ArticleBMC medical genetics2014
A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Vitamin D receptor gene polymorphisms and susceptibility to urolithiasis: a meta-regression and meta-analysis.BMC nephrology · 2020Pooled it
- Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family.Urolithiasis · 2024Article
- Skeletal and extraskeletal disorders of biomineralization.Nature reviews. Endocrinology · 2022Review
- Association between intelectin-1 variation and human kidney stone disease in northeastern Thai population.Urolithiasis · 2021Article
- A polymorphism in the 3'-untranslated region of the matrix metallopeptidase 9 gene is associated with susceptibility to idiopathic calcium nephrolithiasis in the Chinese population.The Journal of international medical research · 2020Article
- A novel loss-of-function mutation of PBK associated with human kidney stone disease.Scientific reports · 2020Article
- Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.Urolithiasis · 2019Article
- Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.Medicine · 2018Article
- Loss-of-function mutations of SCN10A encoding NaScientific reports · 2018Article
- The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease.Frontiers in immunology · 2018Article
- The genetic framework for development of nephrolithiasis.Asian journal of urology · 2017Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKidney 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.
methodsA whole genome SNP genotyping by DNA microarray was initially conducted in 101 patients and 105 control subjects. A set of 104 candidate genes reported to be involved in KSD, gathered from public databases and candidate gene association study databases, were evaluated for their variations associated with KSD.
resultsAltogether 82 SNPs distributed within 22 candidate gene regions showed significant differences in SNP allele frequencies between the patient and control groups (P < 0.05). Of these, 4 genes including BGLAP, AHSG, CD44, and HAO1, encoding osteocalcin, fetuin-A, CD44-molecule and glycolate oxidase 1, respectively, were further assessed for their associations with the disease because they carried high proportion of SNPs with statistical differences of allele frequencies between the patient and control groups within the gene. The total of 26 SNPs showed significant differences of allele frequencies between the patient and control groups and haplotypes associated with disease risk were identified. The SNP rs759330 located 144 bp downstream of BGLAP where it is a predicted microRNA binding site at 3'UTR of PAQR6 - a gene encoding progestin and adipoQ receptor family member VI, was genotyped in 216 patients and 216 control subjects and found to have significant differences in its genotype and allele frequencies (P = 0.0007, OR 2.02 and P = 0.0001, OR 2.02, respectively).
conclusionsOur results suggest that these candidate genes are associated with KSD and PAQR6 comes into our view as the most potent candidate since associated SNP rs759330 is located in the miRNA binding site and may affect mRNA expression level.
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