The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population

The Takahata study

Tsuneo Konta, Satoshi Takasaki, Kazunobu Ichikawa, Mitsuru Emi, Sayumi Toriyama, Hitoshi Satoh, Ami Ikeda, Kazuko Suzuki, Yusuke Mashima, Yoko Shibata, Tetsu Watanabe, Takeo Kato, Sumio Kawata, Isao Kubota

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Nephronophthisis (NPHP) 4 gene coding nephrocystin-4 is involved in the development of renal tubules and its congenital mutations cause juvenile end-stage renal disease, NPHP. To investigate the association between single-point single-nucleotide polymorphism (SNP) of NPHP4 gene and renal function, we conducted a cross-sectional study in Japanese population. The subjects of this study were non-diabetic general population consisting of 2604 individuals >40 years in Takahata town, Japan. We genotyped 11 SNPs within NPHP4 gene that displayed frequent minor allele frequencies (>0.1) in Japanese general population. Among 11 SNPs in NPHP4 gene, only rs1287637 that induces amino acid substitution (A (Gln)/T (Leu)), located in the acceptor site of exon 21, showed a significant association with estimated glomerular filtration rate (eGFR; T/T: 81.3±15.6 (n=1886), A/T: 82.0±15.5 (n=652) and A/A: 87.4±21.4 ml min -1 per 1.73m 2 (n=66); mean±s.d., P=0.006). This SNP was not in linkage disequilibrium with the surrounding SNPs. The multivariate analysis adjusted with possible confounders showed that the A/T+T/T genotype of rs1287637 was independently associated with reduced renal function (eGFR <90 ml min -1 per 1.73m 2; odds ratio (OR) 1.75, 95% confidence interval (CI) 1.05-2.94, P=0.033). These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.

Original languageEnglish
Pages (from-to)791-795
Number of pages5
JournalJournal of Human Genetics
Volume55
Issue number12
DOIs
Publication statusPublished - 2010 Dec
Externally publishedYes

Fingerprint

Single Nucleotide Polymorphism
Kidney
Population
Genes
Linkage Disequilibrium
Amino Acid Substitution
Glomerular Filtration Rate
Gene Frequency
Chronic Kidney Failure
Exons
Japan
Multivariate Analysis
Cross-Sectional Studies
Odds Ratio
Genotype
Confidence Intervals
Mutation

Keywords

  • general population
  • NPHP4
  • SNPs

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population : The Takahata study. / Konta, Tsuneo; Takasaki, Satoshi; Ichikawa, Kazunobu; Emi, Mitsuru; Toriyama, Sayumi; Satoh, Hitoshi; Ikeda, Ami; Suzuki, Kazuko; Mashima, Yusuke; Shibata, Yoko; Watanabe, Tetsu; Kato, Takeo; Kawata, Sumio; Kubota, Isao.

In: Journal of Human Genetics, Vol. 55, No. 12, 12.2010, p. 791-795.

Research output: Contribution to journalArticle

Konta, T, Takasaki, S, Ichikawa, K, Emi, M, Toriyama, S, Satoh, H, Ikeda, A, Suzuki, K, Mashima, Y, Shibata, Y, Watanabe, T, Kato, T, Kawata, S & Kubota, I 2010, 'The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: The Takahata study', Journal of Human Genetics, vol. 55, no. 12, pp. 791-795. https://doi.org/10.1038/jhg.2010.113
Konta, Tsuneo ; Takasaki, Satoshi ; Ichikawa, Kazunobu ; Emi, Mitsuru ; Toriyama, Sayumi ; Satoh, Hitoshi ; Ikeda, Ami ; Suzuki, Kazuko ; Mashima, Yusuke ; Shibata, Yoko ; Watanabe, Tetsu ; Kato, Takeo ; Kawata, Sumio ; Kubota, Isao. / The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population : The Takahata study. In: Journal of Human Genetics. 2010 ; Vol. 55, No. 12. pp. 791-795.
@article{febd5bce03ab4a58b13d5d59736866ae,
title = "The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: The Takahata study",
abstract = "Nephronophthisis (NPHP) 4 gene coding nephrocystin-4 is involved in the development of renal tubules and its congenital mutations cause juvenile end-stage renal disease, NPHP. To investigate the association between single-point single-nucleotide polymorphism (SNP) of NPHP4 gene and renal function, we conducted a cross-sectional study in Japanese population. The subjects of this study were non-diabetic general population consisting of 2604 individuals >40 years in Takahata town, Japan. We genotyped 11 SNPs within NPHP4 gene that displayed frequent minor allele frequencies (>0.1) in Japanese general population. Among 11 SNPs in NPHP4 gene, only rs1287637 that induces amino acid substitution (A (Gln)/T (Leu)), located in the acceptor site of exon 21, showed a significant association with estimated glomerular filtration rate (eGFR; T/T: 81.3±15.6 (n=1886), A/T: 82.0±15.5 (n=652) and A/A: 87.4±21.4 ml min -1 per 1.73m 2 (n=66); mean±s.d., P=0.006). This SNP was not in linkage disequilibrium with the surrounding SNPs. The multivariate analysis adjusted with possible confounders showed that the A/T+T/T genotype of rs1287637 was independently associated with reduced renal function (eGFR <90 ml min -1 per 1.73m 2; odds ratio (OR) 1.75, 95{\%} confidence interval (CI) 1.05-2.94, P=0.033). These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.",
keywords = "general population, NPHP4, SNPs",
author = "Tsuneo Konta and Satoshi Takasaki and Kazunobu Ichikawa and Mitsuru Emi and Sayumi Toriyama and Hitoshi Satoh and Ami Ikeda and Kazuko Suzuki and Yusuke Mashima and Yoko Shibata and Tetsu Watanabe and Takeo Kato and Sumio Kawata and Isao Kubota",
year = "2010",
month = "12",
doi = "10.1038/jhg.2010.113",
language = "English",
volume = "55",
pages = "791--795",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "12",

}

TY - JOUR

T1 - The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population

T2 - The Takahata study

AU - Konta, Tsuneo

AU - Takasaki, Satoshi

AU - Ichikawa, Kazunobu

AU - Emi, Mitsuru

AU - Toriyama, Sayumi

AU - Satoh, Hitoshi

AU - Ikeda, Ami

AU - Suzuki, Kazuko

AU - Mashima, Yusuke

AU - Shibata, Yoko

AU - Watanabe, Tetsu

AU - Kato, Takeo

AU - Kawata, Sumio

AU - Kubota, Isao

PY - 2010/12

Y1 - 2010/12

N2 - Nephronophthisis (NPHP) 4 gene coding nephrocystin-4 is involved in the development of renal tubules and its congenital mutations cause juvenile end-stage renal disease, NPHP. To investigate the association between single-point single-nucleotide polymorphism (SNP) of NPHP4 gene and renal function, we conducted a cross-sectional study in Japanese population. The subjects of this study were non-diabetic general population consisting of 2604 individuals >40 years in Takahata town, Japan. We genotyped 11 SNPs within NPHP4 gene that displayed frequent minor allele frequencies (>0.1) in Japanese general population. Among 11 SNPs in NPHP4 gene, only rs1287637 that induces amino acid substitution (A (Gln)/T (Leu)), located in the acceptor site of exon 21, showed a significant association with estimated glomerular filtration rate (eGFR; T/T: 81.3±15.6 (n=1886), A/T: 82.0±15.5 (n=652) and A/A: 87.4±21.4 ml min -1 per 1.73m 2 (n=66); mean±s.d., P=0.006). This SNP was not in linkage disequilibrium with the surrounding SNPs. The multivariate analysis adjusted with possible confounders showed that the A/T+T/T genotype of rs1287637 was independently associated with reduced renal function (eGFR <90 ml min -1 per 1.73m 2; odds ratio (OR) 1.75, 95% confidence interval (CI) 1.05-2.94, P=0.033). These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.

AB - Nephronophthisis (NPHP) 4 gene coding nephrocystin-4 is involved in the development of renal tubules and its congenital mutations cause juvenile end-stage renal disease, NPHP. To investigate the association between single-point single-nucleotide polymorphism (SNP) of NPHP4 gene and renal function, we conducted a cross-sectional study in Japanese population. The subjects of this study were non-diabetic general population consisting of 2604 individuals >40 years in Takahata town, Japan. We genotyped 11 SNPs within NPHP4 gene that displayed frequent minor allele frequencies (>0.1) in Japanese general population. Among 11 SNPs in NPHP4 gene, only rs1287637 that induces amino acid substitution (A (Gln)/T (Leu)), located in the acceptor site of exon 21, showed a significant association with estimated glomerular filtration rate (eGFR; T/T: 81.3±15.6 (n=1886), A/T: 82.0±15.5 (n=652) and A/A: 87.4±21.4 ml min -1 per 1.73m 2 (n=66); mean±s.d., P=0.006). This SNP was not in linkage disequilibrium with the surrounding SNPs. The multivariate analysis adjusted with possible confounders showed that the A/T+T/T genotype of rs1287637 was independently associated with reduced renal function (eGFR <90 ml min -1 per 1.73m 2; odds ratio (OR) 1.75, 95% confidence interval (CI) 1.05-2.94, P=0.033). These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.

KW - general population

KW - NPHP4

KW - SNPs

UR - http://www.scopus.com/inward/record.url?scp=78650562897&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78650562897&partnerID=8YFLogxK

U2 - 10.1038/jhg.2010.113

DO - 10.1038/jhg.2010.113

M3 - Article

VL - 55

SP - 791

EP - 795

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 12

ER -