ABSTRACT
BACKGROUND: Ischemic stroke descent has a genetic basis. Stroke represents a complex trait, which is assumed to be polygenic. On this topic, the role of a wide number of candidate genes has been investigated in stroke through association studies. MATERIALS AND METHODS: We performed a literature-based systematic review of genetic association studies in stroke abound several populations. Odds ratios (ORs) and 95% confidence intervals (CIs) were determined for each gene-disease association. Following a review of 300 manuscripts, five candidate gene variants were analyzed among 152,797 individuals (45,433 cases and 107,364 controls). RESULTS: For these five candidate genes studied, the prothrombin OR is 1,57 (1,23-2,89), the factor V Leiden OR is 1,43 (0,67-6,24), the mean OR of angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphism is 1,11 (1,02-1,25), the summary OR for the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR) is 1,23 (0,61-1,47) and the pooled OR for the apolipoprotein E (APOE) gene is 0,95 (0,77-1,14) . CONCLUSION: These data suggest the genetic associations of some genes with ischemic stroke and it is necessary to compete with other genes. Our findings could represent an epidemiological base and a useful tool to address further molecular investigations and to realize more detailed meta-analyses.
ABSTRACT
Prader–Willi syndrome (PWS) is neurogenetic disorder involving the imprinting mechanism at 15q11–13 region. We report a 4-year-old girl who was referred to our laboratory to be investigated for clinical obesity, mental deficiency and respiratory problems. The patient was born for non-consanguineous and healthy biological parents. After normal pregnancy, the patient was delivered by cesarean section at full term, with a birth weight of 2500 g, and the height and head circumference were unknown. In neonatal stage, she presented severe hypotonia with feeding problems. Her developmental progress was delayed. She walked and developed speech at the age of 3 years. Since the age of 3 years, she presented severe dental problems. Methylation study had confirmed the diagnosis, and for detecting etiology, fluorescence in situ hybridization using probes for small nuclear ribonucleoprotein polypeptide N (SNRPN), which map inside the chromosomal region 15q11–15q13, was necessary to confirm the 15q11–15q13 deletion of paternal chromosome 15, which is the predominant genetic defect in PWS. In conclusion, we report this case with an objective to reinforce the necessity of analysis of DNA methylation within the 15q11–13 region, which is an important tool for the correct diagnosis among children presenting with neonatal hypotonia, mental deficiency and obesity.