Anna Neri

University of Rome Tor Vergata, Roma, Latium, Italy

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Publications (19)28.07 Total impact

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    ABSTRACT: Background: The possible association between allergy and neoplastic disorders has been the subject of many investigations but no general relationship has been determined. Little attention, however, has been paid to the possible role of allergy in the clinical manifestations of these diseases. In this study, the role of allergy in the susceptibility to uterine leiomyomas and in their growth was investigated. Interaction with ACP1, a genetic polymorphism associated with the growth of leiomyomas, has been also considered. Methods: Two hundred and three White woman from the population of Rome hospitalized for symptomatic leiomyomas requiring surgical intervention have been studied. One hundred thirty eight healthy women have been considered as controls. Allergy has been evaluated by prick test. T-test for equality of means, analysis of variance and linear correlation analysis has been performed. The level of statistical significance was set at 0.05. Results: The frequency of allergic manifestations in women with leiomyomas does not differ from healthy women. The dimension of leiomyomas is lower in allergic than in non allergic women (p=0.004). The ACP1 ∗B/∗B genotype and allergy cooperate in lowering the dimension of leiomyomas; the proportion of woman with small leiomyomas (<10 percentile) is much higher in allergic women carrying the ∗B/∗B genotype as compared to other women (p<0.001). About 8% of variance of leiomyomas dimension is attributable to the joint effect of ACP1 and allergy. Conclusion: Allergic women with high concentration of ACP1 f isoform (∗B/∗B genotype) are protected from excessive leyomioma growth. If confirmed in other clinical settings, our observation may have practical importance in identifying women at risk of more severe clinical manifestations.
    No preview · Article · Oct 2015
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    ABSTRACT: Association between p53 codon 72 and endometriosis has been observed in populations of East Asia but not in those of European descent. Genetic polymorphisms could interact with p53 codon 72 influencing its association with endometriosis, thus explaining these differences among populations. 130 women hospitalized for endometriosis and a sample of 250 women without endometriosis have been studied. All women were from the White population of Rome. ACP1, PTPN22, ADA6 and p53 codon 72 genotypes were determined by DNA analysis. Statistical analysis was performed by SPSS package. Three-way contingency table analyses were performed by a log linear model according to Sokal and Rohlf. There is an epistatic interaction among ADA6, p53 codon 72 and endometriosis resulting in a positive association between carriers of *Pro allele of p53 codon 72 and endometriosis in women carrying the ADA6 *1 allele. PTPN22 and ACP1 show an additive effect with p53 codon 72 concerning their effect on endometriosis. The strength of association between p53 codon 72 and endometriosis is positively correlated with the number of the three factors considered. ADA6, PTPN22 and ACP1 are involved in immune reactions: since endometriosis has an autoimmune component, a cooperative interaction among these genetic systems appears biological plausible. The present result could contribute to explain the differences observed among populations concerning the association between p53 codon 72 and endometriosis.
    No preview · Article · Jul 2015 · Archives of Gynecology
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    ABSTRACT: Liver has a principal role in glucose regulation and lipids homeostasis. It is under a complex control by substrates such as hormones, nutrients and neuronal impulses. Insulin promotes glycogen synthesis, lipogenesis and lipoprotein synthesis, and inhibits gluconeogenesis, glycogenolysis, and VLDL secretion by modifying the expression and enzymatic activity of specific molecules. To understand the pathophysiologic mechanisms leading to metabolic-liver disease, we analyzed liver protein patterns expressed in a mice model of diabetes by proteomic approaches. We used insulin receptor knockout (IR(-/-)) and heterozygous (IR(+/-)) mice as a murine model of liver metabolic dysfunction associated with diabetic ketoacidosis and insulin resistance. We evaluated liver fatty acid levels by microscopic examination and protein expression profiles by orthogonal experimental strategies using protein 2-DE MALDI-TOF/TOF and peptic nLC-MS/MS shotgun profiling. Identified proteins were then loaded into Ingenuity Pathways Analysis to find possible molecular networks. Twenty-eight proteins identified by 2-DE analysis and 24 identified by nLC-MS/MS shotgun, were differentially expressed among the 3 genotypes. Bioinformatic analysis revealed a central role of High Mobility Group Box 1/2 and huntigtin never reported before in the association with metabolic and related liver disease. A different modulation of these proteins both in blood and hepatic tissue further suggests their role in these processes. These results provide new insight into pathophysiology of insulin resistance and hepatic steatosis, and could be useful in identifying novel biomarkers to predict risk for diabetes and its complications. Copyright © 2015, American Journal of Physiology - Endocrinology and Metabolism.
    Full-text · Article · Feb 2015 · AJP Endocrinology and Metabolism
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    ABSTRACT: Aims T1D has been found associated with PTPN22 and with ACP1–ADA1 joint genotype. In the present note we have collected further data to evaluate the relative importance of the two systems and to search for possible interaction of PTPN22 with ACP1–ADA1 joint genotype. Methods We have studied 314 children with T1D and 770 controls from the White population of Central Italy. ACP1, ADA1 and PTPN22 genotypes were determined by DNA analysis. Chi square test of independence was performed by SPSS program and three way contingency analysis by a log-linear model. Results Both carriers of *T allele of PTPN22 and subjects with ACP1 *A/*A and *A/*B genotypes carrying ADA1 *2 allele show an increase of susceptibility to T1D. There is evidence of additive effect (p = 0.0002) but not of epistatic interaction. The association of T1D with ACP1–ADA1 joint genotype is stronger (OR = 2.494, 95% C.I. 1.509-4.122) as compared to that with PTPN22 (OR = 1.825 95% C.I. 1.951-2859). Conclusions It has been suggested that the *T variant of PTPN22 inhibits T cell receptor signaling leading to failure to delete autoreactive T cells during intrathymic selection resulting in increased susceptibility to autoimmune disorders. The joint genotype ACP1 *A/*A and *A/*B carrying the ADA1*2 allele shows a decreased activity of ACP1 resulting in a lowering of Zap70 activity that may decrease T cell receptor signaling with an additive effects to the inhibition due to the *T variant of PTPN22.
    No preview · Article · Oct 2014 · Diabetes Research and Clinical Practice
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    ABSTRACT: Aim: To investigate the role of protein tyrosin phosphatase 22 (PTPN22), maternal age at conception and sex on susceptibility and age at onset of type 1 diabetes (T1D) in Continental Italy and Sardinian populations. Methods: Three hundred seventy six subjects admitted consecutively to the hospital for T1D and 1032 healthy subjects as controls were studied in Continental Italy and 284 subjects admitted consecutively to the hospital for T1D and 5460 healthy newborns were studied in Sardinia. PTPN22 genotype was determined by DNA analysis. Maternal age at conception and age at onset of disease were obtained from clinical records. χ(2) test of independence, student t test for differences between means and odds ratio analysis were carried out by SPSS programs. Three way contingency table analysis was carried out according to Sokal and Rohlf. Results: The pattern of association between PTPN22 and T1D is similar in Continental Italy and Sardinia: the proportion of *T allele carriers is 13.6% in T1D vs 6.7% in controls in Continental Italy while in Sardinia is 7.3% in T1D vs 4.4% in controls. The association between T1D and maternal age at conception is much stronger in Sardinia than in Italy: the proportion of newborn from mother aging more than 32 years is 89.3% in T1D vs 32.7% in consecutive newborn in Sardinia (P < 10(-6)) while in Continental Italy is 32.2% in T1D vs 19.1% in consecutive newborns (P = 0.005). This points to an important role of ethnicity. A slight prevalence of T1D males on T1D females is observed both in Continental Italy and Sardinia. PTPN22 genotype does not exert significant effect on the age at onset neither in Continental Italy nor and Sardinia. Maternal age does not influence significantly age at onset in Italy (8.2 years in T1D infants from mothers aging 32 years or less vs 7.89 years in T1D infants from mothers aging more than 32 years: P = 0.824) while in Sardinia a border line effect is observed (5.75 years in T1D infants from mothers aging 32 years or less vs 7.54 years in T1D infants from mothers aging more than 32 years: P = 0.062). No effect of sex on age at onset is observed in Continental Italy while in Sardinia female show a lower age at onset of T1D as compared to males (8.07 years in males vs 6.3 years in females: P = 0.002). Conclusion: The present data confirm the importance of ethnicity on susceptibility and on the age at onset of T1D.
    Full-text · Article · Aug 2014
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    ABSTRACT: Background Previous studies suggest that adenylate kinase locus 1 (Ak1) has an important role in the control of blood glucose level and in the glycation of structural and functional proteins in type 2 diabetes and in the balanced development of feto-placental unit in healthy puerperae (HP). In this study, an attempt was made to investigate the relationship of Ak1 with maternal and neonatal parameters in puerperae with gestational diabetes (GDP) and with preexisting type 1 diabetes (T1DP). Methods This study was carried on 402 HP, 347 consecutive healthy newborns, 102 GDP and 111 T1DP with their newborn infants. Ak1 phenotype was determined by starch gel electrophoresis. Chi-square test of independence was carried out by SPSS program. The analysis of three way contingency table was carried out by a loglinear model. Significant level was 0.05. Results In T1DP, the frequency of Ak1*2 allele was higher than in GDP and in HP. Serum glucose level was higher in T1DP than in GDP with higher values in carriers of Ak1*2 allele. Neonatal hypoglycemia was more frequent in T1DP than in GDP with a positive association with Ak1*2 allele. The correlation between birth weight (BW) and placental weight (PW) was lower in infants from T1DP than HP. In healthy puerperae the correlation is higher in Ak1 2-1 than in Ak11 phenotype while in diabetic puerperae the pattern is reversed with lower values in Ak12-1 than in Ak11 phenotype. The lowest value of correlation is observed in infants from T1D mothers carrying the Ak1*2 allele. Conclusion The data confirmed the involvement of Ak1 in glucose metabolism and showed a disturbance of the balance between placental and fetal growth which was more marked in T1DP.
    Preview · Article · Jul 2014 · Journal of Reproduction and Infertility
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    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.
    Full-text · Article · May 2014 · Allergy, asthma & immunology research
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    Full-text · Article · Jan 2014
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    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.
    Full-text · Article · Dec 2012 · Medical science monitor: international medical journal of experimental and clinical research
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    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.
    No preview · Article · Nov 2012 · European journal of obstetrics, gynecology, and reproductive biology
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    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.
    No preview · Article · Mar 2012 · American Journal of Human Biology
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    ABSTRACT: Besides obesity it is likely that genetic factors play an important role in the development of diabetes in obese subjects. In this note we have searched for a possible role of genetic variability of Acid Phosphatase locus 1 (ACP1) in the development of type 2 diabetes in obese subjects. ACP1, a polymorphic enzyme composed by two isoforms F and S, has been found associated with obesity and diabetes and it is involved in glycide and lipide metabolism. We have studied 286 subjects admitted consecutively to the Hospital for Cardiovascular Diseases and 203 blood donors as controls. Written informed consent was obtained by all subjects to participate to the study that was approved by the Ethical Committee. ACP1 genotype was determined by DNA analysis. Statistical analyses were carried out using the SPSS package. In obese subjects susceptibility to diabetes depends on ACP1 genotype: the maximum O.R. has been observed in genotypes (*A/*A and *A/*C) that show the lowest F isoform activity (O.R. 12.500) while the minimum in the genotype (*B/*B) showing the highest F isoform (OR=3.183) pointing to an important role of ACP1 in the development of diabetes in obese subjects. If the association is confirmed pharmacologic modification of ACP1 activity could help the prevent and/or cure diabetes in obese subjects.
    No preview · Article · Mar 2012

  • No preview · Article · Nov 2011 · Acta Diabetologica
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    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.
    No preview · Article · Aug 2011 · Cardiology
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    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.
    No preview · Article · Aug 2011 · European journal of obstetrics, gynecology, and reproductive biology
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    ABSTRACT: AK 1 catalyzes the reversible reaction ATP+AMP  2ADP thus contributing to the regulation of relative concentration of these important nu-cleotides. Intracellular ATP is a storage of en-ergy for cellular processes, moreover extracel-lular ATP together with ADP, AMP and adeno-sine are critical signalling molecule for sending messages to nearby cells acting on P1 and P2 receptors. AK 1 shows a genetic polymorphism and recently our group has shown that the cor-relation between blood glucose and glycated haemoglobin in T2D is dependent on AK 1 phe-notype. In the present paper we have carried further studies on the relationship between AK 1 phenotypes and T2D. Possible interactions with ABO blood groups and ACP1 polymorphism have also been investigated. We have re-examined the data on 280 subjects with type 2 diabetes from the White population of Penne (Central Italy). 384 consecutive healthy new-borns from the same population have been also studied. A three way contingency table analysis was carried out according to Sokal and Rohlf and other statistical analyses by SPSS pro-grams. T2D patients with AK 1 2-1 phenotype have higher values of blood glucose level and glycated haemoglobin and an increased ten-dency to dyslipidemia and retinopathy. In addi-tion there is an interaction of AK 1 with ABO blood groups and with ACP 1 polymorphism. The different activity between AK 1 phenotypes could influence the relative concentration of ATP, ADP, AMP and adenosine with important effects on metabolic activity thus explaining the associa-tion of AK 1 with clinical manifestation of T2D.
    Preview · Article · Jan 2011 · Health
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    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.
    No preview · Article · Nov 2010 · European journal of obstetrics, gynecology, and reproductive biology
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    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.
    No preview · Article · Aug 2010 · The American Journal of the Medical Sciences
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    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.
    Full-text · Article · Sep 2009 · Occupational and environmental medicine