Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort
Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort
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DOI：
10.1186/s40246-022-00437-5
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发表时间：
2022
期刊：
影响因子：
4.5
通讯作者：
Huifang Shang
中科院分区：
文献类型：
--
作者：
Chunyu Li;Yanbing Hou;Qianqian Wei;Junyu Lin;Qirui Jiang;Tianmi Yang;Yi Xiao;Jingxuan Huang;Yangfan Cheng;Ruwei Ou;Kuncheng Liu;Xueping Chen;Wei Song;Bi Zhao;Ying Wu;Bei Cao;Yongping Chen;Huifang Shang
Abstract. Background. Recently, several rare variants of TP73 were identified as potential disease cause for amyotrophic lateral sclerosis (ALS) in the European population. However, further replication was still necessary, especially in cohorts with different ethnic backgrounds.. Methods. To explore the genetic role of TP73 in ALS in the Asian population, we analyzed the rare protein-coding variants in 2011 patients with ALS and 3298 controls with whole-exome sequencing. Fisher’s exact test was performed between each variant and disease risk, while at gene level over-representation of rare variants in patients was examined with optimized sequence kernel association test.. Results. Totally 24 rare variants with minor allele frequency TP73 were not enriched in patients.. Conclusions. Our findings did not support the genetic role of TP73 in ALS in the Chinese population. Replication of specific variants identified in patients from different cohorts might provide additional insight. The current results also broadened the mutation spectrum of TP73 and paved the way for further research.
