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Genetic analysis of NR 4 A 2 gene in a large population of H an C hinese patients with P arkinson's disease
Author(s) -
Liu H.,
Tao Q.,
Deng H.,
Ming M.,
Ding Y.,
Xu P.,
Chen S.,
Song Z.,
Le W.
Publication year - 2013
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2012.03824.x
Subject(s) - exon , intron , population , genetics , gene , microbiology and biotechnology , biology , medicine , environmental health
Background NR 4 A 2 gene is a transcription factor crucial for differentiation and survival of midbrain dopamine ( DA ) neurons, and several variants have been eported to be associated with P arkinson's disease ( PD ) in the Caucasian population. Methods To determine whether there is any association of NR 4 A 2 mutation or variation with PD in the H an C hinese population, we performed a genetic analysis of all the exons and exon–intron boundaries in 689 PD patients and 672 controls from mainland C hina using direct sequencing analysis. Results We identified four novel variants and two previously reported variants. Two novel variants (exon 2 c.‐20 C > G and exon 3 c.711 C > A ) were only found in PD . The others (exon 2 c.‐35 A > G ; exon 8 c.1615 G > A ; intron 4 IVS 4‐16 G > T ; and intron 6 IVS 6 + 18 ins G ) were found in both PD and controls at different frequencies. Conclusions Collectively, our results suggest that NR 4 A 2 may be a susceptibility gene for PD in the C hinese population.