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 |
| 巻 | 19 |
| 発行部数 | 10 |
| DOI | |
| 出版物ステータス | Published - 18-02-2010 |
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All Science Journal Classification (ASJC) codes
- Molecular Biology
- Genetics
- Genetics(clinical)
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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
TY - JOUR
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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U2 - 10.1093/hmg/ddq080
DO - 10.1093/hmg/ddq080
M3 - Article
C2 - 20172861
AN - SCOPUS:77952473808
VL - 19
SP - 2079
EP - 2085
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 10
M1 - ddq080
ER -