Dmitrzak-Weglarz Monika, Szczepankiewicz Aleksandra, Slopien Agnieszka, Tyszkiewicz Marta, Maciukiewicz Malgorzata, Zaremba Dorota, Twarowska-Hauser Joanna
Department of Psychiatric Genetics, Center of Medical Biology, Poznan University of Medical Sciences, Rokietnicka St. 8, 60-806 Poznan, Poland,
Psychiatr Danub. 2016 Mar;28(1):51-7.
Disturbances in stress response mechanisms and hypothalamic-pituitary-adrenal axis (HPA) functioning are considered important factors involved in the pathophysiology of anorexia nervosa (AN). Thus, genetic variations in the end effector of HPA - glucocorticoid receptor gene and relationships to stressful life events (SLE) may be connected to a higher risk of illness. The aim of the study was examining the association between glucocorticoid receptor gene (NR3C1) polymorphisms and risk factors among stressful life events in AN patients.
This study comprised 256 patients with AN and 167 control subjects. The questionnaires examining brief history of the mother's pregnancy and long-acting stress factors, as well as life events checklist to assess stressful life events during the 6 months prior to hospitalization were used. The eight common SNPs (rs6198, rs6191, rs6196, rs258813, rs33388, rs41423247, rs56149945 and rs10052957) of NR3C1 gene were genotyped.
The association of five polymorphisms (rs6191, rs258813, rs33388, rs41423247 and rs10052957) and one complex allele (TCAGT) of NR3C1 gene with increased risk of AN were found. However, no significant correlations between early, long-acting and predicting hospitalization SLE and any of the analyzed polymorphisms were observed.
The results confirm that the NR3C1 gene is associated with AN risk regardless of the type of stressful triggering factors.
