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遗传变异对沙特人状细胞病的血栓栓塞风险的影响

Mohammad A Alshabeeb^1,2, Deemah Alwadaani^2,3, Farjah H Al Qahtani⁴

¹King Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia.

|October 28, 2023

概括

这项全基因组研究在状细胞病 (SCD) 患者中发现了与血栓栓塞事件 (TEE) 相关的新型遗传标记. 需要进一步的研究来复制这些发现,并了解它们对SCD中TEE风险的临床影响.

科学领域:

遗传学遗传学是一个
血液学血液学血液学
基因组学就是基因组学.

背景情况:

状细胞疾病 (SCD) 是一种具有复杂表型的遗传疾病.
患有SCD的患者患有血栓栓塞事件 (TEE) 的风险增加.
以前的研究表明,候选基因多态性是各种条件下TEE的风险因素.

研究的目的:

在沙特成年状细胞病患者中研究与TEE相关的遗传多态性.
识别导致SCD中TEE风险的新型遗传位点.
基因型特定的候选基因以前与TEE相关.

主要方法:

进行了一项多中心全基因组关联研究 (GWAS).
包括65名患有TEE的成年SCD患者和285名没有TEE的对照.
基因型识别使用了10 × Affymetrix Axiom数组,统计分析包括费舍尔的精确测试和单元型分析.

主要成果:

在MTHFR中没有发现rs1801133与SCD中TEE的关联.
对于FVL和PRT变异的等位基因频率太低,无法进行有意义的分析.
GWAS发现了七个新的全基因组显著信号 (p < 5 × 10−8),包括11号,20号和9号染色体的变异.
已知基因中的34个额外的SNP与较低的显著性值 (p < 5 × 10−6) 的TEE相关.
在嗅觉受体家族51基因中发现了7种变异,在家族52基因中发现了5种变异.
之前报告的OR51B5中rs5006884-A与胎儿血红蛋白 (HbF) 水平之间的关联得到证实,TEE病例中HbF较低.
哈普洛型分析揭示了两个重要的常见的哈普洛型,对TEE风险产生了相反的影响.

结论:

在SCD中发现了TEE的全基因组新关联,包括OLFM5P和OR51B5.5中的异构变异.
已知基因中的34个其他变异显示出不那么显著的关联.
两种常见的单元类型对TEE风险产生了矛盾的影响.
需要进一步的复制研究来验证这些发现.

关键词:

在GWAS中,GWAS就是GWAS.沙特阿拉伯人是沙特人.单质类型的单质类型嗅觉受体是一种嗅觉受体.状细胞病 (SCD) 是一种状细胞疾病.血栓塞栓事件 (TEE) 是指发生的

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