Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients

M. Calore, G. Poloni, A. V. Postma, A. Lorenzon, G. Minervini, G. Vazza, I. E. A. Li Mura, A. Telatin, I. Zara, B. Simionati, J. Ponti, G. Occhi, L. Vitiello, B. Bauce, S. C. E. Tosatto, P. J. van Tintelen, A. Rampazzo, M. De Bortoli

Research output: Contribution to journalConference Abstract/Poster in journalAcademic

Abstract

The aim of the present study was to define the mtDNA variability of Polish population and to visualize the genetic relations between Poles. For the first time, the study of Polish population was conducted on such a large number of individuals (5852) representing administrative units of both levels of local administration in Poland (voivodeships and counties). Additionally, clustering was used as a method of population subdivision. Performed genetic analysis, included F-ST, MDS plot, AMOVA and SAMOVA. Haplogroups were classified and their geographical distribution was visualized using surface interpolation maps. Results of the present study showed that Poles are characterized by the main West Eurasian mtDNA haplogroups. Furthermore, the level of differentiation within the Polish population was quite low but the existing genetic differences could be explained well with geographic distances. This may lead to a conclusion that Poles can be considered as genetically homogenous but with slight differences, highlighted at the regional level. Some patterns of variability were observed and could be explained by the history of demographic processes in Poland such as resettlements and migrations of women or relatively weaker urbanisation and higher rural population retention of some regions.
Original languageEnglish
Pages (from-to)1304-1305
Number of pages2
JournalEuropean Journal of Human Genetics
Volume27
DOIs
Publication statusPublished - Oct 2019
Event52nd Conference of the European-Society-of-Human-Genetics (ESHG) - Gothenburg, Sweden
Duration: 15 Jun 201918 Jun 2019

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