ASSOCIATION OF COL1A1 rs1800012 POLYMORPHISM WITH MORPHOLOGICAL FORMS OF PRIMARY EMPTY SELLA SYNDROME

Abstract

Primary empty sella syndrome (PESS) is a multifactorial condition in which structural weakness of the sellar diaphragm may contribute to herniation of the subarachnoid space into the sella turcica and compression of the pituitary gland. Since type I collagen is an important structural component of connective tissue, genetic variations affecting collagen synthesis may influence the susceptibility of sellar structures to morphological changes. The aim of this study was to evaluate the association between the rs1800012 polymorphism of the COL1A1 gene and primary empty sella syndrome, with particular attention to its morphological forms. The study included 36 patients with PESS and 36 healthy controls. Among the patients, 19 had the complete form and 17 had the forming (partial) form of PESS. The T allele and T/T genotype were more frequent among patients, with the most pronounced differences observed in the complete form. The T allele was detected in 42.1% of alleles in patients with complete PESS versus 18.1% in controls (OR=3.3; 95% CI: 1.40–7.80; p=0.01). The T/T genotype occurred in 26.3% versus 2.8%, respectively (OR=12.5; 95% CI: 1.95–80.24; p=0.01). These findings suggest that the T allele, particularly the T/T genotype of COL1A1 rs1800012, may be associated with genetic susceptibility to the complete morphological form of primary empty sella syndrome.