Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count

Yukinori Okada, Yoichiro Kamatani, Atsushi Takahashi, Koichi Matsuda, Naoya Hosono, Hiroko Ohmiya, Yataro Daigo, Kazuhiko Yamamoto, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani

研究成果: Article

36 引用 (Scopus)

抄録

Neutrophils are the most abundant subtype of white blood cells (WBCs). Although the regulation of the numbers of neutrophils would have substantial clinical impacts, the studies on the variations associated with neutrophil count had not been performed further. To investigate genetic variations that regulate neutrophil count, we performed a genome-wide association study in 5771 Japanese subjects and a replication study using independent 1894 Japanese subjects. We identified two genetic loci significantly associated with neutrophil count (rs4794822 in PSMD3-CSF3 at 17q21.1, P = 6.3 × 10-10; rs2072910 in PLCB4 at 20p12, P = 3.1 × 10-10). As these loci did not indicate significant associations with the counts of the other subtypes of WBCs (lymphocytes, monocytes, eosinophils and basophils), their specific associations with neutrophils were suggested. The combination of the single nucleotide polymorphisms (SNPs) in these two loci explained 1.0% of the total variance of the log-transformed values of the neutrophil count in our study populations. The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). In conclusion, our study would demonstrate the significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count.

元の言語English
記事番号ddq080
ページ(範囲)2079-2085
ページ数7
ジャーナルHuman molecular genetics
19
発行部数10
DOI
出版物ステータスPublished - 18-02-2010

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Neutrophils
Alleles
Single Nucleotide Polymorphism
Leukocytes
Genetic Loci
Basophils
Genome-Wide Association Study
Eosinophils
Monocytes
Lymphocytes
Confidence Intervals
Population

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

これを引用

Okada, Y., Kamatani, Y., Takahashi, A., Matsuda, K., Hosono, N., Ohmiya, H., ... Kamatani, N. (2010). Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. Human molecular genetics, 19(10), 2079-2085. [ddq080]. https://doi.org/10.1093/hmg/ddq080
Okada, Yukinori ; Kamatani, Yoichiro ; Takahashi, Atsushi ; Matsuda, Koichi ; Hosono, Naoya ; Ohmiya, Hiroko ; Daigo, Yataro ; Yamamoto, Kazuhiko ; Kubo, Michiaki ; Nakamura, Yusuke ; Kamatani, Naoyuki. / Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. :: Human molecular genetics. 2010 ; 巻 19, 番号 10. pp. 2079-2085.
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abstract = "Neutrophils are the most abundant subtype of white blood cells (WBCs). Although the regulation of the numbers of neutrophils would have substantial clinical impacts, the studies on the variations associated with neutrophil count had not been performed further. To investigate genetic variations that regulate neutrophil count, we performed a genome-wide association study in 5771 Japanese subjects and a replication study using independent 1894 Japanese subjects. We identified two genetic loci significantly associated with neutrophil count (rs4794822 in PSMD3-CSF3 at 17q21.1, P = 6.3 × 10-10; rs2072910 in PLCB4 at 20p12, P = 3.1 × 10-10). As these loci did not indicate significant associations with the counts of the other subtypes of WBCs (lymphocytes, monocytes, eosinophils and basophils), their specific associations with neutrophils were suggested. The combination of the single nucleotide polymorphisms (SNPs) in these two loci explained 1.0{\%} of the total variance of the log-transformed values of the neutrophil count in our study populations. The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95{\%} confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). In conclusion, our study would demonstrate the significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count.",
author = "Yukinori Okada and Yoichiro Kamatani and Atsushi Takahashi and Koichi Matsuda and Naoya Hosono and Hiroko Ohmiya and Yataro Daigo and Kazuhiko Yamamoto and Michiaki Kubo and Yusuke Nakamura and Naoyuki Kamatani",
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Okada, Y, Kamatani, Y, Takahashi, A, Matsuda, K, Hosono, N, Ohmiya, H, Daigo, Y, Yamamoto, K, Kubo, M, Nakamura, Y & Kamatani, N 2010, 'Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count', Human molecular genetics, 巻. 19, 番号 10, ddq080, pp. 2079-2085. https://doi.org/10.1093/hmg/ddq080

Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. / Okada, Yukinori; Kamatani, Yoichiro; Takahashi, Atsushi; Matsuda, Koichi; Hosono, Naoya; Ohmiya, Hiroko; Daigo, Yataro; Yamamoto, Kazuhiko; Kubo, Michiaki; Nakamura, Yusuke; Kamatani, Naoyuki.

:: Human molecular genetics, 巻 19, 番号 10, ddq080, 18.02.2010, p. 2079-2085.

研究成果: Article

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T1 - Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count

AU - Okada, Yukinori

AU - Kamatani, Yoichiro

AU - Takahashi, Atsushi

AU - Matsuda, Koichi

AU - Hosono, Naoya

AU - Ohmiya, Hiroko

AU - Daigo, Yataro

AU - Yamamoto, Kazuhiko

AU - Kubo, Michiaki

AU - Nakamura, Yusuke

AU - Kamatani, Naoyuki

PY - 2010/2/18

Y1 - 2010/2/18

N2 - Neutrophils are the most abundant subtype of white blood cells (WBCs). Although the regulation of the numbers of neutrophils would have substantial clinical impacts, the studies on the variations associated with neutrophil count had not been performed further. To investigate genetic variations that regulate neutrophil count, we performed a genome-wide association study in 5771 Japanese subjects and a replication study using independent 1894 Japanese subjects. We identified two genetic loci significantly associated with neutrophil count (rs4794822 in PSMD3-CSF3 at 17q21.1, P = 6.3 × 10-10; rs2072910 in PLCB4 at 20p12, P = 3.1 × 10-10). As these loci did not indicate significant associations with the counts of the other subtypes of WBCs (lymphocytes, monocytes, eosinophils and basophils), their specific associations with neutrophils were suggested. The combination of the single nucleotide polymorphisms (SNPs) in these two loci explained 1.0% of the total variance of the log-transformed values of the neutrophil count in our study populations. The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). In conclusion, our study would demonstrate the significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count.

AB - Neutrophils are the most abundant subtype of white blood cells (WBCs). Although the regulation of the numbers of neutrophils would have substantial clinical impacts, the studies on the variations associated with neutrophil count had not been performed further. To investigate genetic variations that regulate neutrophil count, we performed a genome-wide association study in 5771 Japanese subjects and a replication study using independent 1894 Japanese subjects. We identified two genetic loci significantly associated with neutrophil count (rs4794822 in PSMD3-CSF3 at 17q21.1, P = 6.3 × 10-10; rs2072910 in PLCB4 at 20p12, P = 3.1 × 10-10). As these loci did not indicate significant associations with the counts of the other subtypes of WBCs (lymphocytes, monocytes, eosinophils and basophils), their specific associations with neutrophils were suggested. The combination of the single nucleotide polymorphisms (SNPs) in these two loci explained 1.0% of the total variance of the log-transformed values of the neutrophil count in our study populations. The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910). In conclusion, our study would demonstrate the significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count.

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Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H その他. Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. Human molecular genetics. 2010 2 18;19(10):2079-2085. ddq080. https://doi.org/10.1093/hmg/ddq080