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Genetic polymorphism and natural fertility in women

Asian pacific Journal of Reproduction 2018年第1期7卷 19-21页

作者： fulvia gloria-bottini Neri A Pietropolli A Magrini A bottini E Department of Biomedicine and Prevention University of Rome Tor VergataSchool of MedicineRomeItaly

Objective: To investigate the cooperative interaction among five genetic systems (phosphoglucomutase locus 1, adenosine deaminase locus 1, acid phosphatase locus 1, adenylate kinase locus 1, and haptoglobin) concerning their effects on natural fertility in humans. Natural fertility has been evaluated by a model of age related differences between the distributions of types among pregnant women. Methods: A total of 137 nonsmoking consecutive puerperaes from the white population who had delivered their first born baby in the Maternity Department of S. Massimo Hospital of Penne were studied. The phenotypes of the five systems studied were determined by starch gel electrophoresis. Statistical analysis was performed using the statistical package for the social science. Results: There was a highly significant negative correlation between maternal age and the number of genetic factors showing a lower maternal age at the birth of the first child, which suggested a positive cooperative interaction among these factors concerning their effects on fertility. Conclusions:In the relationship of mother-fetus, besides nutritional factors, genetic factors involved in immunological interaction of the embryo with the mother are of paramount importance. Haptoglobin and adenosine deaminase locus 1 polymorphisms are involved in immune reactions and our data indicate that genetic variability within these systems gives a more important contribution to variation of human fertility as compared to acid phosphatase locus 1, phosphoglucomutase locus 1 and adenylate kinase locus 1 that are mainly involved in metabolic functions.

关键词： Women fertility Genetic polymorphism Phosphoglucomutase locus 1 Adenosine deaminase locus 1 Acid phosphatase locus 1 Adenylate kinase locus 1 Haptoglobin

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Memory and relaxation time of biological systems. an analysis of the effect of abortion legalization in italy

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Natural Science 2011年第8期3卷 694-701页

作者： Michele Caputo fulvia gloria-bottini 不详

When a population is affected by a new law there is a lag between the date of application of the law and the response of the population;moreover there is a relaxation time after which a steady state is reached. The time to maximum response and the relaxation time may be approximately estimated from the raw data but the mathematical modeling of the data allows a better estimate. The model, when tested on real data, may be used for future laws or, when appropriately adapted, for other biological systems also. In this note the memory based model is tested on the effects of the 1978 law which legalized the abortions in Italy finding the response and the relaxation time. It is shown that Italian population, after the abortion law, has required about 5 years to have the maximum effect and about 10 years to reach stability. The evolution of women life and the changes of the structure of society in Italy is also discussed.

关键词： Memory Abortion Mathematical Model Live-Born Infant Population Growth

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Adenylate kinase locus 1 genetic polymorphism and type 2 diabetes

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Health 2011年第2期3卷 77-81页

作者： fulvia gloria-bottini Elena Antonacci Anna Neri Andrea Magrini Egidio bottini 不详

AK1 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. AK1 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 AK1 phe-notype. In the present paper we have carried further studies on the relationship between AK1 phenotypes and T2D. Possible interactions with ABO blood groups and ACP1 polymorphism have also been investigated. We have re-ex-amined 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 AK12-1 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 AK1 with ABO blood groups and with ACP1 polymorphism. The different activity between AK1 phenotypes could influence the relative concentration of ATP, ADP, AMP and adenosine with important effects on metabolic activity thus explaining the associa-tion of AK1 with clinical manifestation of T2D.

关键词： AK T2D Glycemia ATP Glycated Haemoglobin

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Smoking, ACP<sub>1</sub>and Infertility in Subjects with Varicocele

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Health 2019年第10期11卷 1331-1337页

作者： Anna Neri Maria Banci Adalgisa Pietropolli fulvia gloria-bottini Andrea Magrini Department of Biomedicine and Prevention University of Tor Vergata Rome Italy Department of Cardiology Valmontone Hospital Valmontone Italy Department of System Medicine University of Tor Vergata Rome Italy

Several studies suggest that smoking may have detrimental effect on seminal parameters and that genetic polymorphisms may influence this effect. In the present paper we have examined the relationship between ACP1 genotypes and the association of smoking and infertility in a sample of men with varicocele. 126 subjects with varicocele were studied. ACP1 genotype was determined by DNA analysis and statistical analyses were performed by SPSS software. In general there is a protective action of low activity *A/*B genotype against infertility that is much more marked in smokers than in non-smokers. If confirmed in other clinical settings, determinations of ACP1 genotype could have practical importance to evaluate the risk of infertility in smokers with varicocele.

关键词： Smoking ACP1 Varicocele Infertility Genetic Polymorphism

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Effect of genetic factors on the association between coronary artery disease and PTPN22 polymorphism

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World Journal of Cardiology 2014年第6期6卷 376-380页

作者： fulvia gloria-bottini Patrizia Saccucci Maria Banci Paolo Nardi Mattia Scognamiglio Antonio Pellegrino Egidio bottini Luigi Chiariello Department of Biomedicine and Prevention School of MedicineUniversity of Rome Tor Vergata00133 RomeItaly Department of Cardiology Valmontone Hospital Department of Cardiac Surgery University of Rome Tor VergataSchool of Medicine

PTPN22 has been previously found associated with coronary artery disease(CAD). In the present note we have studied the effect of p53 codon 72,acid phosphatse locus 1(ACP1) and adenosine deaminase(ADA) genetic polymorphism on the strength of association between PTPN22 and CAD. We have studied 133 non diabetic subjects with CAD,122 non diabetic cardiovascular patients without CAD and 269 healthy blood donors. Informed written consent was obtained from all subjects and the study was approved by the Ethical Committee. A high significant association between PTPN22 and CAD is observed in carriers of *A allele of ACP1 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to controls and to non diabetic subjects with cardiovascular diseasewithout CAD. A similar pattern is observed in carriers of *Pro allele of p53 codon 72 with a higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other groups. A highly significant association between PTPN22 and CAD is observed in carriers of ADA2 *2 allele with higher proportion of *T allele carriers in non diabetic subjects with CAD as compared to other group. There is a high significant correlation between the number of factors that contributes to increase the strength of association between PTPN22 *T and CAD and the proportion of *T carriers in CAD. ACP1,p53 codon 72 and ADA are involved in immune reaction and give an important additive contribution to the strength of association between PTPN22 and CAD. This study stresses the importance of the simultaneous analysis of multiple genes functionally related to a specific disease: the approach may give important hints to understand multifactorial disorders.

关键词： Coronary artery disease PTPN22 Acid phosphatse locus 1 Adenosine deaminase 2 p53 codon 72

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Infertility in Men with Varicocele: The Role of Age, Smoking and Alcohol Intake

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Health 2020年第3期12卷 231-239页

作者： Luca Coppeta Anna Neri Maria Nicotra Vincenzo Gentile Claudio Spina Adalgisa Pietropolli fulvia gloria-bottini Polyclinic Foundation University of Tor Vergata Rome Italy Department of Biomedicine and Prevention School of Medicine University Tor Vergata Rome Italy Department of Gynaecologic Obstetric and Urologic Sciences University of Rome La Sapienza Rome Italy Department of System Medicine University of Tor Vergata Rome Italy Department of Surgery University of Tor Vergata Rome Italy

Previous studies have focused on the damaging effects of smoking and alcohol on sperm parameters;however, some of these studies have failed to find a significant correlation between these variables. Herein we have investigated the relationship of infertility with smoking and/or alcohol consumption in one hundred and thirty-six men with varicocele, admitted consecutively to the Outpatients Department of Infertility at the University of Rome La Sapienza (Italy) between 2005-2007. The sample size was small because we have selected couples with both marital infertility lasting for more than two years and the male partner with varicocele. Statistical analyses were carried out using the software of Statistical Package for the Social Sciences (SPSS). We showed a highly significant association of infertility with alcohol consumption. As the mean value was 32 years, comparing men of age less than or equal to 32 years and men of age over 32 years, this association is present only in men of age less than or equal to 32 years. A discriminant analysis with infertility as dependent variable and age, alcohol consumption and smoking habit as independent variables has shown a significant discrimination only in men of age less than or equal to 32 years. The most important contribution to this discrimination was given by alcohol followed by age while contribution from smoking was small. Our analyses suggest that alcohol consumption contributes to infertility in men of age less than or equal to 32 years whereas smoking does not.

关键词： Age Alcohol Consumption Infertility Smoking Varicocele

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Study of factors influencing susceptibility and age at onset of type 1 diabetes: A review of data from Continental Italy and Sardinia

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World Journal of Diabetes 2014年第4期5卷 557-561页

作者： fulvia gloria-bottini Patrizia Saccucci Gian Franco Meloni Maria Luisa Manca-Bitti Luca Coppeta Anna Neri Andrea Magrini bottini Egidio Department of Biomedi-cine and Prevention School of Medicine University of Rome Tor Vergata 00133 Rome Italy Department of Pediatrics University of Sassari Medical School 07010 Sassari Italy Pediatric Diabetology and Endocrinol-ogy Unit Policlinico Tor Vergata University Hospital 00144 Rome Italy

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 ***:Three hundred seventy six subjects admitted consecutively to the hospital for T1D and 1032healthy 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 ***22 genotype was determined by DNA *** age at conception and age at onset of disease were obtained from clinical records.χ2 test of independence,student t test for differences between means and odds ratio analysis were carried out by SPSS *** way contingency table analysis was carried out according to Sokal and ***:The pattern of association between PTPN22and T1D is similar in Continental Italy and Sardinia:the proportion of*T allele carriers is 13.6%in T1D vs6.7%in controls in Continental Italy while in Sardinia is 7.3%in T1D vs 4.4%in *** 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 is89.3%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 ***22 genotype does not exert significant effect on the age at onset neither in Continental Italy nor and *** age does not influence significantly age at onset in Italy(8.2 years in T1D infants from mothers aging32 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 vs7.54 years in T1D infants from mo

关键词： Type 1 diabetes Continental Italy Sardinia Protein tyrosin phosphatase 22 Maternal age Age of onset Sex

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The association of adenosine deaminase with coronary artery disease: Effect of gender and diabetes

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Health 2013年第2期5卷 166-169页

作者： fulvia gloria-bottini Krzysztof Safranow Maria Banci Agnieszka Binczak-Kuleta Patrizia Saccucci Andrzej Ciechanowicz Andrea Magrini Zdzislawa Kornacewicz-Jach Egidio bottini Dariusz Chlubek Department of Biochemistry and Medical Chemistry Pomeranian Medical University Szczecin Poland Department of Biomedicine and Prevention School of Medicine University of Rome Tor Vergata Rome Italy Department of Cardiology Pomeranian Medical University Szczecin Poland Department of Cardiology Valmontone Hospital Valmontone Italy Department of Laboratory Diagnostics and Molecular Medicine Pomeranian Medical University Szczecin Poland

An association between ADA1 and Coronary Artery Disease (CAD) has been observed in Polish and in Italian populations but in Italian population the association was present in males only. In order to enlighten these differences we have carried out a collaborative study in the two populations. In Italy 215 subjects admitted to the Hospital for CAD, 275 subjects with Type 2 Diabetes (T2D) without CAD and 398 healthy new-borns were studied. In Poland 173 subjects with CAD and 200 healthy newborns were studied. Written informed consent was obtained from all subjects or from their mothers to participate to the study that was approved by the I.R.B. ADA1 polymorphism was determined by DNA analysis. Three way contingency table analysis was performed by a log linear model. The association between CAD and ADA1 is present in non diabetic male subjects only: OR = 0.195, p = 0.007 in the Italian population and OR = 0.163, p = 0.004 in the Polish population. The data suggest a significant role of immunological mechanisms in the pathogenesis of CAD without diabetes. Gender differences in immune diseases could explain the lack of association in females.

关键词： ADA CAD Gender Diabetes

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Cr(Ⅵ) reduction capability of humic acid extracted from the organic component of municipal solid waste

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Journal of Environmental Sciences 2013年第3期25卷 487-494页

作者： Barbara Scaglia fulvia Tambone Fabrizio Adani Gruppo Ricicla Dipartimento di Science Agrarie e Ambientali:ProduzioneTerritorioAgroenergiaUniversità degli Studi di Milano

The capacity of humic acid extracted from organic waste （HAw） to reduce Cr（Ⅵ） was tested at pH 2.5,4 and 6 and compared with coal-derived humic acid （HAc）.HAw was more effective than HAc in reducing Cr（Ⅵ）.The kinetics of Cr（Ⅵ） reductions depended strongly on *** calculation of the apparent rate coefficients indicated that HAw was more efficient at reducing Cr（Ⅵ） than HAc,but was also more efficient than HAs from soil and *** reduction capability of HAs depends on the type of functional groups （i.e.,thiols and phenols） present,rather than the free *** was more efficient at reducing Cr（Ⅵ） than HAc because more reactive phenols were present,i.e.,methoxy-and methyl-phenols.

关键词： hexavalent chromium humic acid reduction kinetic organic fraction municipal solid waste phenol molecules

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意大利语分级阅读

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作者： (意)Marco Dominici (意)fulvia Oddo

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