Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

Abstract EN

Objective.

The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge.

We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.

Design, Patients, and Methods.

52 acromegaly patients (mean age 45.7 ± 1.9 years) and 83 controls (mean age 43.1 ± 2.6 years) were recruited to the study.

VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.

Results.

The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls ( P = 0.034 ).

VDR FokI ff genotype was significantly decreased in acromegaly patients ( P = 0.035 ) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1; P = 0.020 ).

IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype ( P = 0.0049 ).

25(OH)D3 levels were significantly lower in acromegaly patients ( P < 0.001 ).

Conclusions.

Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.