Significant relationship of combined ACP/PTPN22 genotype variants with the growth of uterine leiomyomas.

Objective: To analyze the interaction between ACP and PTPN22 concerning their effects on the growth of the tumor. In previous paper we have shown (i) that ACP*B/*B genotype of ACP is negatively associated with the growth of leiomyomas and (ii) that there is a negative association of *C/*C genotype of PTPN22 with tumor growth.

Materials And Methods: Two hundred and three White women from the population of Rome with symptomatic leiomyomas were recruited in the University of Rome Tor Vergata.

Correlation between birth weight and placental weight in healthy and diabetic puerperae.

Objective: The birth weight/placental weight ratio has an important predictive value for perinatal mortality and morbidity and for cardiovascular diseases in adult life. In this study, we compared the birth weight/placental weight (BW/PW) ratio and the correlation between the two parameters in diabetic women with that observed in healthy women.

Materials And Methods: A total of 347 consecutive newborn infants from healthy puerperae, 164 newborns from puerperae with gestational diabetes, 148 newborns from puerperae with preexisting type 1 diabetes, and 40 newborns from puerperae with preexisting type 2 diabetes have been studied from the White population of Rome.

Allergy and Uterine Leiomyomas: Cooperative Interaction with ACP1 Genetic Polymorphism.

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.

Genetic variability within Adenosine Deaminase gene and uterine leiomyomas.

Objective: The recent observation of an association of colon cancer with two polymorphic sites within the Adenosine Deaminase (ADA) gene suggests an involvement of these polymorphisms in the development of solid tumors. This prompted us to search for a similar association in uterine leiomyomas.

Study Design: We have studied 181 women admitted to the hospital for leiomyomas requiring surgical intervention and 248 women of comparable age without clinical signs of leiomyomas.

The effect of ACP1, ADA6 and PTPN22 genetic polymorphisms on the association between p53 codon 72 polymorphism and endometriosis.

Purpose: 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.

Methods: 130 women hospitalized for endometriosis and a sample of 250 women without endometriosis have been studied.

PTPN22 and uterine leiomyomas.

Objective: It has been suggested that the development of uterine leiomyomas is positively influenced by an immune system in a chronically inflammatory state and that a lower level of regulating T cell (Treg cells) would play a central role. Since it has been suggested that the W620 variant of protein tyrosine phosphatase non-receptor type 22 (PTPN22) decreases the number of Treg cells, we investigated a possible relationship between PTPN22 polymorphism and uterine leiomyomas.

Study Design: We studied 203 white women from Rome who were hospitalized for symptomatic leiomyomas requiring surgical intervention.

A study of adenylate kinase locus 1 (ak 1 ) genetic polymorphism in diabetic pregnancy.

Background: Previous studies suggest that adenylate kinase locus 1 (Ak 1 ) 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 Ak 1 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.

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

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.

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

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.

Further observations on associations between the ADA gene and past malaria morbidity in Sardinia.

Objectives: Adenosine Deaminase (ADA) contributes to the regulation of adenosine concentration and in turn to T cell activation. Genetic variability of ADA activity may have, therefore, an important role in resistance to malaria. Indeed, previous studies in Sardinia have shown a lower frequency of ADA1 *2 allele (associated with low ADA activity) in areas, where malaria was heavily endemic compared to areas where malaria was not endemic.

Coronary artery disease. A study of three polymorphic sites of adenosine deaminase gene.

Objectives: The role of adenosine as a cardioprotective agent is well known and recent experimental studies suggest that impairment of adenosine-related signal transduction contributes to the pathophysiology of chronic heart failure. The recent observation of an association between ADA, genetic polymorphism and coronary artery disease (CAD) prompted us to study the possible relevance of three intragenic polymorphic sites of the ADA gene (ADA1, ADA2 and ADA6).

Methods And Results: 136 non-diabetic patients with coronary artery disease and 246 healthy blood donors from the white Italian population of Central Italy and 129 non-diabetic patients with CAD and 204 newborns from the white Polish population were studied.

Cytosolic low molecular weight protein-tyrosine phosphatase activity and clinical manifestations of diabetes.

Background: Biochemical, epidemiological and experimental evidence suggests that cytosolic low molecular weight protein-tyrosine phosphatase (cLMWPTP) genetic variability may have a role in the clinical manifestations of diabetes mellitus. In this article, the authors review data from their laboratory supporting the hypothesis that high cLMWPTP activity favors severe manifestations of diabetes.

Methods: In 829 type 2 diabetic patients, the authors have studied the association between clinical parameters and cLMWPTP activity.

ACP1 Genetic Polymorphism and Coronary Artery Disease: Evidence of Effects on Clinical Parameters of Cardiac Function.

Background: Kinases and phosphatases have an important role in the susceptibility and clinical variability of cardiac diseases. We have recently reported an association between a phosphoprotein phosphatase controlled by Acid Phosphatase locus 1 (ACP1), and Coronary artery disease (CAD) suggesting an effect on the susceptibility to this disease. In the present note we have investigated a possible role of ACP1 in the variability of clinical parameters of cardiac function.

p53 codon 72 polymorphism and coronary artery disease: evidence of interaction with ACP₁.

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 (ACPACP₁) is a polymorphic gene that controls the synthesis of an enzyme involved in important metabolic functions. Since ACPACP₁ 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.

Acid phosphatase locus 1 genetic polymorphism and cancer grading.

Background: Currently, there is a surge of interest on the possible relationship between cancer and acid phosphatase locus 1 (ACP(1)), an enzyme involved in the modulation of growth factors and cellular metabolism. As far as the authors know, the possible relationship between ACP(1) genetic variability and cancer grading has not yet been considered. In this article, the authors have studied the relationship between ACP(1) genotype and grade in colon and endometrium cancers.

Effect of ADA1 mother-fetus and wife-husband phenotypic differences on the ratio birth weight/placental weight in fertile women and on reproductive success in couples with RSA.

Objectives: To study the effect Adenosine Deaminase locus 1 (ADA(1)) mother-fetus and wife-husband phenotypic differences on the ratio Birth Weight/Placental Weight (BW/PW) in fertile women and on reproductive success in couples with repeated spontaneous abortion (RSA).

Methods: 209 couples with primary RSA and a consecutive series of 379 healthy puerperae with their newborn infants from the White Caucasian population of central Italy were studied. In primary RSA women reproductive success was indicated by the presence of at least one live-born infant within 5 years of follow up.

Adenylate kinase genetic polymorphism and spontaneous abortion.

Objective: 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.

Methods: 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.

Genotypes of p53 codon 72 correlate with age at onset of type 1 diabetes in a sex-specific manner.

In type 1 diabetes mellitus (T1D) p53 pathways are up-regulated and there is an increased susceptibility to apoptosis. The hypothesis is that p53 codon 72 polymorphism could be associated with T1D. A total of 286 children with T1D and a control sample of 730 subjects were studied.

p53 codon 72 polymorphism and coronary artery disease: evidence of association with left ventricular ejection fraction.

Introduction: Recently, there has been a surge of interest on the possible relationship between p53 polymorphism and coronary atherosclerosis. The authors have investigated the possible association of p53 codon 72 polymorphism with left ventricular ejection fraction (LVEF) in subjects with and without coronary artery disease (CAD).

Methods: The authors have studied 198 subjects admitted consecutively to Valmontone Hospital for CAD and 129 subjects admitted for cardiovascular diseases without CAD.

Adenylate kinase locus 1 polymorphism and feto-placental development.

Objective: Recently our group has found that the correlation between birth weight and placental weight - an index of a balanced feto-placental unit development - is influenced by genetic factors. Since adenylate kinase locus 1 (AK₁) is a polymorphic enzyme that plays an important role in the synthesis of nucleotides required for many metabolic functions, we have investigated the possible role of its genetic variability in the correlation between birth weight and placental weight.

Study Design: 342 consecutive healthy newborn infants from the population of Rome (Italy) and 286 puerperae from another population from Central Italy were studied.

ABH secretor status and reproductive success in couples with primary recurrent spontaneous abortion.

Aim: FUT2 is an autosomal gene that controls the secretion of the ABH blood group antigens in organic fluids. The secretor gene plays an important role during intrauterine life. The aim of this study is to investigate a possible association between the ABH system and reproductive success in couples with primary repeated spontaneous abortion (RSA).

Is there a role of ACP1-ADA1 genetic complex in immune reaction? Association with T1D and with past malarial morbidity.

In this article, we confirm the positive association of acid phosphatase locus 1 (ACP1)*A/adenosine deaminase locus 1 (ADA1)*2 gametic type with type 1 diabetes (T1D) previously reported and show a negative correlation between the frequency of this gametic type with past malarial morbidity in Sardinia. One hundred seven adult women with T1D and 385 healthy adult women from the Caucasian population of Central Italy have been studied. Data on 1384 children from the central area of Sardinia have also been reexamined.

The interaction of ACP1, ADA1, diabetes and gender in coronary artery disease.

Introduction: 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.

Method: 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 effect of genetic variability on the correlation between blood glucose and glycated hemoglobin levels.

The disturbing results of recent clinical trials aimed to control cardiovascular risk of diabetes by aggressive control of blood glucose prompted us to analyze the effect of genetic variability of 2 polymorphic enzymes abundant in red blood cells on the correlation between blood glucose and glycated hemoglobin (Hb). Two hundred eighty subjects with type 2 diabetes mellitus were studied. Adenylate kinase locus 1 (AK₁) and acid phosphatase locus 1 were determined.