An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F19%3A10394363" target="_blank" >RIV/00064165:_____/19:10394363 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/19:10394363 RIV/00216208:11130/19:10394363 RIV/00216208:11150/19:10394363 RIV/00216208:11320/19:10394363 and 3 more
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=FhYcswjXCb" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=FhYcswjXCb</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1515/jpem-2019-0067" target="_blank" >10.1515/jpem-2019-0067</a>
Alternative languages
Result language
angličtina
Original language name
An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
Original language description
Background: Females with Turner syndrome (TS) are prone to develop autoimmune diseases (AIDs). The X chromosome contains several immune-related genes. Growth hormone (GH) and estrogens modulate the immune system. We aimed to clarify whether the loss of a specific X chromosome gene locus and the administration of GH and estradiol facilitate the development of AIDs in TS females. Methods: Retrospective data on clinical course, AIDs, karyotype and treatment were analyzed from a cohort of 286 Czech females with TS (current age 2.8-43.3 years; median age 18.7 years). The karyotypes were sorted using two different classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused approach. Karyotype subgroups with a significantly higher prevalence of AIDs were further evaluated. Data of common therapies were correlated with the prevalence of AIDs. Results: The most frequent AIDs were autoimmune thyroid disease (AITD; 37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups were prone to develop AIDs. Females with an isolated Xp deletion had a significantly higher prevalence of AITD and CD compared to all other individuals with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04, respectively). We observed no link between the mean age at initiation as well as the duration of GH and/or estrogen administration and the occurrence of AIDs. Conclusions: Isolated Xp deletion contributes to the development of AIDs in TS patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this observation. Common therapies used in TS do not modify the risk of AIDs.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
<a href="/en/project/NV17-29111A" target="_blank" >NV17-29111A: A key role of the karyotype in risk stratification for the premature cardiovascular morbidity and mortality in females with Turner syndrome</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Pediatric Endocrinology & Metabolism
ISSN
0334-018X
e-ISSN
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Volume of the periodical
32
Issue of the periodical within the volume
5
Country of publishing house
DE - GERMANY
Number of pages
10
Pages from-to
479-488
UT code for WoS article
000467531200007
EID of the result in the Scopus database
2-s2.0-85065705206