ECE2011 Poster Presentations Bone/calcium/Vitamin D (58 abstracts)
rs219780 SNP of CLDN14 gene is not associated with kidney stones, fractures or bone mineral density in primary hyperparathyroidism
M Piedra 1 , A Berja 1 , M T García-Unzueta 1 , M T Gutiérrez-Hierro 1 , N García-Llama 1 , C Rentería 1 , B A Lavín 1 & J A Amado 1,
1University Hospital ‘Marqués de Valdecilla’, Santander, Spain; 2University of Cantabria, Santander, Spain.
Background: CLDN14 gene encodes a protein involved in regulation of paracellular permeability or ion transport at epithelial tight junctions as in the nephron. C allele of the rs219780 SNP of CLDN14 gene has been associated with high levels of PTH and with low bone mineral density (BMD) in women. Our aim is to study the relationship between rs219780 SNP of CLDN14 and fractures, renal lithiasis and bone mineral density in patients with primary hyperparathyroidism (PHPT).
Methods: We enrolled 298 Caucasian patients with PHPT and 328 healthy volunteers in a cross-sectional study. We analyzed anthropometric data, history of fractures or renal lithiasis, biochemical determinants including markers for bone remodelling, BMD measurements in the lumbar spine, total hip, femoral neck and distal radius, and genotyping for the SNPs to be studied.
Results: We did not find any difference in the frequency of fractures or renal lithiasis between the genotype groups in PHPT patients. We found a non-significant trend towards lower ionic calcium, PTH, bone alkaline phosphatase, β Crosslaps and osteocalcin levels in TT genotype group than in TC or CC groups in patients with PHPT. There was a non-significant trend towards lower levels of BMD in the TT genotype group in the three skeletal sites studied, especially in lumbar spine in the control subjects, but there was no difference in patients with PHPT.
Conclusions: rs219780 SNP of CLDN14 does not appear to influence the expression of primary hyperparathyroidism in bone or kidney in contrast with previous studies in general population.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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