ABSTRACT
BACKGROUND: Most individuals diagnosed with diabetes mellitus (about 90%) have type 2 disease (T2DM). T2DM is associated with a high genetic predisposition and is characterized by changes in the secretion and action of insulin. There have been reports of increased activity of the adenosine deaminase enzyme in individuals with coronary heart disease and DM. METHODS: We evaluated 162 patients with T2DM and 160 individuals without the disease. Additionally, a subgroup of 81 individuals at higher risk of developing cardiovascular diseases was formed from the group of patients with diabetes on the basis of their serum levels of high-density lipoprotein cholesterol (HDLc), low-density lipoprotein cholesterol (LDLc) and triglycerides. PCR-RFLP was performed to analyze the TaqI polymorphism G428A of the ADA gene; this technique identifies the ADA*01 and ADA*02 alleles. RESULTS: Genotype frequencies were calculated for three patient groups, as follows. Patients with diabetes: ADA*01;*01 (142/159, 89.3%), ADA*01;*02 (16/159, 10.1%) and ADA*02;*02 (1/159, 0.6%); control group: ADA*01;*01 (146/160, 91.3%), ADA*01;*02 (12/160, 7.5%) and ADA*02;*02 (2/160, 1.3%); patients at risk of cardiovascular disease: ADA*01;*01 (71/78, 91.0%), ADA*01;*02 (7/78, 9.0%) and ADA*02;*02 (0/78, 0.0%). CONCLUSION: No statistically significant differences between the groups were observed in the genotype and allele frequencies. However, this fact does not rule out the need for further studies on the frequencies of this polymorphism in the Brazilian population, on any association with ADA enzyme activity, and on other risk factors that can affect the quality of life of Brazilian patients with T2DM.
Subject(s)
Adenosine Deaminase/genetics , Diabetes Mellitus, Type 2/enzymology , Polymorphism, Genetic , Adenosine Deaminase/metabolism , Adult , Aged , Aged, 80 and over , Brazil/epidemiology , Case-Control Studies , Coronary Artery Disease/enzymology , Female , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Risk FactorsABSTRACT
This study investigated the genetic characteristics of Toxoplasma gondii samples collected from 62 patients with toxoplasmosis in Sao Paulo State, Brazil. DNA samples were isolated from blood, cerebrospinal fluid and amniotic fluids of 25 patients with cerebral toxoplasmosis and AIDS, two patients with acute toxoplasmosis, 12 patients with ocular toxoplasmosis, six newborns with congenital toxoplasmosis and 17 pregnant women with acute infection. Diagnosis of toxoplasmosis was based in clinical, radiological and laboratory features. Genotyping was performed using multilocus PCR-RFLP genetic markers including SAG1, SAG2, 5'- and 3'-SAG2, alt.SAG2, SAG3, BTUB, GRA6, C22-8, c29-2, L358, PK1 and Apico. Among the 62 clinical samples, 20 (32%) were successfully genotyped at eight or more genetic loci and were grouped to three distinct genotypes. Eighteen samples belonged to ToxoDB Genotype #65 and the other two samples were identified as ToxoDB Genotypes #6 and #71, respectively (http://toxodb.org/toxo/). Patients presenting Genotypes #6 and #71 had severe and atypical cerebral toxoplasmosis, characterized by diffuse encephalitis without extensive brain lesions. These results indicate that T. gondii Genotype #65 may have a high frequency in causing human toxoplasmosis in Sao Paulo State, Brazil. This unusual finding highlights the need to investigate the possible association of parasite genotypes with human toxoplasmosis.
Subject(s)
Polymerase Chain Reaction/methods , Polymorphism, Restriction Fragment Length , Toxoplasma/classification , Toxoplasma/genetics , Toxoplasmosis/parasitology , Adolescent , Adult , Aged , Amniotic Fluid/parasitology , Brazil/epidemiology , Child , Child, Preschool , DNA, Protozoan/blood , DNA, Protozoan/cerebrospinal fluid , DNA, Protozoan/isolation & purification , Female , Genetic Markers , Genotype , Humans , Infant , Infant, Newborn , Male , Middle Aged , Pregnancy , Pregnancy Complications, Parasitic/epidemiology , Pregnancy Complications, Parasitic/parasitology , Toxoplasmosis/epidemiology , Young AdultABSTRACT
OBJECTIVE: The aim of this study was to verify if ABO phenotypes are associated with allergic rhinitis. METHODS: 168 patients with allergic rhinitis and 168 control individuals from the same geographical region and paired by gender and age were enrolled in the study. ABO phenotypes were identified in red blood cells using the hemagglutination technique. The Fisher exact and chi-squared tests were employed to compare proportions. Statistical significance was set for an alpha error of 5% (p-value < 0.05). RESULTS: The overall differences in the frequencies of the ABO phenotypes of patients and controls were marginal (χ(2): 7.569; degrees of freedom (DF): 3; p-value = 0.055) however the O blood group was associated with allergic rhinitis (χ(2): 5.764; DF: 1; p-value = 0.016; OR: 1.735; CI 95%: 1.127-2.673). The differences in the frequencies of the O phenotype in patients and controls were statistically different for men (χ(2): 8.520; DF: 1; p-value = 0.003) but not for women (χ(2): 0.6375; DF: 1; p-value = 0.4246). The A phenotype was associated with protection (OR: 0.4385; CI 95%: 0.2043-0.9415; p-value = 0.049) and the O phenotype was associated with susceptibility (OR = 2.789; CI 95%: 1.385-5.616; p-value = 0.005) to allergic rhinitis only for men. CONCLUSION: The O blood group phenotype is associated with allergic rhinitis in male but not in female patients.
