Distribution of 15 autosomal STRs in the region of Sarrabus, Sardinia (Italy)

In this paper we report, for the first time, on the distribution of 15 autosomal short tandem repeats (STRs) in Sarrabus, a region in south east Sardinia (Italy), for which there are no data in the literature. Samples were obtained from 77 unrelated normal subjects born and living in the three main villages of Sarrabus. In spite of being a homogeneous population, a high degree of polymorphism was observed: heterozygosity values range from 0.618 to 0.848 and Polymophism Information Content (PIC) values range from 0.579 to 0.853. When compared to other Sardinian populations, our data showed that Sarrabus is genetically well differentiated. This finding is consistent with the notion that Sardinia, although regarded as a homogeneous population, shows genetic heterogeneity when different microareas are analyzed. The implication in forensic medicine of our results, which describe a missing population, are discussed

No association of endocannabinoid genes with bipolar disorder or lithium response in a Sardinian sample

Bipolar disorder (BD) is a chronic and severe psychiatric condition with an underlying component of genetic susceptibility. Mounting evidence suggests a potential role of the endogenous cannabinoid (eCB) system in the pathogenesis of BD. Here we investigated the role of genes encoding for key eCB elements on the risk of developing BD in a sample of 357BD patients and 422 healthy controls of Sardinian ancestry. Using the HapMap CEU population SNP database, we selected 25 tag Single Nucleotide Polymorphisms (tSNPs) in N-acyl phosphatidylethanolamine phospholipase D (NAPE-PLD), cannabinoid receptor 1 (CNR1) and fatty acid amide hydrolase (FAAH) genes. No significant association was reported for FAAH or CNR1. SNPs rs11487077 and rs6465903 in NAPE-PLD showed nominal association (p=0.033 and p=0.026, respectively) with BD, not significant after permutation testing. These SNPs were also tested for association with lithium response in 204 BD patients characterized for response to long-term lithium treatment, reporting no significant findings. As a whole, our results do not support a clear role of FAAH, CNR1 and NAPE-PLD in BD and lithium response. Additional studies on independent, larger samples are warranted to further explore the involvement of the eCB system in BD