deCODE Genetics/Amgen Inc, Reykjavik, Iceland.
Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Sci Rep. 2021 Feb 18;11(1):4188. doi: 10.1038/s41598-021-82736-w.
Bell's palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4-14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell's palsy (rs9357446-A; P = 6.79 × 10, OR = 1.23; N = 4714, N = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10, OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy.
贝尔氏麻痹是单侧面部瘫痪最常见的原因，定义为特发性和急性无法控制受影响一侧面部肌肉的运动。虽然发病机制尚不清楚，但先前的研究表明与病毒后炎症和由此导致的面神经受压有关。报道的 4-14%的遗传度估计表明病因中有遗传成分，并且已经提出了常染色体显性遗传。在这里，我们报告了一项全基因组关联研究的荟萃分析结果，该研究首次明确发现与贝尔氏麻痹相关的关联(rs9357446-A；P=6.79×10，OR=1.23；N=4714，N=1,011,520)。该变体还增加了椎间盘疾病的风险(P=2.99×10，OR=1.04)，表明部分共同发病机制或真正的多效性。
