Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and senile cataract in a Sardinian male population,Italy

Purpose: There is still no general agreement on the role of G6PD deficiency in the pathogenesis of cataract. The purpose of this study was to determine the prevalence of G6PD deficiency in men with senile cataract from Northern Sardinia, Italy, and to compare it with the prevalence rate of G6PD deficiency in the general population of the same area.

Methods: G6PD activity was determined by using a quantitative method. G6PD blood levels were measured in 1,620 men with cataract. The control group consisted of 1,646 apparently healthy male subjects from the same area. All patients were of Sardinian origin. The Z or Student’s t test was used, when appropriate, to determine differences between groups. The odds ratio (OR) with 95% confidence interval was used to evaluate the association between age-related cataract and G6PD deficiency.

Results: G6PD deficiency was found in 133 (8.2%) out of 1,620 patients with cataract and in 120 (7%) out of 1,646 control subjects. Differences in G6PD prevalence between cataract patients and controls were not statistically significant (P=0.64). There was no age-related statistical difference between G6PD deficient and normal patients with cataract. No statistically significant association between age-related cataract and G6PD deficiency was found (OR=1.14; 95% confidence interval: 0.88–1.47).

Conclusions: The results of this large study suggest that male patients with G6PD deficiency in the Sardinian population do not have a higher risk of developing presenile cataract. G6PD deficiency does not represent a pathogenetic factor for early cataract formation, at least not in the Northern part of Sardinia.     

Bluetongue virus serotypes 1 and 4 in Sardinia during autumn 2012: New incursions or re-infection with old strains?

Since 2000 several bluetongue virus (BTV) incursions have occurred in Sardinia (Italy) involving serotypes 1, 2, 4, 8 and 16. In October 2012, new BT outbreaks caused by BTV-1 and BTV-4 were reported. Nearly 500 flocks were infected and 9238 sheep died because of the infection. When sequenced, Seg-10 of both strains shared 99% similarity at nucleotide level with BTV strains that have circulated in the Mediterranean basin in the last few years. Similarly, Seg-5 sequences of BTV-1 and BTV-4 newly isolated Sardinian strains are identical and cluster together with recent BTV-1 circulating in the Mediterranean Basin and the BTV-4 strains isolated in Tunisia in 2007 and 2009. These BTV-4 strains differ from the ones that circulated in Europe from 2003 to 2005 and appear to be reassortant strains.     

Hb F-Emirates [Gγ59(E3)Lys→Glu] Observed in a Family of Sardinian Ancestry and Characterized by DNA Sequencing

Hb F-Emirates [^Gγ59(E3)Lys→Glu] was first described in a newborn from the United Arab Emirates. Here we describe the occurrence of this variant in a family of Sardinian ancestry. Direct DNA sequencing analysis of the selectively amplified ^Gγ gene shows that the AAA→GAA transition, corresponding to a Lys→Glu substitution, is responsible for this abnormal hemoglobin (Hb). Our observation indicates a multiple origin of the mutation. In order to facilitate future studies at the level of population genetics, the structure of the entire ^Gγ gene that carries the mutation was assessed and compared with that of normal ^Gγ genes.     

HLA-DRB1*01 and DRB1*04 alleles in Sardinian rheumatoid arthritis patients

In Sardinia, like in other Caucasoid populations, rheumatoid arthritis (RA) is significantly associated with HLA-DR4 and DR1 antigens. To discover which DR4 and DR1 alleles were associated with the disease we selected 22 Sardinian patients affected by RA. Fifty DR4+ and 28 DR1+ healthy individuals coming from the same geographical area were used as controls. In the Sardinian patients only two DRB1*04 alleles were observed: DRB1*0405 in 11 and DRB1*0403 in three patients. The DRB1*0102 allele was observed in two patients and DRB1*0101 in six patients. Hereditary predisposition to RA in Sardinia therefore seems to be almost exclusively associated with the DRB1*0405 and DRB1*0101 alleles which share the 67LLEQRRAA74-85VG86 epitope in the peptide binding groove.     

The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations

In this study we have established the frequencies of the DRB1-DQA1-DQB1 haplotypes in a large cohort of Sardinian new-borns and found that the most frequent haplotypes were detected at frequencies unique to the Sardinians. Other haplotypes, common in other Caucasian populations, are rare or absent across the island. Next, the DRB1-DQA1-DQB1 haplotype frequencies obtained in Sardinians and those reported in other human populations were used to compute genetic distances and construct phylogenetic trees. A clear-cut pattern appeared with a split between the three major human groups: Caucasians, Asians and Blacks. Among the Caucasians there were three major clusters: a group representing the North-Africans, a group including most of the European-derived populations and a group encompassing Bulgaria, Greece and Sardinia. When we increased the resolution of the tree using the genetic distances calculated from both DRB1-DQA1-DQB1 haplotypes and class I HLA A, B, C allelic frequencies, the Sardinians clearly emerged as the major outlier among the various European populations considered in this study. These results indicate that the genetic structure of the present Sardinian population is the result of a fixation of haplotypes, which are very rare elsewhere, and are most likely to have originated from a relatively large group of founders.     

Alcohol Use and Correlates of Binge Drinking among University Students on the Island of Sardinia,Italy

An anonymous questionnaire was administered to a sample of 1,911 students at Sardinia's main university during the fall of 1997. The questionnaire assessed various behaviors relating to alcohol including its use during or outside meals and binge drinking, defined as five or more drinks in a row. A significantly higher number of males reported drinking alcohol outside of meals and binge drinking than females, and males were also more likely to report impaired driving and consequences after drinking alcohol than females. A logistic regression model was used to determine correlates of binge drinking using demographics, health-risk behaviors, and leisure activities. The model confirmed being a male as one of the strongest correlates, but also included first drinking alcohol before age 17, marijuana use, living away from parents, cigarette use, having multiple sex partners, and exercising. The results indicate that alcohol use is prevalent among university students and is related to the use of other substances. Further investigation is warranted with particular attention paid to gender as a determinant of use.