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Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.

Authors
 Juwon Kim  ;  Sang-Guk Lee  ;  Young-Chul Choi  ;  Seong-Woong Kang  ;  Jun-Beom Lee  ;  Jong Rak Choi  ;  Kyung A Lee 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.40(4) : 368-374, 2010 
Journal Title
ANNALS OF CLINICAL AND LABORATORY SCIENCE
ISSN
 0091-7370 
Issue Date
2010
MeSH
Adult ; Aged ; Asian Continental Ancestry Group/genetics* ; Case-Control Studies ; Female ; Gene Deletion* ; Gene Dosage/genetics ; Genetic Predisposition to Disease* ; Homozygote* ; Humans ; Male ; Middle Aged ; Models, Genetic ; Motor Neuron Disease/genetics* ; Republic of Korea ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics*
Keywords
survivor motor neuron 2 gene ; gene deletion ; spinal muscular atrophy
Abstract
The association between survivor motor neuron (SMN) gene deletions and motor neuron diseases such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) suggest that sporadic lower motor neuron disease (LMND) may be related to SMN gene deletion. We examined the association between copy numbers of SMN and the risk of LMND among Koreans. We genotyped the copy number of SMN1 and SMN2 in 18 patients diagnosed with sporadic LMND and 100 neurologically healthy subjects using the multiplex ligation-dependent probe amplification (MLPA) method. A total of eight SMN1:SMN2 genotypes (1:1, 1:3, 2:0, 2:1, 2:2, 2:3, 3:2, and 2:2/3:1 of exon7/exon8) were found. We found that homozygous deletion of SMN2 was significantly related to LMND (OR 20.7; 95% CI 2.8-150.5; p = 0.003). There was no significant difference in the distribution of the SMN1 copy number between the LMND patients and controls. In contrast to ALS, the risk of which is influenced by various factors other than SMN copy number itself, the association studies in LMND show a consistent finding that homozygous deletion of SMN2 may be specifically related to LMND, despite the small number of subjects.
Full Text
http://www.annclinlabsci.org/content/40/4/368.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seong Woong(강성웅) ORCID logo https://orcid.org/0000-0002-7279-3893
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Sang-Guk(이상국) ORCID logo https://orcid.org/0000-0003-3862-3660
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/101990
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