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Introduction: Type 2 diabetes mellitus (T2DM) is a metabolic disease characterized by diminished insulin secretion and hyperglycemia leading to damage of multiple organs. The present study is aimed to test the association between type 2 diabetes vascular complications and K469E variant (rs5498) of the intercellular adhesion molecule-1 (ICAM1) gene. Methods: Online databases were searched to retrieve all publications relating to the ICAM1 rs5498 variant in human diabetic vascular complications. In the present meta-analysis, we included all eligible studies and calculated the pooled results using MetaGenyo web tool. Results: Studies concerning ICAM1 gene K469E variant association with either type 2 diabetes or diabetes related vascular complications were included in this meta-analysis. Fifteen articles were included in this analysis (n=10 for T2DM; n=5 for diabetes nephropathy; n=8 for diabetes retinopathy). ICAM1 K469E variant significantly increased the risk of T2DM in the allelic (OR = 1.10, 95% CI: 1.01-1.20, P = 0.032) and recessive models (OR = 1.27, 95% CI: 1.08-1.49, P = 0.004). However, the ICAM1 gene K469E variant is not associated with diabetic nephropathy or diabetic retinopathy. No noticeable evidence of publication bias was detected. Conclusion: In summary, our study indicated that ICAM1 K469E variant was significantly associated with the increased risk of diabetes but not with the diabetic vascular complications.

Background: The microsomal epoxide hydrolase is a phase II enzyme of the biotransformation. The human epoxide hydrolase 1 ( EPHX1) gene lies in the chromosomal region 1q42.1 and exhibits polymorphism. Two single nucleotide polymorphisms (SNPs) have been described in the coding region of the EPHX1 gene that produces two protein variants. Subjects and methods: A total of 604 samples belonging to 13 Indian populations were included in this study. Based on the DSM -IV criteria, 184 individuals from Kota population were classified into alcoholism cases (100) and controls (84). Genotypes of Tyr113His and His139Arg polymorphisms in the EPHX1 gene were determined using PCR and sequencing. Associations were tested using Pearson's χ2 test and haplotype analyses. Results: We found significant association between EPHX1 gene Tyr113His polymorphism and alcoholism in the Kota population (T vs. C: OR = .615, 95% CI = .399-.949, p = .027; TT vs. CC + CT: OR = .536, 95% CI = .297-.969, p = .038). The very slow activity haplotype CA (113His-139His) was also found to be associated with alcohol dependence ( p = .048). Analysis of additional populations demonstrated that the Tyr113His polymorphism significantly deviated from Hardy-Weinberg equilibrium in four populations but only one population deviated for the His139Arg locus. All populations shared the four possible two-site haplotypes. Linkage disequilibrium between these two loci was not significant in any of the population studied. Conclusion: EPHX1 gene polymorphisms and haplotypes are associated with an increased risk for alcoholism in the Kota population. This is the first report from India that will serve as a template for future investigations of the prevalence of EPHX1 alleles in association with various clinical entities. [ABSTRACT FROM AUTHOR]

Velocardiofacial syndrome (VCFS) is one of the most common genetic disorders that affect every major system in the body. The worldwide frequency of VCFS is 1 in 2000 live births. A search using the terms and variants of velo-cardio facial syndrome, VCFS, and disabilities within PubMed, Embase, and Scopus was carried out and restricted to human studies published in English. Further, reference lists were checked to identify relevant studies. The phenotypic spectrum of VCFS overlaps with that of DiGeorge syndrome and includes physical, cognitive, behavioral, and neurological disabilities. The VCFS is caused by hemizygous deletions on chromosome 22q11.2 and usually diagnosed at childhood. Several approaches, such as fluorescence in situ hybridization and polymerase chain reaction-based techniques, have been applied to analyze deleted regions. As majority of the VCFS children have multiple diagnoses, it may need more time to find appropriate combination of medications that will work for them. Treatment for VCFS is always depended on child's age, overall health, medical history, and child's tolerance for specific medications, procedures, or therapies, and parents' opinion or preference.

Introduction: Non-syndromic cleft lip and palate (NSCLP) is one of the most common and challenging congenital deformities worldwide. Previous research has linked the methylenetetrahydrofolate dehydrogenase1 (MTHFD1) gene to orofacial cleft (OFC) susceptibility via a complex metabolism. Studies analyzing the MTHFD1 1958G > A variant and NSCLP are contradictory. This study aims to evaluate the association between the MTHFD1 1958G > A variant and NSCLP by meta-analysis., Methods: PubMed, Web of Science, MEDLINE, and Google Scholar databases were searched to retrieve the eligible studies. A fixed- or random-effect model was used to calculate pooled odds ratio (OR) and 95% confidence interval (CI). All analyses were calculated by Metagenyo software. To detect heterogeneity, the Cochrane Q and I 2 statistics were used. The publication bias was estimated using funnel plots and Egger's test., Results: Our study suggested that the MTHFD1 1958G > A variant allele "A" does not appear to increase the risk of NSCLP (A vs G random effect model: Overall P   = .501, OR  =  1.07, CI  =  0.88-1.31; Asians P   = .245, OR  =  1.29, CI  =  0.84-1.97; Caucasians P   = .658, OR  =  0.95, CI  =  0.76-1.19). Similarly, mutant genotypes also did not exhibit increased risk for NSCLP in the overall populations as well in subgroup analysis by ethnicity (AA  +  AG vs GG: Overall P   = .684, OR  =  1.06, CI  =  0.80-1.39; Asians P   = .240, OR  =  1.47, CI  =  0.77-2.78; Caucasians P   = .923, OR  =  0.99, CI  =  0.85-1.16)., Conclusions: Our data suggest no association between the MTHFD1 1958G > A variant and NSCLP. Additional well-designed studies are needed to better understand the role of MTHFD1 polymorphisms in the etiopathogenesis of NSCLP.

Introduction: Endothelial nitric oxide synthase (eNOS) genes have been implicated in renal hemodynamics as potent regulators of vascular tone and blood pressure. It has been linked to a reduction in plasma nitric oxide levels. Several studies have recently been conducted to investigate the role of NOS3 gene polymorphisms and end-stage renal disease (ESRD). However, the results are still unclear and the mechanisms are not fully defined. As a result, we conducted a meta-analysis to examine the relationship between NOS3 gene polymorphism and ESRD in autosomal polycystic kidney disease (ADPKD) patients., Methods: To assess the relationship between NOS3 gene polymorphism and ESRD, relevant studies published between September 2002 and December 2020 were retrieved from the PubMed (Medline), EMBASE, Google Scholar, and Web of Science databases. The pooled odds ratio (OR) and 95 % confidence interval (CI) were calculated using a fixed-effect model. To assess the heterogeneity of studies, we used Cochrane's Q test and the Higgins and Thompson I2 statistics., Results: Our meta-analysis of 13 studies showed that the presence of the two NOS3 gene polymorphisms significantly increased ESRD risk in ADPKD patients with 4a/b gene polymorphism (aa+ab vs. bb: OR=1.95, 95% CI=1.24-3.09, p=0.004). In addition, no significant association was found between the NOS3 894G>T (Glu298Asp) polymorphism and the risk of ESRD in ADPKD patients (GT+TT vs. GG: OR=1.21, 95% CI=0.93-1.58, p=0.157). There was no evidence of publication bias., Conclusions: The findings of the current meta-analysis suggest that NOS3 intron 4a/b polymorphism plays a vital role in the increasing risk of ESRD in ADPKD patients.