238 have been analysed in association with longevity with inconsistent results. A meta-analytic approach to quantitatively synthesize the possible effect of the previous variants and, possibly, to reconcile the inconsistencies has been used in the present paper. TAS2R38 variants in the Cilento population were also analysed for their possible association with longevity and the obtained data have been included in the relative meta-analysis. In population from Cilento no association was found between TAS2R38 and longevity, and no association was observed as well, performing the meta-analysis with data of the other studies. Concerning TAS2R16 gene, instead, the genotype associated with longevity in the Calabria population maintained its significance in the meta-analysis with data from Cilento population, that, alone, were not significant in the previously published study. In conclusion, our results suggest that TAS2R16 genotype variant is associated with longevity in South Italy.
Topics: Genotype; Humans; Longevity; Polymorphism, Single Nucleotide; Receptors, G-Protein-Coupled; Taste
PubMed: 33170488
DOI: 10.1007/s40520-020-01745-3 -
Digestive Diseases and Sciences Nov 2015Hepatitis C virus (HCV) infection in the elderly population is a global medical burden and healthcare utilization concern. The majority of patients with hepatitis C in... (Review)
Review
Hepatitis C virus (HCV) infection in the elderly population is a global medical burden and healthcare utilization concern. The majority of patients with hepatitis C in the USA are "baby boomers," who were born between 1945 and 1965. Consistently worldwide, HCV infection in elderly population is overrepresented and poses public health concerns. These individuals have been infected now for over two decades and are presenting with advanced liver disease. Traditionally, the use of pegylated interferon-based therapy has been limited in the elderly because of its adverse effects. The sustained virologic responses have also tended to be lower in the elderly than in younger adults. The emergence of non-interferon-based therapy with direct acting antiviral agents has expanded the pool of patients eligible for treatment. These agents have been found to be effective, tolerable, and safe in the elderly population.
Topics: Age Factors; Aged; Antiviral Agents; Genotype; Hepacivirus; Hepatitis C, Chronic; Humans; Middle Aged; Patient Selection; Prevalence; Risk Factors; Time Factors; Treatment Outcome
PubMed: 26008618
DOI: 10.1007/s10620-015-3717-6