Searchable abstracts of presentations at key conferences in endocrinology

ea0014p257 | (1) | ECE2007

Rare polimorphism in the intron of human Agouti- related protein gene is associated with obesity

Kapa Ivo , Kalnina Ineta , Pirags Valdis , Schioth Helgi , Klovins Janis

Agouti related protein (AGRP) as a endogenous antagonist of melanocortin 4 receptor plays an important role in regulation of food intake and energy balance being one of the most potent orexigenic factors. We have determined complete sequence of AGRP gene and upstream promoter region in 100 patients with severe obesity (BMI>35). Three previously described polymorphisms were identified: silent mutation G538A in second exon, non-synonymous mutation G772A (rs5030980) and C662T...

ea0016p341 | Endocrine tumours | ECE2008

Association of genetic variants of somatostatin receptor 5 with acromegaly

Klovins Janis , Kapa Ivo , Balcere Inga , Ciganova Darja , Nikitina-Zake Liene , Schioth Helgi , Pirags Valdis

Full gene coding sequence of somatostatin receptor 5 and 2000 bp of upstream region was estimated using direct sequencing in 28 patients with acromegaly and 97 controls. Total 19 polymorphisms were identified (SNP1-19) and possible haplotypes were reconstructed. From all polymorphisms found silent substitution SNP15 was significantly associated with acromegaly as compared with control group (P=0.005). Another substitution SNP17 involves the amino acid change from prolin...