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Cephalalgia : An International Journal... Oct 2011Data on the association between TNFα and TNFβ gene polymorphisms and migraine are conflicting. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Data on the association between TNFα and TNFβ gene polymorphisms and migraine are conflicting.
METHODS
We performed a systematic review and meta-analysis of studies published until January 2011. We used data from published papers and as provided after contact with the authors. We calculated study specific odds ratios (OR) and 95% confidence intervals (CI) assuming additive, dominant, and recessive genetic models as well as pooled effect estimates.
RESULTS
Among the ten studies identified, the best evidence is available for the TNFα -308G>A and TNFβ 252A > G polymorphisms indicating no overall association with migraine. Subgroup analyses suggested that the A allele of the TNFα -308G > A variant more than doubles the risk for migraine among populations with a heterogeneous ethnic background, which was driven by associations for migraine without aura (additive model: pooled OR = 2.87, 95% CI 1.86-4.43). Further, the risk for migraine with aura was increased among Asian populations (additive model: pooled OR = 1.71, 95% CI 1.07-2.71). Both observed effects were stronger among females than males.
CONCLUSIONS
Our results indicate no overall association between TNFα and TNFβ gene variants and migraine. However, associations differed among specific populations. Our findings need to be treated with caution and further targeted research is warranted to evaluate population-specific effects including population stratification.
Topics: Alleles; Case-Control Studies; Cohort Studies; Confidence Intervals; Cross-Sectional Studies; Ethnicity; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Lymphotoxin-alpha; Male; Migraine Disorders; Models, Genetic; Odds Ratio; Polymorphism, Genetic; Sex Distribution; Tumor Necrosis Factor-alpha
PubMed: 22001640
DOI: 10.1177/0333102411419022 -
Nutrients Jun 2023Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries. We conducted this systematic review to understand gene-diet interactions... (Review)
Review
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries. We conducted this systematic review to understand gene-diet interactions affecting the Southeast Asian population's risk of obesity and diabetes. The literature search was performed on Google Scholar and MEDLINE (PubMed) search engines independently by four reviewers who evaluated the eligibility of articles based on inclusion criteria. Out of 19,031 articles, 20 articles examining gene-diet interactions on obesity and/or diabetes-related traits met the inclusion criteria. Three (Malaysia, Indonesia, and Singapore) out of eleven Association of Southeast Asian Nations (ASEAN) countries have conducted studies on gene-diet interactions on obesity and diabetes. From the 20 selected articles, the most common interactions were observed between macronutrients and genetic risk score (GRS) on metabolic disease-related traits in the Malay, Chinese, and Indian ethnicities. Overall, we identified 29 significant gene-diet interactions in the Southeast Asian population. The results of this systematic review demonstrate ethnic-specific gene-nutrient interactions on metabolic-disease-related traits in the Southeast Asian population. This is the first systematic review to explore gene-diet interactions on obesity and diabetes in the Southeast Asian population and further research using larger sample sizes is required for better understanding and framing nutrigenetic approaches for personalized nutrition.
Topics: Humans; Asia, Southeastern; Diet; Obesity; Singapore; Southeast Asian People; Diabetes Mellitus
PubMed: 37447274
DOI: 10.3390/nu15132948 -
Mycoses Jul 2012Summary There is a biological plausibility on the link between cystic fibrosis transmembrane conductance regulator (CFTR) mutations and allergic bronchopulmonary... (Meta-Analysis)
Meta-Analysis Review
Summary There is a biological plausibility on the link between cystic fibrosis transmembrane conductance regulator (CFTR) mutations and allergic bronchopulmonary aspergillosis (ABPA). The aim of the systematic review was to investigate this link by determining the frequency of CFTR mutations in ABPA. We searched the PubMed and EmBase databases for studies reporting CFTR mutations in ABPA. We pooled the odds ratio (OR) and 95% confidence intervals (CI) from individual studies using both fixed and random effects model. Statistical heterogeneity was evaluated using the I(2) test and the Cochran-Q statistic. Publication bias was assessed using both graphical and statistical methods. Our search yielded four studies (79 ABPA, 268 controls). The odds of encountering CFTR mutation was higher in ABPA compared with the control group (OR 10.39; 95% CI, 4.35-24.79) or the asthma population (OR 5.53; 95% CI 1.62-18.82). There was no evidence of statistical heterogeneity or publication bias. There is a possible pathogenetic link between CFTR mutations and ABPA. However, because of the small numbers of patients, further studies are required to confirm this finding. Future studies should adopt a uniform methodology and should screen for the entire genetic sequence of the CFTR gene.
Topics: Aspergillosis, Allergic Bronchopulmonary; Asthma; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Predisposition to Disease; Humans; Mutation; Publication Bias
PubMed: 21999194
DOI: 10.1111/j.1439-0507.2011.02130.x -
Drug Metabolism Letters 2021Cytochrome P450 (CYP) contributes to a huge collection of medicinal products' Phase I metabolization. We aimed to summarize and investigate the current evidence...
BACKGROUND
Cytochrome P450 (CYP) contributes to a huge collection of medicinal products' Phase I metabolization. We aimed to summarize and investigate the current evidence regarding the frequency of CYP2D6, CYP2C9, CYP2C19, and MDR1 in Saudi Arabia.
METHODS
A computerized search in four databases was done using the relevant keywords. The screening process was done in two steps; title and abstract screening and full-text screening. Data of demographic and characteristics of included studies and patients were extracted and tabulated.
RESULTS
Ten studies were eligible for our criteria and were included in this systematic review. The age of participants ranged between 17-65 years. Only two subjects showed PM phenotype of CYP2C19 in the Saudi population. The most frequent alleles were CYP2C19*1 (62.9%), CYP2C19*2 (11.2%-32%), and CYP2C19*17 (25.7%). The CYP2C19 was observed in 97 cases of extensive metabolizing (EM) phenotype CYP2C19. Concerning the CYP2C9, the most frequent alleles were CYP2C9*1 and CYP2C9*2, and the most frequent genotype was CYP2C9*1*1. The CYP2D6*41 allele and C1236T MDR1 were the most frequent allele in this population.
CONCLUSION
The current evidence suggests that Saudi resembled European in the frequency of CYP2C19, Caucasians in both the incidence of CYP2C9 and CYP2C19, and the absence of CYP2C19. The CYP2D6*41 allele frequency in Saudi is relatively high. We recommend further research to evaluate the basic and clinical relevance of gene polymorphism in such ethnicity.
Topics: ATP Binding Cassette Transporter, Subfamily B; Adolescent; Adult; Aged; Cytochrome P-450 CYP2C19; Cytochrome P-450 CYP2C9; Cytochrome P-450 CYP2D6; Cytochrome P-450 Enzyme System; Gene Frequency; Genetics, Population; Genotype; Humans; Middle Aged; Polymorphism, Genetic; Saudi Arabia; Young Adult
PubMed: 32703145
DOI: 10.2174/1872312814666200722122232 -
Journal of Current Ophthalmology 2023To look for causative genetic mutations in a series of Iranian families with strabismus. In addition, we systematically reviewed all the published articles regarding the... (Review)
Review
Role of Abelson Helper Integration Site 1, Nebulin, and Paired Box 3 Genes in the Development of Nonsyndromic Strabismus in a Series of Iranian Families: Sequence Analysis and Systematic Review of the Genetics of Nonsyndromic Strabismus.
PURPOSE
To look for causative genetic mutations in a series of Iranian families with strabismus. In addition, we systematically reviewed all the published articles regarding the role of genetic variations in primary and nonsyndromic comitant strabismus.
METHODS
Four families with a history of multiple cases of primary and nonsyndromic comitant strabismus were enrolled in this study. Polymerase chain reaction and Sanger sequencing of exons 23, 11, and 3 of the Abelson helper integration site 1 (), nebulin (), and paired box 3 () genes were performed, respectively. One offspring of a consanguineous marriage underwent whole-exome sequencing (WES) to look for possible causative variants. To conduct a systematic review, we thoroughly searched PubMed, Scopus, and ISI Web of Knowledge extracting relevant publications, released by April 2021.
RESULTS
We examined four Iranian strabismus pedigrees with multiple affected offspring in different generations. Among these 17 participants, 10 family members had strabismus and 7 were healthy. Sanger sequencing did not reveal a causative mutation. Therefore, to further investigate, one affected offspring was chosen for WES. The WES study demonstrated two possible variants in and genes. These genetic variants showed high allele frequency in our population and are thought to be polymorphisms in our series of Iranian families.
CONCLUSIONS
We demonstrated that mutations in , , and genes were not common in a series of Iranian patients with familial strabismus. Moreover, by performing WES, we revealed that two variants of uncertain significance as possible causative variants for strabismus are not related to this disease in our population.
PubMed: 38681684
DOI: 10.4103/joco.joco_53_22 -
Clinical Laboratory Aug 2023Blood coagulation disorders are one of the causes of mortality. Therefore, the study of coagulation disorders is also important. This systematic review was conducted to... (Review)
Review
BACKGROUND
Blood coagulation disorders are one of the causes of mortality. Therefore, the study of coagulation disorders is also important. This systematic review was conducted to investigate blood coagulation disorders in the Iranian population.
METHODS
Searches in electronic databases such as Web of Science, PubMed, Scopus, SID, ProQuest, and Magiran from May 10, 1990 to May 10, 2019 were performed according to PRISMA guidelines. Cross-sectional, cohort, experimental, and case-control studies were included according to the inclusion criteria without gender and language restrictions.
RESULTS
After screening and selection, 14 studies were selected for data extraction. Accordingly, the most common blood coagulation disorder in the south of Iran was a defect in FXIII (599 of 1,165). C.559T>C (27 of 189) and c.562T>C (20 of 189) mutations had the highest frequency. The most common FXIII polymorphism among the Iranian Azerbaijanis was Val34Leu (203 of 410). The second most common coagulation disorder was FV Leiden (396 of 1,165). Then, c.1691G>A (151 of 396) was the most common mutation.
CONCLUSIONS
This study shows that the most critical coagulation disorder among the Iranian population is FXIII deficiency and the most common mutation is c.562T>C.
Topics: Humans; Iran; Cross-Sectional Studies; Blood Coagulation Disorders; Polymorphism, Genetic; Mutation
PubMed: 37560866
DOI: 10.7754/Clin.Lab.2023.230119 -
Population Pharmacokinetic Models of Tacrolimus in Adult Transplant Recipients: A Systematic Review.Clinical Pharmacokinetics Nov 2020Numerous population pharmacokinetic (PK) models of tacrolimus in adult transplant recipients have been published to characterize tacrolimus PK and facilitate dose... (Review)
Review
BACKGROUND AND OBJECTIVES
Numerous population pharmacokinetic (PK) models of tacrolimus in adult transplant recipients have been published to characterize tacrolimus PK and facilitate dose individualization. This study aimed to (1) investigate clinical determinants influencing tacrolimus PK, and (2) identify areas requiring additional research to facilitate the use of population PK models to guide tacrolimus dosing decisions.
METHODS
The MEDLINE and EMBASE databases, as well as the reference lists of all articles, were searched to identify population PK models of tacrolimus developed from adult transplant recipients published from the inception of the databases to 29 February 2020.
RESULTS
Of the 69 studies identified, 55% were developed from kidney transplant recipients and 30% from liver transplant recipients. Most studies (91%) investigated the oral immediate-release formulation of tacrolimus. Few studies (17%) explained the effect of drug-drug interactions on tacrolimus PK. Only 35% of the studies performed an external evaluation to assess the generalizability of the models. Studies related variability in tacrolimus whole blood clearance among transplant recipients to either cytochrome P450 (CYP) 3A5 genotype (41%), days post-transplant (30%), or hematocrit (29%). Variability in the central volume of distribution was mainly explained by body weight (20% of studies).
CONCLUSION
The effect of clinically significant drug-drug interactions and different formulations and brands of tacrolimus should be considered for any future tacrolimus population PK model development. Further work is required to assess the generalizability of existing models and identify key factors that influence both initial and maintenance doses of tacrolimus, particularly in heart and lung transplant recipients.
Topics: Adult; Cytochrome P-450 CYP3A; Genotype; Humans; Immunosuppressive Agents; Kidney Transplantation; Liver Transplantation; Models, Biological; Tacrolimus; Transplant Recipients
PubMed: 32783100
DOI: 10.1007/s40262-020-00922-x -
Current Problems in Cardiology Jan 2024Lipoprotein (a) (Lp[a]) is an established risk factor for atherosclerotic cardiovascular disease (ASCVD). However, data on association of Lp(a) with risk of atrial... (Meta-Analysis)
Meta-Analysis Review
Lipoprotein (a) (Lp[a]) is an established risk factor for atherosclerotic cardiovascular disease (ASCVD). However, data on association of Lp(a) with risk of atrial fibrillation (AF) is still limited. We searched PubMed/Medline, Scopus, and EMBASE for studies evaluating the association of Lp(a) with the occurrence of AF until July 2023. Random effects models and I statistics were used for pooled odds ratios (OR), and heterogeneity assessments. A subgroup analysis was performed based on the cohort population, and a one-out sensitivity analysis was performed. This meta-analysis comprised 275,647 AF cases and 2,100,172 Lp(a) participants. An increase in Lp(a) was associated with an increased risk of AF in mendelian randomization (MR) studies (OR 1.024, 95% CI: 1.007-1.042, I = 87.72%, P < 0.001). Leave-one-out sensitivity analysis confirmed equivalent results in MR studies. Subgroup analysis of MR studies revealed a higher risk of AF in the European cohort (OR 1.023, 95% CI: 1.007-1.040, I = 89.05%, P < 0.001) and a low risk (OR 0.940, 95% CI: 0.893-0.990) in the Chinese population. Meta-analysis of the MR data suggested higher levels of Lp(a) were associated with increased risk of AF. Future robust prospective studies are warranted to validate these findings.
Topics: Humans; Atrial Fibrillation; Lipoprotein(a); Mendelian Randomization Analysis; Prospective Studies; Risk Factors
PubMed: 37553064
DOI: 10.1016/j.cpcardiol.2023.102024 -
Genetics in Medicine : Official Journal... Jul 2010To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or... (Review)
Review
PURPOSE
To conduct a systematic review of literature regarding population-based screening for fragile X syndrome in newborns and women of reproductive age, either before or during pregnancy.
METHODS
Seven electronic databases were searched for English language studies published between January 1991 and November 2009. Data extraction was performed for all included studies. Results were synthesized using a narrative approach.
RESULTS
One article that examined offering newborn screening for fragile X syndrome and 10 that examined the offer of fragile X syndrome screening to women of reproductive age were identified. Two of these articles also addressed psychosocial aspects of population screening for fragile X syndrome such as attitudes to screening and experiences of screening, and a further nine addressed these issues alone. Studies exploring psychosocial issues demonstrated challenges for counseling arising from a lack of awareness or personal experience with fragile X syndrome in the general population.
CONCLUSIONS
Targeted counseling and educational strategies will be essential to support women from the general population. It is crucial that future studies offering screening for fragile X syndrome explore a range of psychosocial aspects in addition to looking at uptake of testing and mutation frequency.
Topics: Female; Fragile X Syndrome; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Pregnancy; Prenatal Diagnosis
PubMed: 20548240
DOI: 10.1097/GIM.0b013e3181e38fb6 -
Journal of Clinical Periodontology Dec 2013Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism have been shown to confer genetic susceptibility to chronic periodontitis (CP), but the results... (Meta-Analysis)
Meta-Analysis Review
AIM
Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism have been shown to confer genetic susceptibility to chronic periodontitis (CP), but the results are inconsistent.
MATERIALS AND METHODS
A meta-analysis and systematic review was performed to accomplish a more precise estimation of the relationship.
RESULTS
Pooled estimates revealed that there was no significant association between this polymorphism and CP risk in Caucasian and Asian populations. In addition, it was reported by three Brazilian studies that no significant association was found for this polymorphism with CP risk in a Brazilian mixed population. Besides, there was no significant association of this polymorphism with mild to moderate and severe CP risk in both Caucasian and Asian populations. Moreover, both non-smokers and smokers did not have a significant association between this polymorphism and susceptibility to CP in Caucasian population.
CONCLUSIONS
Matrix metalloproteinase-1 promoter -1607 1G/2G (rs1799750) polymorphism may have no effect on the disease susceptibility of CP in Caucasian, Asian and Brazilian mixed populations. Besides, this polymorphism may not play a direct role in severity of CP among both Caucasian and Asian populations, and between this polymorphism and smoking there may be no interactions to be associated with CP risk in Caucasian population.
Topics: Asian People; Brazil; Chronic Periodontitis; Ethnicity; Genetic Predisposition to Disease; Guanine; Humans; Matrix Metalloproteinase 1; Polymorphism, Genetic; Promoter Regions, Genetic; White People
PubMed: 24134675
DOI: 10.1111/jcpe.12166