Title :

Genetic biomarkers of life-threatening pheochromocytoma-induced cardiomyopathy.

Author(s) :

Amar, Jacques [Auteur]
Institut des Maladies Métaboliques et Casdiovasculaires [UPS/Inserm U1297 - I2MC]
Brunel, Jeremy [Auteur]
Cardot Bauters, Catherine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Jacques, Virginie [Auteur]
Laboratoire Hématologie - IFB [CHU Toulouse]
Delmas, Clément [Auteur]
Institut des Maladies Métaboliques et Casdiovasculaires [UPS/Inserm U1297 - I2MC]
Odou, Marie-Francoise [Auteur]
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Savagner, Frédérique [Auteur]
Institut Fédératif de Biologie (IFB)

Journal title :

Endocrine-Related Cancer

Abbreviated title :

Endocr Relat Cancer

Volume number :

29

Pages :

267–272

Publication date :

2022-03-13

ISSN :

1479-6821

English keyword(s) :

pheochromocytoma
paraganglioma
genetic biomarkers
catecholamine receptors catecholamine-induced cardiomyopathy

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

The release of excessive amounts of catecholamine by pheochromocytoma–paragangliomas (PPGL) can lead to life-threatening catecholamine-induced cardiomyopathy (CIC). Single-nucleotide polymorphisms of the beta1 and alpha-2c ...
Show more >The release of excessive amounts of catecholamine by pheochromocytoma–paragangliomas (PPGL) can lead to life-threatening catecholamine-induced cardiomyopathy (CIC). Single-nucleotide polymorphisms of the beta1 and alpha-2c adrenergic receptors alter myocyte receptor function and enhanced norepinephrine release. We tested the hypothesis that such genetic variations may impact the risk of developing CIC in the context of PPGL. Thirty-one patients with PPGL, including nine with a history of CIC, were analyzed for alpha-2-adrenergic receptors: ADRA2C, beta-1 and beta-2 adrenergic receptors: ADRB1 and ADRB2 genotyping. CIC was defined either by a history of heart failure or cardiogenic shock associated with dilated or Takotsubo cardiomyopathy. Subjects were genotyped for ADRA2C (rs61767072 for del322_325), ADRB1 (rs1801252 for Ser49Gly and rs1801253 for Arg389Gly) and ADRB2 (rs1042713 for Arg16Gly and rs1042714 for Gln27Glu). Single-locus analysis revealed that variant in ADRA2C (alpha 2CDel322–325) was more common among patients with CIC than among controls (allele frequency, 0.44 vs 0.05; P< 0.001). The lack of alpha 2CDel322–325 polymorphism has a negative predictive value of 95% for the onset of CIC. In a replication cohort including 26 patients with PPGL whom eight have developed a CIC, the association between Alpha 2CDel322–325 and CIC was confirmed (allele frequency, 0.33 vs 0.; P= 0.0001). In conclusion, Alpha 2CDel322–325 through the identification of patients at low risk of developing CIC can help physicians to better determine the most appropriate therapeutic approach, notably in patients at high risk of surgical complications.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Submission date :

2024-01-12T02:06:41Z
2024-03-19T12:40:03Z