Multicentric genome-wide association study for primary spontaneous pneumothorax

Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22–2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08–2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29–2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.

A segunda vida da Praia dos Espanhóis: dançarinos, pescadores e turistas no sul de Portugal

Abstract: In this text, we deal with proccesses of appropriation of space in the Dam of Póvoa (Portugal) using a dwelling perspective (Ingold 2009) over the territory. The reconversion of innactive spaces in rural areas into leisure-related ones in a quite common practice in contemporary times.The Spaniards beach is one of the local names given by locals to the Dam of Póvoa (Castelo de Vide), in northern Alentejo (Portugal). In the collective memory of the residents, the Dam (built in the 1920’s) is remembered for the many flowers surrounding the area. This Garden-style aesthetics has outlived the initial function of the Dam (to produce electric power). From the 1960’s to the 1980’s, it was also a popular leisure space for Spanish and Portuguese people. It is not a beach, but being inland, it was the closest thing to a beach the residents had. The centrality of this leisure space in the area only decayed after the construction of swimming pools in the nearby towns. Early in the begginning of 21st century a fire destroyed part of the natural floral landscape of the dam. Abandoned for some years, the place has still been appropriated by leisured people in day-trips (for sight-seeing, pic-nics), fishing competitions, caravan soujorns, and, since 2013, in a music and dance festival named Andanças (www.andancas.net). The research that underlies this paper was carried out between 2013 and 2016 by a team of anthropologists. An ethnography of the Dam and its uses, and of the festival and its participants was carried out. In our working-paper we higlight the main research findings achieved. Key-words: Leisure; Landscape; Tourism; Music; Space; Portugal.