The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population

Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, th...

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Published inScientific reports Vol. 9; no. 1; pp. 17296 - 9
Main Authors Chen, Wei-Chiao, Chou, Wan-Hsuan, Chu, Hou-Wei, Huang, Chi-Chen, Liu, Xiao, Chang, Wei-Pin, Chou, Yii-Her, Chang, Wei-Chiao
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 21.11.2019
Nature Publishing Group
Subjects
45/22
45/77
631/208/727/2000
692/4022/1585/273
Adult
Aged
Aged, 80 and over
Alkaline phosphatase
Alkaline Phosphatase - genetics
Biobanks
Calcium
Calcium - metabolism
Calcium-sensing receptors
Case-Control Studies
Creatinine
Female
Fibroblast growth factor receptor 4
Genes
Genetic Predisposition to Disease
Genotype & phenotype
Health insurance
Hospitals
Humanities and Social Sciences
Humans
Hydrogen-Ion Concentration
Kidney Calculi - chemistry
Kidney Calculi - epidemiology
Kidney Calculi - genetics
Kidney Calculi - urine
Kidney stones
Male
Middle Aged
multidisciplinary
Nephrolithiasis
Pathogenesis
Patients
Pharmacy
Polymorphism, Single Nucleotide
Population
Prevalence
Receptors, Calcium-Sensing - genetics
Receptors, Calcium-Sensing - metabolism
RGS Proteins - genetics
Science
Science (multidisciplinary)
Signal Transduction - genetics
Single-nucleotide polymorphism
Taiwan - epidemiology
Uric acid
Urine
Young Adult
Taiwan
Online AccessGet full text
ISSN2045-2322
2045-2322
DOI10.1038/s41598-019-53261-8

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Abstract Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 ( alkaline phosphatase, liver/bone/kidney ( ALPL )) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p  = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 ( regulator of G protein signaling 14 (RGS14) ) have higher susceptibility to nephrolithiasis (OR = 1.91, p  = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 ( calcium-sensing receptor ( CASR )) have lower pH level in urine ( p  = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3 , and FGFR4 . In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
AbstractList Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 ( alkaline phosphatase, liver/bone/kidney ( ALPL )) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p  = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 ( regulator of G protein signaling 14 (RGS14) ) have higher susceptibility to nephrolithiasis (OR = 1.91, p  = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 ( calcium-sensing receptor ( CASR )) have lower pH level in urine ( p  = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3 , and FGFR4 . In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 (alkaline phosphatase, liver/bone/kidney (ALPL)) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 (calcium-sensing receptor (CASR)) have lower pH level in urine (p = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3, and FGFR4. In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 (alkaline phosphatase, liver/bone/kidney (ALPL)) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 (calcium-sensing receptor (CASR)) have lower pH level in urine (p = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3, and FGFR4. In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 (alkaline phosphatase, liver/bone/kidney (ALPL)) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 (calcium-sensing receptor (CASR)) have lower pH level in urine (p = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3, and FGFR4. In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several functional polymorphisms associated with the pathogenesis of nephrolithiasis. However, data on Asian populations are limited. In this study, three candidate polymorphisms were selected from previous studies to investigate the correlations with nephrolithiasis in a Taiwanese population. In total, 454 nephrolithiasis patients were recruited from Kaohsiung Medical University Hospital, with SNP frequency for 1513 subjects of general population from the Taiwan Biobank (TWB) as a genotypic reference. Results revealed that subjects with minor TT genotype at rs1256328 (alkaline phosphatase, liver/bone/kidney (ALPL)) have higher susceptibility to nephrolithiasis (odds ratio (OR) = 2.03, p = 0.0013). In addition, subjects carrying the minor AA genotype at rs12654812 (regulator of G protein signaling 14 (RGS14)) have higher susceptibility to nephrolithiasis (OR = 1.91, p = 0.0017). Among nephrolithiasis patients, subjects with GG at rs7627468 (calcium-sensing receptor (CASR)) have lower pH level in urine (p = 0.0088). Importantly, rs7627468 is associated with the expressions of IQCB1 and EAF2. rs12654812 could influence the expression of RGS14 itself, MXD3, and FGFR4. In summary, this study successfully validated the genetic roles of rs1256328 and rs12654812 in human nephrolithiasis.
ArticleNumber 17296
Author Chen, Wei-Chiao
Chou, Wan-Hsuan
Huang, Chi-Chen
Chu, Hou-Wei
Chang, Wei-Chiao
Liu, Xiao
Chang, Wei-Pin
Chou, Yii-Her
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Snippet Nephrolithiasis is a common disease affecting almost all populations, with an increasing prevalence over the past decades. Previous studies revealed several...
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SubjectTerms 45/22
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Adult
Aged
Aged, 80 and over
Alkaline phosphatase
Alkaline Phosphatase - genetics
Biobanks
Calcium
Calcium - metabolism
Calcium-sensing receptors
Case-Control Studies
Creatinine
Female
Fibroblast growth factor receptor 4
Genes
Genetic Predisposition to Disease
Genotype & phenotype
Health insurance
Hospitals
Humanities and Social Sciences
Humans
Hydrogen-Ion Concentration
Kidney Calculi - chemistry
Kidney Calculi - epidemiology
Kidney Calculi - genetics
Kidney Calculi - urine
Kidney stones
Male
Middle Aged
multidisciplinary
Nephrolithiasis
Pathogenesis
Patients
Pharmacy
Polymorphism, Single Nucleotide
Population
Prevalence
Receptors, Calcium-Sensing - genetics
Receptors, Calcium-Sensing - metabolism
RGS Proteins - genetics
Science
Science (multidisciplinary)
Signal Transduction - genetics
Single-nucleotide polymorphism
Taiwan - epidemiology
Uric acid
Urine
Young Adult
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Title The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population
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