title: Rs219780 SNP of Claudin 14 Gene is not Related to Clinical Expression in Primary Hyperparathyroidism.
abstract: BACKGROUND
  The CLDN14 gene encodes a protein involved in the regulation of paracellular permeability or ion transport at epithelial tight junctions as in the nephron. The C allele of the rs219780 SNP (single nucleotide polymorphism) of CLDN14 has been associated with renal lithiasis, high levels of parathormone (PTH), and with low bone mineral density (BMD) in healthy women. Our aim is to study the relationship between rs219780 SNP of CLDN14 and renal lithiasis, fractures, and BMD in patients with primary hyperparathyroidism (PHPT).
  
  
  METHODS
  We enrolled 298 Caucasian patients with PHPT and 328 healthy volunteers in a cross-sectional study. We analysed anthropometric data, history of fractures or kidney stones, biochemical parameters including markers for bone remodelling, abdominal ultrasound, and BMD and genotyping for the rs219780 SNP of CLDN14.
  
  
  RESULTS
  We did not find any difference in the frequency of fractures or renal lithiasis between the genotype groups in PHPT patients. Moreover, we did not find any relationship between the T or C alleles and BMD or biochemical parameters.
  
  
  CONCLUSIONS
  rs219780 SNP of CLDN14 does not appear to be a risk factor for the development of PHPT nor does it seem to influence the clinical expression of PHPT.
authors.forename: María
authors.initials: M
authors.lastname: Piedra
authors.forename: Ana
authors.initials: A
authors.lastname: Berja
authors.forename: María Teresa
authors.initials: MT
authors.lastname: García-Unzueta
authors.forename: Laura
authors.initials: L
authors.lastname: Ramos
authors.forename: Carmen
authors.initials: C
authors.lastname: Valero
authors.forename: José Antonio
authors.initials: JA
authors.lastname: Amado
mesh_terms: D000368:Aged; D000483:Alleles; D015415:Biomarkers / Q000097:blood; D015519:Bone Density; D016723:Bone Remodeling; D002118:Calcium / Q000652:urine; D057167:Claudins / Q000235:genetics / Q000502:physiology*; D003430:Cross-Sectional Studies; D005260:Female; D005598:Fractures, Spontaneous / Q000453:epidemiology / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000209:etiology; D049950:Hyperparathyroidism, Primary / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008593:Menopause; D008875:Middle Aged; D053040:Nephrolithiasis / Q000453:epidemiology / Q000235:genetics; D010024:Osteoporosis / Q000453:epidemiology / Q000235:genetics; D010281:Parathyroid Hormone / Q000097:blood; D012307:Risk Factors; D013030:Spain / Q000453:epidemiology
chemical_list: D015415:Biomarkers; D057167:Claudins; D010281:Parathyroid Hormone; D002118:Calcium; C422064:claudin 14