A Polymorphism of the ORAI1 Gene is Associated With the Risk and Recurrence of Calcium Nephrolithiasis

Abstract

To our knowledge this is the first study identifying the novel polymorphisms of the ORAI1 gene, which may predispose to the risk of calcium nephrolithiasis and disease recurrence.

Cardiovascular Lesions of Kawasaki Disease: From Genetic Study to Clinical Management

“…A single missense mutation in ORAI1 was found in patients with severe combined immune deficiency syndrome. In 2011, genetic polymorphisms of ORAI1 were reported to associate with the risk and recurrence of calcium nephrolithiasis (130) and HLA-B27-positive AS (131). In the KD study, no significant association between OARI1 genotypes ORAI1 and KD clinical parameters (such as CAL formation or IVIG treatment responses) was found.…”

Store-Operated Ca2+ Entry

“…The localized phenotype found restricted to certain tissues contrast to the ubiquitous expression of Orai1 or STIM1, suggesting compensation mechanisms in the unaffected tissues, presumably by their homologues Orai2, Orai3 and STIM2 [ 176,243,244 ] . In human, other studies found strong correlation between presence of certain single nucleotide polymorphisms (rs12313273) in Orai1 alleles and risk or recurrence of stone generation in kidney, referred to as calcium nephrolithiasis [ 247 ] . Diseases associated to absence of Orai2, Orai3 or STIM2 function have not been identifi ed in human yet.…”

Genetic polymorphisms in Kawasaki disease

“…Furthermore, this mutation in ORAI1 has been shown to cause dysfunctions in Ca 2+ release-activated Ca 2+ (CRAC) channels and impairs the immune system [67] . In 2011, a genetic polymorphism of ORAI1 was reported to be associated with the risk and recurrence of calcium nephrolithiasis [68] . In the study of Kawasaki disease, no significant association between genotype and allele frequency of the five Table 2.…”