Inching toward a Greater Understanding of Genetic Hypercalciuria: The Role of Claudins
| Autor: | John C. Lieske, Ronak Jagdeep Shah |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty endocrine system diseases Epidemiology Population Hypercalciuria 030232 urology & nephrology Critical Care and Intensive Care Medicine Genetic therapy 03 medical and health sciences 0302 clinical medicine Health care medicine Humans Claudin education Transplantation education.field_of_study Polymorphism Genetic business.industry urogenital system Editorials Original Articles medicine.disease Human genetics 030104 developmental biology Nephrology Claudins Calcium business |
| Zdroj: | Clinical journal of the American Society of Nephrology : CJASN. 13(10) |
| ISSN: | 1555-905X |
| Popis: | BACKGROUND AND OBJECTIVES: Claudin-16 and -19 are proteins forming pores for the paracellular reabsorption of divalent cations in the ascending limb of Henle loop; conversely, claudin-14 decreases ion permeability of these pores. Single-nucleotide polymorphisms in gene coding for claudin-14 were associated with kidney stones and calcium excretion. This study aimed to explore the association of claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms with calcium excretion. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We performed a retrospective observational study of 393 patients with hypertension who were naïve to antihypertensive drugs, in whom we measured 24-hour urine calcium excretion; history of kidney stones was ascertained by interview; 370 of these patients underwent an intravenous 0.9% sodium chloride infusion (2 L in 2 hours) to evaluate the response of calcium excretion in three different 2-hour urine samples collected before, during, and after saline infusion. Genotypes of claudin-14, claudin-16, and claudin-19 were obtained from data of a previous genome-wide association study in the same patients. RESULTS: Thirty-one single-nucleotide polymorphisms of the 3′ region of the claudin-14 gene were significantly associated with 24-hour calcium excretion and calcium excretion after saline infusion. The most significant associated single-nucleotide polymorphism was rs219755 (24-hour calcium excretion in GG, 225±124 mg/24 hours; 24-hour calcium excretion in GA, 194±100 mg/24 hours; 24-hour calcium excretion in AA, 124±73 mg/24 hours; P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|