GENOMES AND GENETICSVolume 15, No. 01, Month JANUARY, Year 2022, Pages 1 - 15
Genetic heterogeneity of kidney stone disease in northeastern thai patients
Choochai nettuwakul, Oranud Praditsap, Nunghathai Sawasdee, Thanakorn Pungsrinont, Suchai Sritippayawan, Nawara Faiza Ahsan, Pa-thai Yenchitsomanus, Nanyawan Rungroj
Abstract Download PDFKidney stone disease (KSD) is a health problem worldwide, with a reportedly increasing prevalence and incidence across the world. In Thailand, KSD is common in the north (N) and northeastern (NE) parts of the country, with the NE region accounting for more than 40% of total patients. Calcium stones comprise 80% of all kidney stones, making them the most prevalent globally, and also in Thailand. Generally, KSD is often associated with metabolic abnormalities of the urinary solute concentration or decreased urinary solubility, including hypercalciuria, hyperoxaluria, hypocitraturia, hyperuricosuria, cystinuria, low urinary volume, and defects in urinary acidification. The etiology of KSD is poorly understood but it is known that both genetic and environmental factors are involved and the disease is heterogeneous, ranging from monogenic defects to complex interactions between genetic and environmental factors. The reported studies of KSD using genetic and genomic approaches have revealed that ion transporters and channels, the calcium-sensing receptor signaling pathway, and the metabolic pathways of vitamin D, oxalate, cysteine, purines, and uric acid play important roles in causing KSD. In Thailand, studies of KSD employing different genetic and genomic approaches i.e. candidate gene analysis, genome-wide association studies (GWAS), linkage analysis, and next-generation sequencing, have identified genetic alterations in F2, PAQR6, SLC13A2, ITLN1, SCN10A, and PBK genes. These have provided insights into both the common and rare genetic variants and genetic heterogeneity of KSD in Thai patients. The identification of genetic defects and molecular pathways causing KSD in the Thai cohort contribute to the increase of our understanding of the pathogenesis of KSD.
Kidney stone disease; single nucleotide polymorphism; exome sequencing; genetic heterogeneity; Northeast Thailand