Polimorfizmi gena za glukokortikoidne receptore i rizik metaboličkoga sindroma u bolesnika s incidentalomom nadbubrežne žlijezde

doctoral thesis

• Title (english): Glucocorticoid receptor gene polymorphisms and the risk of metabolic syndrome in patients with adrenal incidentaloma
• Author: Bojana Šimunov
• Mentor: Darko Kaštelan (mentor)
• Committee member: Lea Smirčić-Duvnjak (predsjednik povjerenstva)
• Committee member: Fran Borovečki (član povjerenstva)
• Committee member: Davor Tomas (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; Zagreb
• Defense date and country: 2021-04-26, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine
• Universal decimal classification (UDC): 616 - Pathology. Clinical medicine

Abstract

Istraživanja su pokazala da su adrenalni incidentalomi (AI) povezani s većom
učestalošću arterijske hipertenzije (AH), pretilosti i šećerne bolesti (DM). Polimorfizmi
gena za glukokortikoidni receptor (GR) povezani su s povećanom (BclI, N363S) ili
smanjenom osjetljivošću (ER22/23EK). Svrha istraživanja bila je ispitati povezanost
polimorfizama gena za GR i rizika metaboličkog sindroma (MetS) i njegovih
komponenti u bolesnika s AI.
Uključeni su bolesnici s verificiranim AI. Evaluirana je prisutnost DM, AH,
dislipidemije i pretilosti. Učinjen je prekonoćni deksametazonski test supresije radi
evaluacije autonomne sekrecije kortizola (ASK). Određeni su polimorfizmi BclI, N363S
i ER22/23EK.
Analizirana su 103 bolesnika (M 29.1%, dob 59.17±10.31 godina). 69.9%
bolesnika imalo je AH, 14.6% DM te dislipidemiju 46.6%. Pretilih je bilo 74.8%. MetS
je imalo 57.3%, a ASK 50.5% bolesnika. U bolesnika s AI polimorfizam N363S je bio
učestaliji nego u kontrolnoj populaciji (χ 2=12.05, p<0.001), dok za polimorfizme BclI i
ER22/23 nije bilo razlike (χ 2=0.48, p=0.48, odnosno χ 2=0.01, p=0.93). Nije nađeno
razlika u komorbiditetima ili hormonskom statusu između nositelja polimorfizama i
divljeg tipa.
Polimorfizmi BclI, N363S i ER22/23EK gena za GR kod bolesnika s AI nisu
povezani s rizikom nastanka MetS kao niti njegovih komponenti: AH, DM,
dislipidemije i pretilosti.

Abstract (english)

Adrenal incidentalomas (AI) have been associated with an increased prevalence
of arterial hypertension (AH), obesity, dyslipidemia and diabetes (DM). We aimed to
investigate whether glucocorticoid receptor gene polymorphisms (BclI, N363S and
ER22/23EK) were associated with the risk of metabolic syndrome (MetS) and its
components in patients with AI.
Consecutive patients with AI were enrolled. The presence of DM, AH,
dyslipidemia and obesity was assessed. 1mg- dexamethasone suppression test was
performed to diagnose autonomous cortisol secretin (ACS). DNA samples were
genotyped for polymorphisms BclI, N363S and ER22/23EK.
There were 103 patients (M 29.1%, aged 59.17 ±10.31yrs). 69.9% pts had AH,
14.6% DM, 46.6% dyslipidaemia and 74.8% were obese. MetS was diagnosed in 57.3%
pts. ACS was found in 50.5% pts. In pts with AI polymorphism N363S was
overrepresented (χ 2=12.05, p<0.001). The frequency of BclI and ER22/23 was similar
as in the control population (χ 2=0.48, p=0.48 and χ 2=0.01, p=0.93, respectively). We
found no differences in comorbidities nor in hormonal status between wild type and
polymorphism carriers.
In AI patients, GR polymorphisms BclI, N363S and ER22/23EK were not
associated with the risk of MetS nor its components: AH, DM, obesity, and
dyslipidaemia.

• Keywords: polimorfizmi gena za glukokortikoidni receptor; BclI; N363S; ER22/23EK; incidentalom nadbubrežne žlijezde; metabolički sindrom; autonomna sekrecija kortizola
• Keywords (english): glucocorticoid receptor gene polymorphism; BclI; N363S; ER22/23EK; adrenal incidentaloma; metabolic syndrome; autonomous cortisol secretion
• Language: croatian
• URN:NBN: urn:nbn:hr:105:661897
• Study programme: Title: Biomedicine and Health Sciences; Study programme type: university; Study level: postgraduate; Academic / professional title: doktor/doktorica znanosti, područje biomedicine i zdravstvo (doktor/doktorica znanosti, područje biomedicine i zdravstvo)
• Type of resource: Text
• Extent: 90 str.
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-05-17 08:15:40