التفاصيل البيبلوغرافية
| العنوان: |
Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson's Disease. |
| المؤلفون: |
Gu, Xiaojing, Hou, Yanbing, Chen, Yongping, Ou, Ruwei, Cao, Bei, Wei, Qianqian, Zhang, Lingyu, Song, Wei, Zhao, Bi, Wu, Ying, Shang, Huifang |
| المصدر: |
Frontiers in Genetics; 10/18/2021, Vol. 12, p1-4, 4p |
| مصطلحات موضوعية: |
PARKINSON'S disease, CHINESE people, PHENOTYPES, EXOMES, DEEP brain stimulation |
| مستخلص: |
A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes could be rescued after correction of the variant. The aim of the study was to screen the variants of LIN28A in Chinese patients with EOPD. A total of 682 EOPD patients were sequenced with whole exome sequencing and the coding and flanking region of LIN28A were analyzed. We identified a rare coding variant, p. P182L, of LIN28A in a Chinese patient with EOPD. Moreover, we also found a 3′-UTR polymorphism (rs4659441) to be associated with an increased risk for PD. However, our rare variant burden analysis did not support a role for LIN28A as a major causal gene for PD. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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