Exploratory Study of the Association of Genetic Factors With Recovery of Adrenal Function in Cushing Disease
Published by Oxford University Press on behalf of the Endocrine Society 2023..
Successful treatment of endogenous Cushing disease (CD) is often followed by a period of adrenal insufficiency (AI). We performed an exploratory study on genetic factors potentially involved in the hypothalamic-pituitary-adrenal (HPA) axis recovery in patients with CD after remission. We identified 90 patients who achieved remission after surgery and had a minimum of 3 months follow-up. Variants in a selected panel of genes that were rare in the general population and predicted as damaging in silico were retrieved from whole exome sequencing analysis. We did not identify any variant with significant correlation with recovery time after adjusting for multiple comparisons. On gene-specific analysis the BAG1 gene showed a correlation with shorter duration of postsurgical AI, but both patients with BAG1 variants later experienced a recurrence. After excluding patients with recurrence, no statistical association was recorded. To conclude, we did not identify a strong genetic modifier of HPA recovery in this exploratory study.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
|---|---|
| Enthalten in: |
Journal of the Endocrine Society - 7(2023), 6 vom: 05. Mai, Seite bvad046 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Nguyen, Matthew H [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Adrenal insufficiency |
|---|
| Anmerkungen: |
Date Revised 05.06.2023 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
|---|
| doi: |
10.1210/jendso/bvad046 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM356562522 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM356562522 | ||
| 003 | DE-627 | ||
| 005 | 20231226070728.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1210/jendso/bvad046 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1188.xml |
| 035 | |a (DE-627)NLM356562522 | ||
| 035 | |a (NLM)37153111 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Nguyen, Matthew H |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Exploratory Study of the Association of Genetic Factors With Recovery of Adrenal Function in Cushing Disease |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 05.06.2023 | ||
| 500 | |a published: Electronic-eCollection | ||
| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Published by Oxford University Press on behalf of the Endocrine Society 2023. | ||
| 520 | |a Successful treatment of endogenous Cushing disease (CD) is often followed by a period of adrenal insufficiency (AI). We performed an exploratory study on genetic factors potentially involved in the hypothalamic-pituitary-adrenal (HPA) axis recovery in patients with CD after remission. We identified 90 patients who achieved remission after surgery and had a minimum of 3 months follow-up. Variants in a selected panel of genes that were rare in the general population and predicted as damaging in silico were retrieved from whole exome sequencing analysis. We did not identify any variant with significant correlation with recovery time after adjusting for multiple comparisons. On gene-specific analysis the BAG1 gene showed a correlation with shorter duration of postsurgical AI, but both patients with BAG1 variants later experienced a recurrence. After excluding patients with recurrence, no statistical association was recorded. To conclude, we did not identify a strong genetic modifier of HPA recovery in this exploratory study | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Cushing disease | |
| 650 | 4 | |a HPA axis | |
| 650 | 4 | |a adrenal insufficiency | |
| 650 | 4 | |a genetics | |
| 650 | 4 | |a pituitary | |
| 700 | 1 | |a Zhang, Wei |e verfasserin |4 aut | |
| 700 | 1 | |a Pankratz, Nathan |e verfasserin |4 aut | |
| 700 | 1 | |a Lane, John |e verfasserin |4 aut | |
| 700 | 1 | |a Chitiboina, Prashant |e verfasserin |4 aut | |
| 700 | 1 | |a Faucz, Fabio R |e verfasserin |4 aut | |
| 700 | 1 | |a Mills, James L |e verfasserin |4 aut | |
| 700 | 1 | |a Stratakis, Constantine A |e verfasserin |4 aut | |
| 700 | 1 | |a Tatsi, Christina |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of the Endocrine Society |d 2017 |g 7(2023), 6 vom: 05. Mai, Seite bvad046 |w (DE-627)NLM272607959 |x 2472-1972 |7 nnns |
| 773 | 1 | 8 | |g volume:7 |g year:2023 |g number:6 |g day:05 |g month:05 |g pages:bvad046 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1210/jendso/bvad046 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 7 |j 2023 |e 6 |b 05 |c 05 |h bvad046 | ||