Association of genetic polymorphisms with erythrocyte traits: Verification of SNPs reported in a previous GWAS in a Japanese population
Association of genetic polymorphisms with erythrocyte traits: Verification of SNPs reported in a previous GWAS in a Japanese population
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遗传多态性与红细胞性状的关联：先前 GWAS 在日本人群中报告的 SNP 的验证
DOI：
10.1016/j.gene.2017.11.031
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发表时间：
2018
期刊：
影响因子：
3.5
通讯作者：
Wakai Kenji
中科院分区：
文献类型：
--
作者：
Seiki Toshio;Naito Mariko;Hishida Asahi;Takagi Sahoko;Matsunaga Takashi;Sasakabe Tae;Hattori Yuta;Kawai Sayo;Okada Rieko;Yin Guang;Hamajima Nobuyuki;Wakai Kenji
红细胞计数和红细胞体积是反映贫血在各种疾病中变化的常用血液学指标。然而，到目前为止，只有一项研究涉及日本人群中的红细胞特征相关单核苷酸多态(SNPs)。因为这项研究是在患有各种疾病的患者中进行的，所以我们确认了已报道的普通人群中的相关性。当前研究的参与者来自日本多机构协作队列研究的静冈部分，该研究包括4,971名年龄在35岁至69岁之间的男性和女性，他们是在2006年至2007年间招募的。我们分析了选定的7个SNPs与以下红细胞特征的相关性：红细胞计数、血红蛋白(Hb)和红细胞压积(Ht)水平、平均红细胞体积、平均红细胞血红蛋白和平均红细胞血红蛋白浓度。选择的SNPs的一些次要等位基因对红细胞性状进行了回归。然后，我们将我们的发现与在日本人群中进行的全基因组关联研究的结果进行了比较。我们在日本独立人群中复制了ABOR495828、PDGFRA-KITrs218237、USP49-MED20-BSYL-CCND3rs3218097、C6orf182-CD164 rs11966072、TERTrs2736100和TMPRSS6rs5756504与红细胞性状的关联。此外，我们还发现TERTrs2736100与吸烟习惯之间存在显著的交互作用，影响Hb和Ht水平。
Erythrocyte count and volume are the commonly used hematological indices for anemia that change in various diseases. To date, however, only one study ever exists that addressed erythrocyte trait-associated single nucleotide polymorphisms (SNPs) in a Japanese population. Because that study was performed in patients with various diseases, we confirmed the reported associations in a general population. Participants in the current study were from the Shizuoka component of the Japan Multi-Institutional Collaborative Cohort Study, which included 4971 men and women aged 35 to 69 years who were recruited between 2006 and 2007. We analyzed the association of seven selected SNPs with the following erythrocyte traits: red blood cell count, hemoglobin (Hb) and hematocrit (Ht) levels, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration. The erythrocyte traits were regressed on a number of minor alleles of selected SNPs. Then we compared our findings with those from a genome-wide association study performed in a Japanese population. We replicated the association ofABOrs495828,PDGFRA-KITrs218237,USP49-MED20-BSYL-CCND3rs3218097,C6orf182-CD164rs11966072,TERTrs2736100, andTMPRSS6rs5756504 with erythrocyte traits in our independent Japanese population. In addition, we found a significant interaction betweenTERTrs2736100 and smoking habit that affected Hb and Ht levels.