Type 2 diabetes mellitus (T2DM) is a complex disease caused by the interaction between genetic and environmental factors. A growing number of evidence suggests that the peroxisome proliferatoractivated receptor gamma (PPARG) gene plays a major role in T2DM development. Meta-analysis of genetic association studies is an efficient tool to gain a better understanding of multifactorial diseases and potentially to provide valuable insights into gene-disease interactions. The present study was focused on assessing the association between Pro12Ala variation in the PPARG and T2DM risk through a comprehensive meta-analysis. We searched PubMed, WoS, Embase, Scopus and ProQuest from 1990 to 2017. The fixed-effect or random-effect model was used to evaluate the pooled odds ratios (ORs) and 95% confidence intervals (CIs) depending on the heterogeneity among studies. The sources of heterogeneity and publication bias among the included studies were assessed using i 2 statistics and Egger's tests. A total of 73 studies, involving 62,250 cases and 69,613 controls were included. The results showed that the minor allele (G) of the rs1801282 variant was associated with the decreased risk of T2DM under different genetic models. Moreover, the protective effect of minor allele was detected to be significantly more in some ethnicities including the European (18%), East Asian (20%), and South East Asian (18%). And the reduction of T2DM risk in Ala12 carriers was stronger in individuals from North Europe rather than Central and South Europe. Our findings indicated that the rs1801282 variant may contribute to decrease of T2DM susceptibility in different ancestries. Type 2 diabetes mellitus (T2DM) is the most common form of diabetes and is described as a highly prevalent multifactorial disorder 1. According to the recent statistics of the International Diabetes Federation (IDF), the global T2DM epidemic significantly grows at an alarming rate among populations and so it has become a common health problem worldwide 2. Although T2DM usually affects older adults, it is also gradually seen in children, adolescents and younger adults due to increasing levels of obesity, low physical activity and poor diet 3. T2DM is recognized as a major cause of morbidity and leads to premature coronary heart disease progression (CHD), stroke, peripheral vascular disease (PVD), renal failure, and amputation 4. T2DM is characterized by hyperglycemia, impaired insulin secretion (IS) and insulin resistance (IR) that results from the interaction between numerous genes and environmental factors 5,6. The genetic architecture of complex traits is now to be related to several numbers of causal variants. But, the most important common variants show small to modest effect sizes 7,8. Single nucleotide polymorphisms (SNPs), the most common type of genetic variations between individuals, are the key players in precision medicine approach. SNPs are responsible for more than 80 percent of the variation between individuals which makes them ideal for genotype and phenotype asso...

Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A ( EDA ) mutation that is expected to be involved in pathogenesis of HED. Methods Hypohidrotic ectodermal dysplasia genes, including EDA , EDAR and EDARADD , were analyzed using next-generation sequencing (NGS). The detected mutation on the EDA gene was confirmed in the patient and his mother using Sanger sequencing. Results The patient presented with adontia, absence of gum development, hyperthermia and hypohidrosis. Our genetic analysis of the patient revealed a novel frameshift hemizygous mutation (c.898_924 + 8del35ins4CTTA) on the EDA gene. The patient’s mother showed a mild HED phenotype. Direct sequencing of the EDA gene in the region where her son had the mutation showed the same mutation in a heterozygous state. Conclusion We identified a novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked HED. The difference between our patient’s symptoms and those recorded for some previous subjects may be due to the differences in the mutations involved. Electronic supplementary material The online version of this article (10.1186/s11658-019-0174-9) contains supplementary material, which is available to authorized users.

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UNSTRUCTURED The objective of this systematic review is to determine the effect of genetic variants that associate with antidiabetic medications and their efficacy and toxicity in T2DM patients. The understanding may allow interventions for improving management of T2DM and later systematically evaluated in more in-depth studies. We will have performed a comprehensive search using PubMed, Scopus, EMBASE, Web of Sciences and Cochrane database from 1990 to 2018. Relevant journals and references of all included studies will be hand searched to find the additional studied. Eligible studies such as pharmacogenetics studies in terms of drug response and toxicity in the type 2 diabetes patients and performed just on human will be included. Data extraction and quality assessment will be carried out by two independent reviewers and disagreements will be resolved through third expert reviewer. Risk of bias will be assessed with the Cochrane Risk of Bias tool for randomized studies and Newcastle-Ottawa Scale (NOS) for observational Studies. Narrative synthesis will be conducted by the combination of key findings. The results of this study will be submitted to a peer-reviewed journal for publication and also presented at PROSPERO. We expect this review will provide highly relevant information for clinicians, pharmaceutical industry that will benefit from the summary of the best available data regarding the efficacy of antidiabetic medication in the aspect of pharmacogenetics. PROSPERO Registration number (CRD42018104843)

Background: Prostate cancer (PC) is one of the most common cancers among men. Genetic predisposition is emerging as a risk factor for PC development. The Androgen receptor (AR) gene is associated with the development and prognosis of PC. Understanding the AR mutations is very important in the precision treatment of PC-resistant patients to androgen deprivation therapy. In this study, we investigate any association between common AR mutations with the risk of PC.Methods and results: In this case-control study, blood samples were collected from 121 radical prostatectomy (RP) patients who were pathologically diagnosed with PC and 120 benign prostate hyperplasia (BPH) subjects as a control group. The targeted area of the AR gene was amplified by PCR and confirmed by the Sanger sequencing method. The target area of the AR gene screened for 124 alterations in intron 7, 44 mutations in exon 8, and 52 variants in the 3'UTR region. rs113528927 DelIns AC>ACACACCAC had the most frequent mutant alleles between case and control groups, but this genotype distribution among the two recruited groups was not significant. Only one mutation, c.2644C>A, was observed in exon 8 in BPH subjects, and six alterations were detected in 3'UTR.Conclusions: For the first time in the Iranian population, AR common mutations were screened in PC patients, and our results indicate no relationship with the risk of PC, which means that other potential molecular risk factors may be engaged for PC in our population.