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.
Hyperglycemia associated with type 1 diabetes (T1D) alters the host immune system, resulting in a predisposition to infectious diseases. The high risk of infection in the diabetic population may lead to life-threatening situations. The early proteins of the alternative complement system pathway, constituting factors P, B, and D, have been shown to play an important role in preventing infection because they form a membrane attack complex (MAC)-C5-9, which debilitates the target microbes and/or molecules via cytotoxic and cytolytic reactions. Patients who are devoid of or contain low levels of these proteins may be susceptible to developing chronic infections. We have observed striking differences in partially fractionated serum proteins in diabetic patients (type 2) relative to controls, through single and two-dimensional gel electrophoresis. Our data, obtained from 50 diabetic patients in the age group of 25-45 years, who had the disease for fewer than 5 years, indicated patterns in low- and high-molecular-weight proteins, which could be grouped into five different categories with minor differences in their respective levels of protein expression. Immunoblot assay could barely detect the presence of properdin expression in diabetic patients. Quantization by ELISA in 99 patients indicated low levels of properdin expression in 70% of 50 diabetic patients (6.5 +/- 3 mug/mL) when compared to nondiabetic controls (19.5 +/- 8.5 mug/mL). This study concluded that patients with low expression of properdin should be advised to take extensive preventive measures and seek early management with appropriate treatments against infection.
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