[Show abstract][Hide abstract] ABSTRACT: Several lines of evidence are implicating an increased persistence of apoptotic cells in patients with asthma. This is largely due to a combination of inhibition, or defects in the apoptotic process and/or impaired apoptotic cell removal mechanisms. Among apoptosis-inducing genes, an important role is played by p53. In the present study, we have investigated the possible relationship between p53 codon 72 polymorphism and asthma and the interaction with ACP1, a genetic polymorphism involved in the susceptibility to allergic asthma. We studied 125 asthmatic children and 123 healthy subjects from the Caucasian population of Central Italy. p53 codon 72 and ACP1 polymorphisms were evaluated using a restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method. There is a statistically significant association between p53 codon 72 polymorphism and allergic asthma: Arg/Arg genotype is more represented in asthmatic patients than in controls (P=0.018). This association, however, is present in subjects with low ACP1 activity A/A and A/B only (P=0.023). The proportion of children with A/A and A/B genotype carrying Arg/Arg genotype is significantly high in asthmatic children than in controls (OR=1.941; 95% C.I. 1.042-3.628). Our finding could have important clinical implications since the subjects with A/A and A/B genotypes of ACP1 carrying Arg/Arg genotype are more susceptible to allergic asthma than Pro/Pro genotype.
[Show abstract][Hide abstract] ABSTRACT: Background: Common biological features between cancer and atherosclerosis suggest possible association of p53 with atherosclerotic diseases, but data on such a relationship are controversial, suggesting interactions with other variables. Acid phosphatase locus 1 (ACP1) is a polymorphic gene that controls the synthesis of an enzyme involved in important metabolic functions. Since ACP1 is associated with coronary artery disease (CAD), we searched for possible interactions between this enzyme and p53 codon 72 polymorphism with regard to their effects on susceptibility to CAD. Material/Methods: The study included 381 patients admitted to the hospital for cardiovascular disease (232 patients with CAD and 149 with other cardiovascular problems) and 97 healthy newborns. Results: The proportion of subjects carrying the *Pro allele of p53 codon 72 and the high activity *B*C genotype of ACP1 is higher in CAD (10.3%) than in non-CAD patients (2.0%) and in healthy newborns (6.2%). Conclusions: The data suggest an interaction between p53 codon 72 and ACP1 wherein a positive effect of the p53 *Pro allele on susceptibility to CAD occurs, but only in the presence of the ACP1 genotype characterized by high enzymatic activity.
Medical science monitor: international medical journal of experimental and clinical research 12/2012; 18(12):CR712-715. · 1.36 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: OBJECTIVE: The season of conception affects human reproduction, intrauterine growth, neonatal parameters, sex ratio, cognitive development and, in adult life, performance in many fields. Associations between polymorphic enzymes and season of conception have been also reported. In this study we searched for a possible association between season of conception and adenylate kinase locus 1 (Ak(1)). STUDY DESIGN: Two samples of 381 and 248 consecutively newborn infants from two Italian cities with different geographical positions and climatic conditions were considered. Three way contingency table analysis and Student t-test analysis were performed. RESULTS: Ak(1)2-1 phenotype is more frequent in males conceived in the summer-autumn period than in those conceived in winter-spring and this association depends on maternal Ak(1) phenotype (p=0.001). There is also an interaction between season of conception and Ak(1) phenotype concerning their effects on sex ratio and birth weight. CONCLUSION: The present data suggest a complex interaction involving seasonal cycles, maternal and foetal Ak(1) genotype and sex of foetus concerning their effects on intrauterine selection and neonatal parameters.
European journal of obstetrics, gynecology, and reproductive biology 11/2012; · 1.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Recent studies on healthy puerperae suggest that Adenylate kinase locus 1 (Ak(1)) genetic polymorphism could be involved in intrauterine selection. In this article, we have searched for a possible relationship between Ak(1) polymorphism and spontaneous abortion.
178 women with primary repeated spontaneous abortion (RSA), 487 healthy consecutive puerperae, 251 puerperae with diabetes, and 361 consecutive healthy female newborns from the White Caucasian population of Central Italy delivered at the Maternal Department have been studied. In these subjects, Ak(1) phenotype was determined to study the relationship between this enzyme and spontaneous abortion.
The proportion of Ak(1)2-1 phenotype is higher in women with history of two or more spontaneous abortion than in puerperae with a negative history of spontaneous abortion and in female newborns infants (O.R. 1.930; 95%C.I. 1.113-3.280). Moreover, RSA women carrying the Ak(1)2-1 phenotype have a reduced probability of having live-born infants.
Our findings suggest a reduced reproductive efficiency of women carrying the Ak(1)2-1 phenotype: this observation could have practical importance in predicting the probability of reproductive success in couples with RSA and in the practice of in vitro fertilization.
American Journal of Human Biology 03/2012; 24(2):186-8. · 2.34 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Recently, it has been shown that PTPN22 genetic polymorphism is associated with phenotypes related to the risk of atherosclerosis. In the present note, we have searched for a possible association of PTPN22 polymorphism with coronary artery disease (CAD).
One hundred and thirty-four non-diabetic subjects admitted to hospital for CAD and 174 healthy subjects (blood donors) were studied. PTPN22 genotypes were determined by DNA analysis. Statistical analyses were performed by SPSS programs.
In CAD patients, the proportion of carriers of the *T allele of PTPN22 is significantly higher compared to healthy controls (OR 2.66; 95% CI 1.07-6.72).
The present observation confirms the association of PTPN22 phenotype with atherosclerosis and suggests a role of immune mechanism in the pathogenesis of CAD.
[Show abstract][Hide abstract] ABSTRACT: The negative effects of cigarette smoking on human reproduction and on birth weight are well documented. On the other hand ABO system, encoding for glycosyltransferases, contributes to biosynthesis of antigens and oligosaccharide structures involved in blastocyst adhesion and intrauterine selection. In this paper we have searched for possible interaction between ABO system and smoking concerning their effects on maternal age at child bearing and on birth weight.
We have studied 395 consecutive healthy puerperae from the White Caucasian population of Rome. ABO blood group was determined by standard laboratory methods. Three-way contingency table analysis was performed according to Sokal and Rohlf and Chi square test of independence by SPSS programs.
The proportion of smokers is higher in A phenotype than in other ABO types among young puerperae (≤ 24 years) while it is lower in A phenotype than in other types among older women. The negative effects of smoke on birth weight is much more evident in women with A blood group than in women carrying other ABO phenotypes. The interaction between smoking and ABO blood groups concerning their effects on birth weight is influenced by gender of newborn and by maternal age.
ABO blood groups and smoking could have a joint influence on maternal age at child bearing and on birth weight.
European journal of obstetrics, gynecology, and reproductive biology 08/2011; 159(1):83-6. · 1.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Fucosyltransferase locus 2 (FUT2) controls the presence or absence of blood group substances (A, B, H) in the saliva and other body secretions. Secretor/non-secretor phenotypes are associated with some metabolic and infectious diseases. ABO and FUT2 contribute to build up oligosaccharide structures of the cell surface that are important for blastocyst adhesion and resistance to microbial invasion. We investigated a possible selection on ABH secretor phenotypes during intrauterine life.
Three hundred and fifty-six consecutive healthy puerperae and their newborn infants from the caucasian population of Rome were studied. Informed consent for study participation was obtained from the mothers to participate and the study was approved by the Institutional Review Board. ABH secretor Se phenotype was determined on saliva by standard laboratory procedure.
Symmetry analysis of mother infant Se phenotype revealed a deficit of mother Se+/newborn Se- with respect to expected values. The asymmetry is present only in infants carrying the A blood group antigen. The asymmetry was dependent on several maternal and neonatal parameters including maternal age, smoke, parity and gestational duration.
The data suggest intrauterine selection against Se- of the embryo carried by a Se+ mother. Such selection is dependent on factors influencing the maternal environment. The study could have practical importance in assessing the risk of infertility and success of artificial insemination.
European journal of obstetrics, gynecology, and reproductive biology 11/2010; 154(1):20-3. · 1.97 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Previous separate studies have shown associations of coronary artery disease (CAD) with acid phosphatase locus 1 (ACP1) and adenosine deaminase locus 1 (ADA1) genetic polymorphisms. Because it is known that the 2 systems interact and have important immunologic and metabolic functions, these 2 genes were both examined in the same sets of subjects.
Two-hundred forty subjects with CAD, 156 subjects with cardiovascular diseases without CAD, 279 subjects with Non Insulin Dependent Diabetes Mellitus (NIDDM) without CAD and 771 consecutive healthy newborn infants have been studied.
The association of ACP1 and ADA1 with CAD depends on sex and diabetes. In particular, the association between ADA1 and CAD is present in nondiabetic subjects only, and it is dependent on sex (males), whereas the association of CAD with ACP1 is present in diabetic subjects only, and it is dependent on sex (females).
The fact that the association of ACP1 with CAD is evident only in diabetic subjects, whereas the association of ADA1 with CAD is evident only in nondiabetic subjects suggests an heterogeneity in the pathogenetic mechanisms leading to CAD. In addition, the association with sex that could be based on hormonal differences is in favor of heterogenity.
The American Journal of the Medical Sciences 08/2010; 340(2):103-8. · 1.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Night-shift work is associated with ischaemic cardiovascular disorders. It is not currently known whether it may be causally linked to metabolic syndrome (MS), a risk condition for ischaemic cardiovascular disorders. The syndrome presents with visceral obesity associated with mild alterations in glucidic and lipidic homeostasis, and in blood pressure. The aim of this study was to assess whether a causal relationship exists between night-shift work and the development of MS.
Male and female nurses performing night shifts, free from any component of MS at baseline, were evaluated annually for the development of the disorder during a 4-year follow-up. Male and female nurses performing daytime work only, visited during the same time period, represented the control group.
The cumulative incidence of MS was 9.0% (36/402) among night-shift workers, and 1.8% (6/336) among daytime workers (relative risk (RR) 5.0, 95% CI -2.1 to 14.6). The annual rate of incidence of MS was 2.9% in night-shift workers and 0.5% in daytime workers. Kaplan-Meier survival curves of the two groups were significantly different (log-rank test; p<0.001). Multiple Cox regression analysis (forward selection method based on likelihood ratio) showed that among selected variables (age, gender, smoking, alcohol intake, familiar history, physical activity, and work schedule) the only predictors of occurrence of MS were sedentariness (hazard ratio (HR) 2.92; 95% CI 1.64 to 5.18; p = 0.017), and night-shift work (HR 5.10; 95% CI 2.15 to 12.11; p<0.001).
The risk of developing MS is strongly associated with night-shift work in nurses. Medical counselling should be promptly instituted in night-shift workers with the syndrome, and in case of persistence or progression, a change in work schedule should be considered.
Occupational and environmental medicine 09/2009; 67(1):54-7. · 3.64 Impact Factor