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Analysis of the 206M polymorphic variant of the SLC26A6 gene encoding a Cl^– oxalate transporter in patients with primary hyperparathyroidism

Endocrinology and Diabetology Unit, Department of Medical-Surgical Sciences, University of Milan, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Milan, Italy¹ Endocrine Unit, Department of Medical Sciences, University of Milan, IRCCS Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy² Laboratory of Molecular Biology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy³ Endocrine Surgery, IRCCS Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy⁴ Department of Preventive Medicine, University of Milan, IRCCS Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy

(Correspondence should be addressed to S Corbetta; Email: sabrina.corbetta{at}unimi.it)

Objective: Primary hyperparathyroidism (PHPT) is often complicated by kidney stones. Hypercalciuria and urine oxalate excretion are considered risk factors for urolithiasis in PHPT as well as in idiopathic stone-formers. Recently, the anion-exchanger SLC26A6 has been involved in the oxalate metabolism.

Design and methods: We tested the hypothesis that the 206M polymorphic variant of SLC26A6 gene might contribute to the risk of kidney stones in PHPT. DNA samples from 145 PHPT patients and 129 age- and sex-matched healthy subjects were genotyped.

Results: The homozygous 206V genotype was the most frequent both in PHPT patients and controls (79.3 and 74.4%), while heterozygosity for the 206M allele was detected in 20.0 and 23.3% respectively. The homozygous 206M genotype was extremely rare, occurring in 0.7 and 2.3% of PHPT and healthy subjects respectively. In the PHPT cohort, the prevalence of urolithiasis did not differ between the V/V and V/M+M/M groups and urine oxalate excretions did not correlate with the genotype. Considering the subset of PHPT stone formers (n=74), calciuria was lower in V/M+M/M patients with respect to V/V stone-formers (4.40±1.88 vs 5.92±2.62 mg/kg per 24 h; mean±S.D., P=0.034). Finally, the SLC26A6 206M alleles were significantly related to the presence of hypertension (73.3 vs 47.8%), showing an OR of 4.8.

Conclusions: Though the SLC26A6 206M polymorphism did not correlate with kidney stone development in PHPT patients, PHPT stone-formers harbouring the M allele had a lower hypercalciuria. This observation and the high prevalence of hypertension associated with the 206M polymorphism need further investigation.