Abstract
Purpose: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. Materials and Methods: We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1: SMN2 genotypes. Results: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1: SMN2 genotype, 2: 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2: 0) was significantly younger (34±15.38 years) than that of patients with 2: 1, 2: 2 and 2: 3 of the SMN1: SMN2 genotype (59.5±5.09; 52.69±16.46 and 50±0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2: 0 genotype (40%) than in the 2: 1, 2: 2 and 2: 3 genotypes (83.3%, 100% and 100%) (p=0.02). Conclusion: The homozygous SMN2 deletion (2: 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.
| Original language | English |
|---|---|
| Pages (from-to) | 53-57 |
| Number of pages | 5 |
| Journal | Yonsei medical journal |
| Volume | 53 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2012 Jan 1 |
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All Science Journal Classification (ASJC) codes
- Medicine(all)
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Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients. / Lee, Jun Beom; Lee, Kyung A.; Hong, Ji Man; Suh, Gyoung Im; Choi, Young Chul.
In: Yonsei medical journal, Vol. 53, No. 1, 01.01.2012, p. 53-57.Research output: Contribution to journal › Article
TY - JOUR
T1 - Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients
AU - Lee, Jun Beom
AU - Lee, Kyung A.
AU - Hong, Ji Man
AU - Suh, Gyoung Im
AU - Choi, Young Chul
PY - 2012/1/1
Y1 - 2012/1/1
N2 - Purpose: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. Materials and Methods: We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1: SMN2 genotypes. Results: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1: SMN2 genotype, 2: 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2: 0) was significantly younger (34±15.38 years) than that of patients with 2: 1, 2: 2 and 2: 3 of the SMN1: SMN2 genotype (59.5±5.09; 52.69±16.46 and 50±0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2: 0 genotype (40%) than in the 2: 1, 2: 2 and 2: 3 genotypes (83.3%, 100% and 100%) (p=0.02). Conclusion: The homozygous SMN2 deletion (2: 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.
AB - Purpose: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. Materials and Methods: We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1: SMN2 genotypes. Results: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1: SMN2 genotype, 2: 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2: 0) was significantly younger (34±15.38 years) than that of patients with 2: 1, 2: 2 and 2: 3 of the SMN1: SMN2 genotype (59.5±5.09; 52.69±16.46 and 50±0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2: 0 genotype (40%) than in the 2: 1, 2: 2 and 2: 3 genotypes (83.3%, 100% and 100%) (p=0.02). Conclusion: The homozygous SMN2 deletion (2: 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.
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UR - http://www.scopus.com/inward/citedby.url?scp=84255184836&partnerID=8YFLogxK
U2 - 10.3349/ymj.2012.53.1.53
DO - 10.3349/ymj.2012.53.1.53
M3 - Article
C2 - 22187232
AN - SCOPUS:84255184836
VL - 53
SP - 53
EP - 57
JO - Yonsei Medical Journal
JF - Yonsei Medical Journal
SN - 0513-5796
IS - 1
ER -