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

doi:10.1038/s41431-019-0381-x

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 journal › Conference Abstract/Poster in journal › Academic

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 language	English
Pages (from-to)	1304-1305
Number of pages	2
Journal	European Journal of Human Genetics
Volume	27
DOIs	https://doi.org/10.1038/s41431-019-0381-x
Publication status	Published - Oct 2019
Event	52nd Conference of the European-Society-of-Human-Genetics (ESHG) - Gothenburg, Sweden Duration: 15 Jun 2019 → 18 Jun 2019

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10.1038/s41431-019-0381-xLicence: CC BY

Cite this

Calore, M., Poloni, G., Postma, A. V., Lorenzon, A., Minervini, G., Vazza, G., Li Mura, I. E. A., Telatin, A., Zara, I., Simionati, B., Ponti, J., Occhi, G., Vitiello, L., Bauce, B., Tosatto, S. C. E., van Tintelen, P. J., Rampazzo, A., & De Bortoli, M. (2019). Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients. European Journal of Human Genetics, 27, 1304-1305. https://doi.org/10.1038/s41431-019-0381-x

@article{37d6d77c31974ab58989ba40b4e69d1a,

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

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.",

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

year = "2019",

month = oct,

doi = "10.1038/s41431-019-0381-x",

language = "English",

volume = "27",

pages = "1304--1305",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

note = "52nd Conference of the European-Society-of-Human-Genetics (ESHG) ; Conference date: 15-06-2019 Through 18-06-2019",

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Calore, M, Poloni, G, Postma, AV, Lorenzon, A, Minervini, G, Vazza, G, Li Mura, IEA, Telatin, A, Zara, I, Simionati, B, Ponti, J, Occhi, G, Vitiello, L, Bauce, B, Tosatto, SCE, van Tintelen, PJ, Rampazzo, A & De Bortoli, M 2019, 'Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients', European Journal of Human Genetics, vol. 27, pp. 1304-1305. https://doi.org/10.1038/s41431-019-0381-x

TY - JOUR

T1 - Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients

AU - Calore, M.

AU - Poloni, G.

AU - Postma, A. V.

AU - Lorenzon, A.

AU - Minervini, G.

AU - Vazza, G.

AU - Li Mura, I. E. A.

AU - Telatin, A.

AU - Zara, I.

AU - Simionati, B.

AU - Ponti, J.

AU - Occhi, G.

AU - Vitiello, L.

AU - Bauce, B.

AU - Tosatto, S. C. E.

AU - van Tintelen, P. J.

AU - Rampazzo, A.

AU - De Bortoli, M.

PY - 2019/10

Y1 - 2019/10

N2 - 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.

AB - 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.

U2 - 10.1038/s41431-019-0381-x

DO - 10.1038/s41431-019-0381-x

M3 - Conference Abstract/Poster in journal

SN - 1018-4813

VL - 27

SP - 1304

EP - 1305

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

T2 - 52nd Conference of the European-Society-of-Human-Genetics (ESHG)

Y2 - 15 June 2019 through 18 June 2019

ER -