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全基因组关联研究初步筛选中国人群血液流变学指标新易感基因

Preliminary Study of Genome-Wide Association Identified Novel Susceptibility Genes for Hemorheological Indexes in a Chinese Population.

作者信息

Sun Yuxiao, Cheng Zhaoyun, Guo Zhiping, Dai Guoyou, Li Yongqiang, Chen Yan, Xie Ruigang, Wang Xianqing, Cui Mingxia, Lu Guoqing, Wang Aifeng, Gao Chuanyu

机构信息

Department of Cardiology, Henan Provincial People's Hospital, Zhengzhou, China.

FuWai Central China Cardiovascular Hospital, Zhengzhou, China.

出版信息

Transfus Med Hemother. 2022 Jul 5;49(6):346-357. doi: 10.1159/000524849. eCollection 2022 Dec.

Abstract

BACKGROUND

Genome-wide association studies for various hemorheological characteristics have not been reported. We aimed to identify genetic loci associated with hemorheological indexes in a cohort of healthy Chinese Han individuals.

METHODS

Genotyping was performed using Applied Biosystems Axiom™ Precision Medicine Diversity Array in 838 individuals, and 6,423,076 single nucleotide polymorphisms were available for genotyping. The relations were examined in an additive genetic model using mixed linear regression and combined with identical by descent matrix.

RESULTS

We identified 38 genetic loci ( < 5 × 10) related to hemorheological traits. In which, rs28371438 was related to the levels of nd30 ( = 8.58 × 10), nd300 ( = 1.89 × 10), erythrocyte rigidity ( = 1.29 × 10), assigned viscosity ( = 6.20 × 10) and whole blood high cut relative ( = 7.30 × 10). The association of rs4689231 for nd30 ( = 3.85 × 10) and nd300 ( = 2.94 × 10) and -LINC01541 rs11661911 for erythrocyte rigidity ( = 9.93 × 10) and whole blood high cut relative ( = 2.09 × 10) was found. rs1297329 was associated with erythrocyte rigidity ( = 1.81 × 10) and erythrocyte deformation ( = 1.14 × 10). Moreover, the association of rs3985087 and rs9966987 for fibrinogen ( = 1.31 × 10 and = 4.29 × 10) and plasma viscosity ( = 1.01 × 10 and = 4.59 × 10) was found.

CONCLUSION

These findings may represent biological candidates for hemorheological indexes and contribute to hemorheological study.

摘要

背景

尚未有关于各种血液流变学特征的全基因组关联研究报道。我们旨在在中国健康汉族人群队列中识别与血液流变学指标相关的基因位点。

方法

使用应用生物系统公司的Axiom™精准医学多样性阵列对838名个体进行基因分型,共有6,423,076个单核苷酸多态性可用于基因分型。采用混合线性回归并结合同源等位基因矩阵,在加性遗传模型中检验两者之间的关系。

结果

我们鉴定出38个与血液流变学特征相关的基因位点(<5×10)。其中,rs28371438与nd30水平(=8.58×10)、nd300水平(=1.89×10)、红细胞刚性(=1.29×10)、指定粘度(=6.20×10)和全血高切相对值(=7.30×10)相关。发现rs4689231与nd30(=3.85×10)和nd300(=2.94×10)相关,-LINC01541 rs11661911与红细胞刚性(=9.93×10)和全血高切相对值(=2.09×10)相关。rs1297329与红细胞刚性(=1.81×10)和红细胞变形(=1.14×10)相关。此外,发现rs3985087和rs9966987与纤维蛋白原(=1.31×10和=4.29×10)及血浆粘度(=1.01×10和=4.59×10)相关。

结论

这些发现可能代表血液流变学指标的生物学候选因素,并有助于血液流变学研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01c2/9768296/6a13b466ed35/tmh-0049-0346-g01.jpg

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