E Bottini
Biographic Data
| ID | 4089691 |
|---|---|
| NAME | E Bottini |
| GIVEN NAMES | E |
| FAMILY NAME | Bottini |
| SIGNATURE | BOTTINI E |
| AFFILIATIONS | University of Rome Tor Vergata |
| ORCID | 0000-0003-1723-9723 |
| VERIFIED | Yes |
| TOTAL WORKS | 22 |
| TOTAL CITATIONS | 34 |
| WORKS AS AUTHOR | 22 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 1975 |
| LATEST PUBLICATION YEAR | 2014 |
| H-INDEX | 4 |
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. We have …
Adenylate kinase genetic polymorphism and spontaneous abortion
Effect of ADA 1 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 studie…
Low Birth Weight and Allergy
The well-known relationship between low birth weight and allergies prompted us to investigate a possible pleiotropic effect of ACP1 on these conditions. ACP1 is a polymorphic enzyme that affects signal transduction of insulin and other growth factors, T-cell receptor signaling, and the regulation of flavoenzyme activity. Our aim was to compare the relationship between ACP1 and allergy with the relationship between ACP1 and birth weight. We studie…
Effect of ACP1*C on Early Life Viability
Associations with past malarial morbidity, season of conception, and common diseases such as obesity, type 2 diabetes, and allergy argue against neutrality of the ACP1 genetic polymorphism. Comparison of ACP1 distribution in mothers and their newborns and analysis of the joint wife-husband ACP1 phenotype distribution in couples with repeated spontaneous abortion suggest a negative effect of the ACP1*C allele on early life viability. Analysis of t…
Adaptation to past malarial endemia and susceptibility to common diseases in modern populations
We carried out a study of adenosine deaminase (ADA) and MN blood group genetic polymorphisms in relation to past malarial morbidity in Sardinia and in relation to susceptibility to allergic asthma (a Th2 disorder) and Crohn's disease (a Th1 disorder) in the population of Rome. Eight hundred and eight schoolchildren, aged 7–14 years from 14 Sardinian villages located in the central area of the island, were considered. One hundred and twenty‐two ch…
Is Delayed Childbearing Changing Gene Frequencies in Western Populations
Experimental data and clinical observations suggest that delaying childbearing influences the biology of the mother-fetus relationship, with a negative effect on fetal development and predisposition to severe diseases such as type 1 diabetes. We reason that advanced maternal age may influence intrauterine selection, favoring genotypes that are more adapted to the intrauterine environment of less young women. In the present study we have investiga…
Genetics of signal transduction and the effect of maternal smoking on sex ratio of offspring
We investigated the possible effects of ACP1 on the relationship between maternal smoking and sex ratio of offspring. ACP1 is a highly polymorphic enzyme involved in signal transduction of growth factors, glucose metabolism, flavoenzyme activity, and T‐cell activation. A sample of 357 consecutive newborns from the population of Rome and a sample of 362 consecutive newborns from the population of Penne were studied. In both populations, among fema…
Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase
We investigated the possible effects of placental alkaline phosphatase (PLAP) genotype on the deleterious action of maternal smoke on intrauterine survival and birthweight. PLAP is a highly polymorphic enzyme with several alleles associated with different enzymatic activities. PLAP is produced by the embryo and is found in maternal blood, where it is responsible for the rise of serum alkaline phosphatase during pregnancy. Two hundred and fourteen…
Phosphoglucomutase genetic polymorphism of newborns
An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA a…
Phosphoglucomutase genetic polymorphism of newborns
An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA a…
Birth weight and parental PGM1 alleles
A deviation of the maternal–neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy–Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother–newborn PGM1 genotype and intraute…
ACP1 and human adaptability
Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: flavin‐mononucleotide phosphatase and tyrosine phosphatase activity. An association between ACP1 polymorphism and past malarial morbidity in Sardi…
Birth weight and parental PGM1 alleles
A deviation of the maternal–neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy–Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother–newborn PGM1 genotype and intraute…
Maternal-Fetal Interaction in the ABO System
We investigated the possible differential effects of A and B blood group materno-fetal incompatibility on human fertility through a comparative analysis of couples with recurrent spontaneous abortion (RSA) and healthy mothers. ABO phenotype was determined in 5180 healthy mothers and their newborn babies from the population of Sassari (Sardinia) and in 1359 healthy puerperae (women who have just given birth) from the population of Rome. Mother-new…
Adenosine deaminase-acid phosphatase association and the environment
Three hundred fifty newborns from Rome and 351 from Penne were studied in continental Italy. Medium high altitude above sea level and cold winters characterize the area of Penne, while low altitude and very mild winters characterize the area of Rome. An effect of environmental conditions on the association between adenosine deaminase (ADA) and acid phosphatase (ACP1), previously shown in Sardinia, has been confirmed in continental Italy. When com…
Association between cytosolic low molecular weight phosphotyrosine-phosphatase and malaria?a possible mechanism
Cytosolic low molecular weight phosphotyrosine-phosphatase shows dephosphorylating activity of the band 3 protein. Increased phosphorylation of this protein increases membrane rigidity and resistance to invasion of red blood cells by malarial parasites. This observation may explain the negative association previously reported by our group between the high activity *C allele of cytosolic low molecular weight phosphotyrosine-phosphatase and past ma…
Phosphoglucomutase genetic polymorphism and human fertility
We studied the phosphoglucomutase phenotype in relation to fertility parameters in a consecutive series of 204 women who had delivered a normal live-born child in Rome. A highly significant association was found between age of the women and phosphoglucomutase phenotype, suggesting a reduced rate of reproduction among women of phosphoglucomutase Type 1. Previous spontaneous abortion appears related to both age and phosphoglucomutase enzymatic type…
A study of nine polymorphic systems in the population of the Po Delta
The present work reports a study of nine genetic polymorphic systems in the area of the Po Delta where malaria was endemic since the XIV century. Our data confirm some characteristics of this population already reported by other authors such as the high prevalence of thalassemia, the low prevalence of the rh (d) gene and the presence of G‐6‐PD deficiency. Among the other systems studied, i.e., AP, PGM 1 ADA and AK, only AP frequencies of Po Delta…
Abortion
Genetic differentiation among Sardinian villages
The present study reports an analysis of genetic differentiation among 14 Sardinian villages located mainly in the center of the island. Chisquare tests show significant genetic heterogeneity among villages, and analyses by F‐ and R‐ statistics indicate an essentially random pattern of differentiation for all alleles. Using the kinship methods of Morton, a matrix, R, with elements r ij describing the correlations between the gene frequencies of v…
Red cell acid phosphatase
The frequency of P C allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and Gd Med prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying P A allele for acid phosphatase…
Genetic differentiation among Sardinian villages
The present study reports an analysis of genetic differentiation among 14 Sardinian villages located mainly in the center of the island. Chisquare tests show significant genetic heterogeneity among villages, and analyses by F‐ and R‐ statistics indicate an essentially random pattern of differentiation for all alleles. Using the kinship methods of Morton, a matrix, R, with elements r ij describing the correlations between the gene frequencies of v…
Red cell acid phosphatase
The frequency of P C allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and Gd Med prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying P A allele for acid phosphatase…
Maternal-Fetal Interaction in the ABO System
We investigated the possible differential effects of A and B blood group materno-fetal incompatibility on human fertility through a comparative analysis of couples with recurrent spontaneous abortion (RSA) and healthy mothers. ABO phenotype was determined in 5180 healthy mothers and their newborn babies from the population of Sassari (Sardinia) and in 1359 healthy puerperae (women who have just given birth) from the population of Rome. Mother-new…
Abortion
Is Delayed Childbearing Changing Gene Frequencies in Western Populations
Experimental data and clinical observations suggest that delaying childbearing influences the biology of the mother-fetus relationship, with a negative effect on fetal development and predisposition to severe diseases such as type 1 diabetes. We reason that advanced maternal age may influence intrauterine selection, favoring genotypes that are more adapted to the intrauterine environment of less young women. In the present study we have investiga…
Abortion
Genetic differentiation among Sardinian villages
The present study reports an analysis of genetic differentiation among 14 Sardinian villages located mainly in the center of the island. Chisquare tests show significant genetic heterogeneity among villages, and analyses by F‐ and R‐ statistics indicate an essentially random pattern of differentiation for all alleles. Using the kinship methods of Morton, a matrix, R, with elements r ij describing the correlations between the gene frequencies of v…
Red cell acid phosphatase
The frequency of P C allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and Gd Med prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying P A allele for acid phosphatase…
A study of nine polymorphic systems in the population of the Po Delta
The present work reports a study of nine genetic polymorphic systems in the area of the Po Delta where malaria was endemic since the XIV century. Our data confirm some characteristics of this population already reported by other authors such as the high prevalence of thalassemia, the low prevalence of the rh (d) gene and the presence of G‐6‐PD deficiency. Among the other systems studied, i.e., AP, PGM 1 ADA and AK, only AP frequencies of Po Delta…
Phosphoglucomutase genetic polymorphism and human fertility
We studied the phosphoglucomutase phenotype in relation to fertility parameters in a consecutive series of 204 women who had delivered a normal live-born child in Rome. A highly significant association was found between age of the women and phosphoglucomutase phenotype, suggesting a reduced rate of reproduction among women of phosphoglucomutase Type 1. Previous spontaneous abortion appears related to both age and phosphoglucomutase enzymatic type…
Association between cytosolic low molecular weight phosphotyrosine-phosphatase and malaria?a possible mechanism
Cytosolic low molecular weight phosphotyrosine-phosphatase shows dephosphorylating activity of the band 3 protein. Increased phosphorylation of this protein increases membrane rigidity and resistance to invasion of red blood cells by malarial parasites. This observation may explain the negative association previously reported by our group between the high activity *C allele of cytosolic low molecular weight phosphotyrosine-phosphatase and past ma…
Adenosine deaminase-acid phosphatase association and the environment
Three hundred fifty newborns from Rome and 351 from Penne were studied in continental Italy. Medium high altitude above sea level and cold winters characterize the area of Penne, while low altitude and very mild winters characterize the area of Rome. An effect of environmental conditions on the association between adenosine deaminase (ADA) and acid phosphatase (ACP1), previously shown in Sardinia, has been confirmed in continental Italy. When com…
Phosphoglucomutase genetic polymorphism of newborns
An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA a…
Phosphoglucomutase genetic polymorphism of newborns
An association of the phosphoglucomutase locus 1 (PGM1) genetic polymorphism with repeated spontaneous abortion (RSA), with intrauterine development in both normal and diabetic pregnancies, and with fertility has been reported in previous studies. In view of the evolutionary interest and of a possible clinical relevance of PGM1 selection during intrauterine life, this study considers healthy puerperae, consecutive newborns, and couples with RSA a…
Birth weight and parental PGM1 alleles
A deviation of the maternal–neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy–Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother–newborn PGM1 genotype and intraute…
ACP1 and human adaptability
Acid Phosphatase locus 1 (ACP1) is a polymorphic enzyme controlled by a locus on chromosome 2 with three common codominant alleles: *A, *B, and *C. ACP1 shows two major isoforms, F and S. The ratio of their concentration differs markedly among genotypes. Two functions have been proposed for the enzyme: flavin‐mononucleotide phosphatase and tyrosine phosphatase activity. An association between ACP1 polymorphism and past malarial morbidity in Sardi…
Birth weight and parental PGM1 alleles
A deviation of the maternal–neonatal joint phosphoglucomutase locus 1 (PGM1) distribution from Hardy–Weinberg expectation has been reported. It was suggested that selection on PGM1 during intrauterine life might account for these deviations and that maternal and paternal PGM1 alleles might have different associations with intrauterine survival. This study considered possible associations between the joint mother–newborn PGM1 genotype and intraute…
Maternal-Fetal Interaction in the ABO System
We investigated the possible differential effects of A and B blood group materno-fetal incompatibility on human fertility through a comparative analysis of couples with recurrent spontaneous abortion (RSA) and healthy mothers. ABO phenotype was determined in 5180 healthy mothers and their newborn babies from the population of Sassari (Sardinia) and in 1359 healthy puerperae (women who have just given birth) from the population of Rome. Mother-new…
Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphatase
We investigated the possible effects of placental alkaline phosphatase (PLAP) genotype on the deleterious action of maternal smoke on intrauterine survival and birthweight. PLAP is a highly polymorphic enzyme with several alleles associated with different enzymatic activities. PLAP is produced by the embryo and is found in maternal blood, where it is responsible for the rise of serum alkaline phosphatase during pregnancy. Two hundred and fourteen…
Genetics of signal transduction and the effect of maternal smoking on sex ratio of offspring
We investigated the possible effects of ACP1 on the relationship between maternal smoking and sex ratio of offspring. ACP1 is a highly polymorphic enzyme involved in signal transduction of growth factors, glucose metabolism, flavoenzyme activity, and T‐cell activation. A sample of 357 consecutive newborns from the population of Rome and a sample of 362 consecutive newborns from the population of Penne were studied. In both populations, among fema…
Adaptation to past malarial endemia and susceptibility to common diseases in modern populations
We carried out a study of adenosine deaminase (ADA) and MN blood group genetic polymorphisms in relation to past malarial morbidity in Sardinia and in relation to susceptibility to allergic asthma (a Th2 disorder) and Crohn's disease (a Th1 disorder) in the population of Rome. Eight hundred and eight schoolchildren, aged 7–14 years from 14 Sardinian villages located in the central area of the island, were considered. One hundred and twenty‐two ch…
Is Delayed Childbearing Changing Gene Frequencies in Western Populations
Experimental data and clinical observations suggest that delaying childbearing influences the biology of the mother-fetus relationship, with a negative effect on fetal development and predisposition to severe diseases such as type 1 diabetes. We reason that advanced maternal age may influence intrauterine selection, favoring genotypes that are more adapted to the intrauterine environment of less young women. In the present study we have investiga…
Effect of ACP1*C on Early Life Viability
Associations with past malarial morbidity, season of conception, and common diseases such as obesity, type 2 diabetes, and allergy argue against neutrality of the ACP1 genetic polymorphism. Comparison of ACP1 distribution in mothers and their newborns and analysis of the joint wife-husband ACP1 phenotype distribution in couples with repeated spontaneous abortion suggest a negative effect of the ACP1*C allele on early life viability. Analysis of t…
Low Birth Weight and Allergy
The well-known relationship between low birth weight and allergies prompted us to investigate a possible pleiotropic effect of ACP1 on these conditions. ACP1 is a polymorphic enzyme that affects signal transduction of insulin and other growth factors, T-cell receptor signaling, and the regulation of flavoenzyme activity. Our aim was to compare the relationship between ACP1 and allergy with the relationship between ACP1 and birth weight. We studie…
Adenylate kinase genetic polymorphism and spontaneous abortion
Effect of ADA 1 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 studie…
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. We have …
Biology (21 works) · Genetics (16 works) · Gene (14 works) · Allele (13 works) · Genetics (11 works) · Genotype (11 works) · Enzyme (9 works) · Medicine (9 works) · Population (9 works) · Pregnancy (9 works)