Although the angiotensin converting enzyme (ACE) is a strong candidate gene for hypertension, the extensively studied insertion-deletion dimorphism in intron 16 was not found to be associated with it. Several new polymorphisms in the ACE gene were identified, among which a dimorphism in exon 17, ACE G2350A, has a significant effect on plasma ACE concentrations. To assess the value of genotyping the ACE G2350A dimorphism in a genetically homogeneous population, we carried out a retrospective, case-control study of dimorphism G2350A for a putative association with essential hypertension (EH) in a Gulf population (Emirati)-an ethnic group characterized by no alcohol intake and no cigarette smoking. We investigated a sample population of 254 Emirati, comprising 136 normotensive controls, and 118 patients with clinical diagnoses of EH. ACE G2350A alleles were visualized by assays based on polymerase chain reaction and restriction endonuclease analysis. The ACE G2350A dimorphism showed an association with EH (v 2 ¼ 6.71, 2 df, P ¼ 0.05). Further analysis revealed that the ACE G/G 2350 genotype was positively associated (OR ¼ 1.06-3.07, P ¼ 0.02) with EH. This is the first association study of the ACE G2350A dimorphism with EH, and the positive result might indicate that ACE could be a QTL for EH as originally thought.
Otitis media (OM) is an infective and inflammatory disorder known to be a major cause of hearing impairment across all age groups. Both acute and chronic OM result in substantial healthcare utilization related to antibiotic prescription and surgical procedures necessary for its management. Although several studies provided evidence of genetics playing a significant role in the susceptibility to OM, we had limited knowledge about the genes associated with OM until recently. Here we have summarized the known genetic factors that confer susceptibility to various forms of OM in mice and in humans and their genetic load, along with associated cellular signaling pathways. Spotlighted in this review are fucosyltransferase (FUT) enzymes, which have been implicated in the pathogenesis of OM. A comprehensive understanding of the functions of OM-associated genes may provide potential opportunities for its diagnosis and treatment.
Beta-adrenergic receptor antagonists (β-blockers) have been well established for use in portal hypertension for more than three decades. Different Non-selective β-blockers like propranolol, nadolol, timolol, atenolol, metoprolol and carvedilol have been in clinical practice in patients with cirrhosis. Carvedilol has proven 2-4 times more potent than propranolol as a beta-receptor blocker in trials conducted testing its efficacy for heart failure. Whether the same effect extends to its potency in the reduction of portal venous pressures is a topic of on-going debate. The aim of this review is to compare the hemodynamic and clinical effects of carvedilol with propranolol, and attempt assess whether carvedilol can be used instead of propranolol in patients with cirrhosis. Carvedilol is a promising agent among the beta blockers of recent time that has shown significant effects in portal hypertension hemodynamics. It has also demonstrated an effective profile in its clinical application specifically for the prevention of variceal bleeding. Carvedilol has more potent desired physiological effects when compared to Propranolol. However, it is uncertain at the present juncture whether the improvement in hemodynamics also translates into a decreased rate of disease progression and complications when compared to propranolol. Currently Carvedilol shows promise as a therapy for portal hypertension but more clinical trials need to be carried out before we can consider it as a superior option and a replacement for propranolol. Core tip: Carvedilol is a promising agent among the beta blockers of recent time that has shown significant effects in portal hypertension hemodynamics. For primary prophylaxis of variceal bleeding, the effects of carvedilol were compared to band ligation in a few trials and showed some promise, but there has been no comparison with propranolol. Patients not responding to propranolol have shown clinical response to carvedilol, opening a new window of clinical application. For secondary prophylaxis of variceal bleeding, carvedilol has been shown to be effective. However no head-tohead trials comparing propranolol and carvedilol for variceal re-bleeding were found in literature.
Five different isolates of Pakistani cannabis belonging to varying locations were analyzed for the presence of a reported tetrahydrocannabinolic acid (THCA) synthase marker or gene. The amplification of the marker (12 kb) from the five isolates confirmed them to be drug-type since the association of the marker with drug-type cannabis plants had already been established in other reports. The sequence analysis of the THCA synthase marker revealed two single nucleotide polymorphisms (SNPs) (i.e. A851→T851 and A883→C883) specific to Pakistani drug-type cannabis. Furthermore, the predicted protein sequence of the isolated sequences also showed two amino acid substitutions (D284→V284 and T295→P295) corresponding to the identified SNPs. However, the homology based three dimensional models of the inferred proteins generated via Swiss-Model-an automated online server did not project any changes at the active sites of the enzyme (THCA) due to D→V and T→P substitutions. The two missense mutations uncovered as a result of this study may assist in distinguishing the products of Pakistani cannabis among the smuggled materials.
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