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评估甲状旁腺功能亢进与血细胞计数和生化指标之间的因果关系:一项孟德尔随机化研究。

Assessing causal associations of hyperparathyroidism with blood counts and biochemical indicators: a Mendelian randomization study.

机构信息

School of Basic Medicine, Changsha Medical University, Changsha, China.

The Hunan Provincial Key Laboratory of the TCM Agricultural Biogenomics, Changsha Medical University, Changsha, China.

出版信息

Front Endocrinol (Lausanne). 2023 Dec 11;14:1295040. doi: 10.3389/fendo.2023.1295040. eCollection 2023.

Abstract

BACKGROUND

The existing literature on the relationship of hyperparathyroidism with both blood counts and biochemical indicators primarily comprises observational studies, which have produced inconsistent findings. This study aimed to evaluate the causal relationship between hyperparathyroidism and blood counts and biochemical indicators.

METHODS

Mendelian randomization (MR) analyses were conducted to investigate the associations between hyperparathyroidism and the identified 55 blood counts and biochemical indicators. The genome-wide association study (GWAS) for hyperparathyroidism data was obtained from FinnGen, while the GWASs for the blood counts and biochemical indicators were sourced from the UK Biobank (UKBB).

RESULTS

The MR analysis using the inverse-variance weighted (IVW) method revealed potential causality between genetically predicted hyperparathyroidism and seven out of 55 blood counts and biochemical indicators. These markers include "Platelet count" (Beta = -0.041; 95% CI: -0.066, -0.016; = 0.001), "Platelet distribution width (PDW)" (Beta = 0.031; 95% CI: 0.006, 0.056; = 0.016), "Mean platelet volume (MPV)" (Beta = 0.043; 95% CI: 0.010, 0.076; = 0.011), "Vitamin D" (Beta = -0.038; 95% CI: -0.063, -0.013; = 0.003), "Calcium (Ca)" (Beta = 0.266; 95% CI: 0.022, 0.509; = 0.033), "Phosphate" (Beta = -0.114; 95% CI: -0.214, -0.014; = 0.025), and "Alkaline phosphatase (ALP)" (Beta = 0.030; 95% CI: 0.010, 0.049; = 0.003).

CONCLUSION

The findings of our study revealed a suggestive causal relationship between hyperparathyroidism and blood cell count as well as biochemical markers. This presents a novel perspective for further investigating the etiology and pathological mechanisms underlying hyperparathyroidism.

摘要

背景

目前关于甲状旁腺功能亢进症与血细胞计数和生化指标关系的文献主要为观察性研究,这些研究结果并不一致。本研究旨在评估甲状旁腺功能亢进症与血细胞计数和生化指标之间的因果关系。

方法

采用孟德尔随机化(MR)分析探讨甲状旁腺功能亢进症与已确定的 55 项血细胞计数和生化指标之间的关联。甲状旁腺功能亢进症的全基因组关联研究(GWAS)数据来自 FinnGen,血细胞计数和生化指标的 GWAS 数据来自 UK Biobank(UKBB)。

结果

采用逆方差加权(IVW)法的 MR 分析显示,遗传预测的甲状旁腺功能亢进症与 55 项血细胞计数和生化指标中的 7 项之间存在潜在因果关系。这些标志物包括“血小板计数”(Beta = -0.041;95% CI:-0.066,-0.016; = 0.001)、“血小板分布宽度(PDW)”(Beta = 0.031;95% CI:0.006,0.056; = 0.016)、“平均血小板体积(MPV)”(Beta = 0.043;95% CI:0.010,0.076; = 0.011)、“维生素 D”(Beta = -0.038;95% CI:-0.063,-0.013; = 0.003)、“钙(Ca)”(Beta = 0.266;95% CI:0.022,0.509; = 0.033)、“磷酸盐”(Beta = -0.114;95% CI:-0.214,-0.014; = 0.025)和“碱性磷酸酶(ALP)”(Beta = 0.030;95% CI:0.010,0.049; = 0.003)。

结论

本研究结果提示甲状旁腺功能亢进症与血细胞计数和生化标志物之间存在因果关系。这为进一步研究甲状旁腺功能亢进症的病因和病理机制提供了新的视角。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0050/10752421/460874e91b8e/fendo-14-1295040-g001.jpg

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