ECE2008 Poster Presentations Endocrine tumours (77 abstracts)
Association of genetic variants of somatostatin receptor 5 with acromegaly
Janis Klovins 1 , Ivo Kapa 1 , Inga Balcere 1 , Darja Ciganova 1 , Liene Nikitina-Zake 1 , Helgi Schioth 3 & Valdis Pirags 2
1Latvian Biomedical Research and Study Center Ratsupites 1, Riga, Latvia; 2Paul Stradins Clinical Hospital, Pilsonu Street 13, Riga LV-1002, Latvia; 3Department of Neuroscience, Uppsala University, Uppsala, Sweden.
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 proline at position 335 to leucine that was less frequent in acromegalic patients compared to controls (P=0.02). Moreover, two patients homozygous for SNP15 were resistant to somatostatin analog sandostatin as characterized by elevated GH and IGF-I levels as well as recurrent surgical removal of adenomas. These data suggest the role of SSTR5 genetic variants in progression of acromegaly as well as possible identification of genetic marker of resistance to somatostatin treatment. Present study has been approved by Latvian Central Committee of Medical Ethics.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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