Publications by authors named "Duangporn Chuawattana"

Human kidney stone disease (KSD) causes significant morbidity and public health burden worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defects to complex interaction between genetic and environmental factors. However, the genetic defects causing KSD in the majority of affected families are still unknown.

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Background: Kidney stone disease (KSD) is a complex disorder with unknown etiology in majority of the patients. Genetic and environmental factors may cause the disease. In the present study, we used DNA microarray to genotype single nucleotide polymorphisms (SNP) and performed candidate gene association analysis to determine genetic variations associated with the disease.

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We previously reported the association between prothrombin (F2), encoding a stone inhibitor protein - urinary prothrombin fragment 1 (UPTF1), and the risk of kidney stone disease in Northeastern Thai patients. To identify specific F2 variation responsible for the kidney stone risk, we conducted sequencing analysis of this gene in a group of the patients with kidney stone disease. Five intronic SNPs (rs2070850, rs2070852, rs1799867, rs2282687, and rs3136516) and one exonic non-synonymous single nucleotide polymorphism (nsSNP; rs5896) were found.

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Article Synopsis
  • - The study aimed to investigate genetic factors linked to kidney stone disease in patients from Northeastern Thailand by analyzing 67 single nucleotide polymorphisms (SNPs) across 8 genes related to stone inhibition proteins.
  • - Researchers found that certain SNPs within the F2 gene had differing frequencies between kidney stone patients and control subjects, with two specific haplotypes showing contrasting associations with disease risk, particularly among females.
  • - The findings suggest a significant connection between genetic variations in the F2 gene and the likelihood of developing kidney stones in Northeastern Thai women, highlighting the importance of genetic research in understanding this health issue.
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Genetic factor may play a role in the pathogenesis of kidney stone that is found in the northeastern (NE) Thai population. Herein, we report initial evidence suggesting genetic contribution to the disease in this population. We examined 1,034 subjects including 135 patients with kidney stone, 551 family members, and 348 villagers by radiography of kidney-ureter-bladder (KUB) and other methods, and also analyzed stones removed by surgical operations.

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