Lack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy.

BACKGROUND: Asthma is a complex multifactorial disease that is not yet fully understood. Oxidative stress due to an imbalance between the oxidative forces and the antioxidant defense systems has been implicated in asthma pathogenesis. However, much debate still surrounds the key genetic factors involved in the development of this disease. Candidate genes include the glutathione S-transferases (GSTs). In particular, mu, pi, and theta classes of GSTs play an important role in regulating inflammatory responses. However, few and contradictory data are available on the association between asthma development and GST gene polymorphisms (GSTM1, GSTP1, and GST1). OBJECTIVE: To investigate whether GSTM1, GSTT1, and GSTP1 polymorphisms are associated with asthma development. METHODS: We recruited 200 unrelated healthy individuals and 199 asthmatic patients from Rome in Central Italy. Genotyping of GSTMI and GSTT1 genes was performed by a multiplex polymerase chain reaction (PCR) while the GSTP1 polymorphism (rs1695) was determined using PCR-restriction fragment length polymorphism analysis. RESULTS: Our results suggest that the GST polymorphisms analyzed are not associated with asthma, confirming the uncertain role of GST genes in the development of asthma. CONCLUSIONS: Oxidative stress is certainly involved in the development of asthma, and GSTs may therefore influence asthma risk, although, as our results show, their role in pathogenesis remains to be elucidated. Future studies should focus on the interactions of GST genes with the environment and other antioxidant genes to shed light on the role of GSTs in asthma.

Glutathione S-transferase gene polymorphisms and air pollution as interactive risk factors for asthma in a multicentre Italian field study: A preliminary study.

BACKGROUND: Asthma is one of the most common chronic diseases. Several studies have indicated that oxidative stress impairs pulmonary function. Glutathione S-transferases (GSTs) are believed to be critical in the protection of cells from reactive oxygen species. AIM: In this case-control study we analysed the possible association between polymorphism in several cytosolic GST genes, air pollution and asthma development. METHODS: Genotyping of GSTM1 and GSTT1 genes was carried out by a multiplex PCR; GSTA1, GSTO1, GSTO2, GSTP1 polymorphisms were determined using the PCR-RFLP method. Data on atmospheric pollutants were collected by the regional air-quality monitoring network. RESULTS: Among all the polymorphisms studied, the frequencies of GSTA1, GSTM1, GSTO2 and GSTT1 genotypes found in the group of asthmatic patients seem to differ from the frequencies of those found in the control group. Air pollutants were analysed and the air quality parameters considered proved to be significantly different, and therefore suitable for this study. CONCLUSION: The final result of this research should hopefully lead to a better understanding of gene-environment interactions, so allowing earlier prediction and diagnosis of asthma disease and providing an efficient means of prevention.

Red cell enzyme polymorphisms in Friuli Venezia Giulia (northeast Italy).

Seven erythrocyte enzyme polymorphisms (ACP1, ADA, ESD, GLO1, PGD, PGM1 and PGM2) were investigated in a sample of 673 unrelated adult individuals from Friuli Venezia Giulia (or Friuli) and Istria. The gene frequencies found in the four provincial samples of Friuli and Istria fall within the range previously reported for Italy, showing a genetic homogeneity among the considered samples. However, comparisons with data from ex-Yugoslavian samples--using the chi 2 test--showed rather marked differences, probably due to a real different genetic structure of the compared samples. A significant association was found assuming a linear relation between the ADA*2 allele frequencies and longitude (r = +0.5503) and between the PGD*C frequencies and latitude (r = -0.6483), suggesting the existence of a clinal trend for these allele frequencies in Italy. These results seem to disagree with foregoing conclusions stated by other authors, probably because these studies were carried out in an area either rather narrow from the geographical point of view or affected by small size migration movements.

Plasma protein polymorphisms (HP; TF and GC subtypes) in Friuli Venezia Giulia (northeast Italy).

Plasma protein genetic polymorphisms (HP; TF and GC subtypes) were studied in two different areas (Friuli Venezia Giulia and Istria). The results are discussed and compared with those reported by literature on other Italian and ex-Yugoslav population samples.

Genetic polymorphisms in the Croatian ethno-linguistic minority of Italy.

Phenotype and gene frequencies of twelve genetic markers (ABO, RH, MNS, ACP1, ESD, PGD, PGM1, PGM2, HB, ALB, CP and HP) of the three Croatian communities (Acquaviva Collecroce, Montemitro and S. Felice del Molise) living in Southern Italy are reported. From the comparison with the surrounding Italian population and with Balkan populations, some instances of still incomplete genetic admixture can be inferred (ABO*A and O, ESD, PGD and PGM1).

Red cell polymorphisms in Sardinia.

Acid phosphatase (ACP1), esterase D (ESD) and phosphoglucomutase 1 (PGM1) polymorphisms have been studied in Sardinia and the following gene frequencies have been found: ACP1*A = 0.235, ACP1*B = 0.684 and ACP1*C = 0.081; ESD*2 = 0.118 and PGM1*2 = 0.233. These findings confirm the genetic uniqueness of Sardinians compared to the other Italian and European populations.

Some erythrocyte polymorphisms in Bari and its district (South Italy).

Seven erythrocyte polymorphisms, namely AcP, PGM1, PGM2, EsD, GLO I, G-6-PD and Hb, have been typed in 556 unrelated adult male subjects from Bari (South Italy) and its district. The gene frequencies obtained in this sample are compared with the hitherto reported corresponding data from other Italian population samples. The results are critically discussed.

An anthropobiological study in Basse Kotto (Central Africa). I. Erythrocyte and sero-genetic markers: an analysis of the genetic differentiation.

Phenotype and allele frequencies for hemoglobin types (Hb beta), acid phosphatase (AcP), phosphoglucomutase (PGM1 and PGM2), esterase D (EsD), 6-phosphogluconate dehydrogenase (6-PGD), glyoxalase I (GLO), superoxide dismutase (SOD A), and adenylate kinase (AK) as well as for haptoglobins (Hp), group-specific component (Gc), transferrin (Tf), Gm, and Inv groups and albumin, are reported in the Mbugu, Sango, Yakpa, and Baya Mandja ethnic groups in the Basse Kotto district of the Central African Republic. The total sample size amounts to 133 males and 128 females aged from 16 to 60, unrelated and healthy. A new albumin variant (albumin Mbugu) is described and discussed. The average heterozygosity is high in each group because of a high degree of exogamy. the FST average standardized value among the four groups indicates that the genetic differentiation in Basse Kotto is at level of about 2%. This indicates that the four examined groups might be considered genetically homogeneous, in spite of their different ethnic origins. The genetic distances among the four groups show that only the Baya Mandja are less closely related to the other three groups because of their foreign origin.

Population genetics of red cell and serum markers in the four Albanian communities of Molise, Italy.

In this paper phenotype and gene frequencies of ten genetic markers (AK, AP, EsD, 6-PGD, PGM1, PGM2, Hb, Alb, Cp and Hp) of the four Albanian communities (Campomarino, Montecilfone, Portocannone and Ururi) living in Molise are reported. The gene frequencies show a high variability. The heterogeneity analysis among these villages could demonstrate significant differences between Campomarino and Montecilfone and between Campomarino and Ururi. It is interesting to note that the demographic analysis has shown the highest rate of immigration and the lowest percentages of endogamy, Albanian surnames and Albanian-speaking individuals in Campomarino. Against that Montecilfone and Ururi are showing opposite values for the same parameters. The genetic data are also indicating some differences between these Albanian communities and the Italian population. A comparison with the present population of Albany is not possible because of the lack of data.

Some genetic erythrocyte polymorphisms in the Mbugu and other populations of the Central African Republic with an analysis of genetic distances.

Phenotype and gene frequencies of four blood group polymorphisms (ABO, MNSs, Rhesus, and Duffy) as well as hemoglobin types of four populations of the Republic of Central Africa are reported. All these polymorphisms are in Hardy-Weinberg equilibrium. Regarding the four blood group polymorphisms mentioned above the genetic distances according to NEI have been computed for fifteen populations of the Central-Eastern and Central-Western areas of Africa, including the four own samples. The results of these analyses are discussed.

Blood polymorphism frequencies in the Tofinu, the "Water Men" of Southern Benin.

Informations on the genetic constitution (AcP, EsD, PGM1, AK, 6-PGD, Hb, Hp, Cp and Gc blood systems) of the Tofinu, a lacustrine population living in the pile-work of the Guinean coast (Southern Benin), are reported. The Tofinu gene frequencies are much as would be expected from the geographical position of this country. The AcP, Hp and Hb beta gene frequencies are compared with those of the other ethnic groups of Southern Benin as the Goun, Fon, Djedje, and Nago, using the contingency chi-square test of homogeneity. On the average, the five groups do not show any significant differences. Thus it results that there seems to be a common genetic origin and that the cultural-linguistic differentiation followed the evolutive biological process for the populations of this country.

The AcP polymorphism frequencies in the Mbugu and Sango of Central Africa. (Correlations between the Pr allele frequencies and some climatic factors in Africa).

This paper reports AcP frequencies in the Mbugu and Sango of Central Africa. Among 39 sub-Saharan populations, correlations between Pr allele frequencies and latitude, humidity and altitude indicate that AcP frequencies are significantly correlated with humidity, temperature and altitude. The first-order correlations (constant humidity) diminish by approximately 70% relative to the zero-order correlation.