ACP1 y la asociación entre obesidad y diabetes tipo 2. Un estudio confirmatorio / ACP1 AND THE ASSOCIATION BETWEEN OBESITY AND TYPE 2 DIABETES . A CONFIRMATION STUDY

En un estudio previo sobre sujetos con enfermedades cardiovasculares (ECV) hemos observado que en los pacientes obesos con genotipo *B/*B en el gen ACP1, la proporción de pacientes con diabetes mellitus tipo 2 (DM2) es significativamente menor en comparación con pacientes con otros genotipos en el gen ACP1. En este trabajo hemos llevado a cabo un nuevo estudio en sujetos con DM2 sin ECV y en sujetos no diabéticos sin ECV. Hemos estudiado 277 sujetos con DM2 sin ECV y 137 sujetos sanos sin DM2 y sin ECV. Se obtuvo el consentimiento informado de estos sujetos para participar en el estudio que fue aprobado por el Departamento institucional respectivo. El genotipo presente en el gen ACP1 se determinó por análisis de ADN. Las pruebas estadísticas fueron realizadas con el programa SPSS. El genotipo *B/*B que está asociado con la mayor concentración de isoforma F ejerce un efecto protector sobre la susceptibilidad a la DM2 en sujetos obesos. Se observa una correlación negativa entre la concentración de la isoforma F y el índice de probabilidades para la susceptibilidad a la DT2 en sujetos obesos. La presente observación confirma la asociación previamente observada en sujetos con ECV haciendo improbable la posibilidad de un mero artefacto casual de muestreo. La expresión de las isoformas de ACP1 en el tejido adiposo a través de una acción sobre la proteína de unión a los lípidos de los adipocitos y el metabolismo de los lípidos puede ejercer un papel importante en la susceptibilidad a la DM2 en sujetos obesos.

In a previous study on subjects with cardiovascular diseases (CVD) we have observed that in obese patients with ACP1*B/*B genotype the proportion of those with type 2 diabetes (T2D) is significantly lower as compared to other ACP1 genotypes. We have now carried a new study in subjects with T2D without CVD and in non diabetic subjects without CVD. We have studied 277 subjects with T2D without CVD and 137 healthy subjects without T2D and without CVD. Iinformed consent was obtained from these subjects to participate to the study that was approved by the Council of Department. ACP1 genotype was determined by DNA analysis. Statistical tests were carried out by SPSS programs. ACP1*B/*B genotype which is associated with the highest concentration of F isoform exerts a protective effect on susceptibility to T2D in obese subjects. A negative correlation is observed between F isoform concentration and odds ratio for susceptibility to T2D in obese subjects The present observation confirms the association previously observed in subjects with CVD making unlikely the possibility of a mere sampling chance artifact. The expression of ACP1 isoforms in adipose tissue trough an action on adipocytes lipid binding protein and lipid metabolism may exert an important role in the susceptibility to T2D in obese subjects

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. RESULTS: The correlation coefficient between birth weight and placental weight is much higher in infants with low activity AK12-1 phenotype than in those with high activity AK11 phenotype. The difference between AK1 and AK12-1 is well marked only in newborns with a gestational age greater than 38 weeks and it is not influenced by sex, maternal age and maternal smoking. A similar pattern is observed with maternal AK1 phenotype. CONCLUSIONS: These results suggest that the difference in enzymatic activity between AK1 phenotypes influencing the equilibrium among ATP, ADP, AMP and adenosine could have an important role in a balanced development of feto-placental unit.

Prevalence and genotyping of human papillomavirus infection in women with vulvodynia.

BACKGROUND: Evidence of vulvar human papillomavirus infection varies and the frequency of the different genotypes has not been adequately assessed. METHODS: Fifty consecutive sexually active healthy patients with vulvodynia and suspected of human papillomavirus infection underwent a vulvoscopy and biopsy. Ten normal vulvar samples were also enrolled as control. Histological and vulvoscopic findings were compared in relation to human papillomavirus-DNA presence and genotyping by a broad-spectrum polymerase chain reaction and reverse hybridization line probe assay. RESULTS: Although the clinical and histological diagnoses did not always coincide, a good association was found (p<0.0001). Human papillomavirus-DNA was detected in 42% of all biopsies and in none of the controls, and less frequently in acetowhite-positive patients (33.3%, p<0.03). Squamous papillomatosis (74%) was the most frequent histological diagnosis, followed by condyloma (20%). Condyloma (90%) but not squamous papillomatosis (29.7%) was significantly associated with human papillomavirus-DNA presence. Out of the vulvoscopically normal patients, one (33%) was human papillomavirus-DNA positive. Out of the recorded microscopic features, only koilocytosis was associated with human papillomavirus-DNA presence. Eight different human papillomavirus genotypes were detected: high-risk 16 (43%), 31 (19%), 52 (14.3%), 68, and 59 (4.8% each), and low-risk types 6 (71.4%), 11, and 40 (4.8% each); 33.3% of infections were multiple, ranging from 2 to 4 genotypes. Out of the human papillomavirus-DNA positive squamous papillomatosis, 72.7% showed a high-risk type but the infection remained episomal. CONCLUSIONS: Our data confirm human papillomavirus as a frequent cause of vulvodynia and its frequent association with squamous papillomatosis or condyloma. The high-risk human papillomavirus in squamous papillomatosis suggests screening for possible undiagnosed cervical infection.