Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

Isabella Friis Jørgensen; Francesco Russo; Anders Boeck Jensen; David Westergaard; Mette Lademann; Jessica Xin Hu; Søren Brunak; Kirstine Belling

doi:10.1038/s41436-019-0519-9

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

Isabella Friis Jørgensen, Francesco Russo, Anders Boeck Jensen, David Westergaard, Mette Lademann, Jessica Xin Hu, Søren Brunak, Kirstine Belling^*

^*Corresponding author for this work

Disease Systems Biology Program

4 Citations (Scopus)

2 Downloads (Pure)

Abstract

PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.

METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.

RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.

CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.

Original language	English
Journal	Genetics In Medicine
Volume	21
Number of pages	11
ISSN	1098-3600
DOIs	https://doi.org/10.1038/s41436-019-0519-9
Publication status	Published - 1 Nov 2019

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Comorbidity landscape of the Danish patient population affected by chromosome abnormalitiesFinal published version, 0.99 MB

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title = "Comorbidity landscape of the Danish patient population affected by chromosome abnormalities",

abstract = "PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.",

author = "J{\o}rgensen, {Isabella Friis} and Francesco Russo and Jensen, {Anders Boeck} and David Westergaard and Mette Lademann and Hu, {Jessica Xin} and S{\o}ren Brunak and Kirstine Belling",

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doi = "10.1038/s41436-019-0519-9",

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T1 - Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

AU - Jørgensen, Isabella Friis

AU - Russo, Francesco

AU - Jensen, Anders Boeck

AU - Westergaard, David

AU - Lademann, Mette

AU - Hu, Jessica Xin

AU - Brunak, Søren

AU - Belling, Kirstine

PY - 2019/11/1

Y1 - 2019/11/1

N2 - PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.

AB - PURPOSE: Most chromosome abnormality patients require long-term clinical care. Awareness of mosaicism and comorbidities can potentially guide such health care. Here we present a population-wide analysis of direct and inverse comorbidities affecting patients with chromosome abnormalities.METHODS: We extracted direct and inverse comorbidities for the 11 most prevalent chromosome abnormalities from the Danish National Patient Registry (covering 6.9 million patients hospitalized between 1994 and 2015): trisomy 13, 18, and 21, Klinefelter (47,XXY), triple X, XYY, Turner (45,X), Wolf-Hirschhorn, Cri-du-chat, Angelman, and Fragile X syndromes (FXS). We also performed four sub-analyses for male/female Down syndrome (DS) and FXS and non-mosaic/mosaic DS and Turner syndrome.RESULTS: Our data cover 9,003 patients diagnosed with at least one chromosome abnormality. Each abnormality showed a unique comorbidity signature, but clustering of their profiles underlined common risk profiles for chromosome abnormalities with similar genetic backgrounds. We found that DS had a decreased risk for three inverse cancer comorbidities (lung, breast, and skin) and that male FXS and non-mosaic patients have a much more severe phenotype than female FXS and mosaic patients, respectively.CONCLUSION: Our study underlines the importance of considering mosaicism, sex, and the associated comorbidity profiles of chromosome abnormalities to guide long-term health care of affected patients.

U2 - 10.1038/s41436-019-0519-9

DO - 10.1038/s41436-019-0519-9

M3 - Journal article

C2 - 31019277

SN - 1098-3600

VL - 21

JO - Genetics In Medicine

JF - Genetics In Medicine

ER -

Comorbidity landscape of the Danish patient population affected by chromosome abnormalities

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