TY - JOUR
T1 - Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients
AU - Long, Zhe
AU - Chen, Zhao
AU - Wang, Chunrong
AU - Huang, Fengzhen
AU - Peng, Huirong
AU - Hou, Xuan
AU - Ding, Dongxue
AU - Ye, Wei
AU - Wang, Junling
AU - Pan, Qian
AU - Li, Jiada
AU - Xia, Kun
AU - Tang, Beisha
AU - Ashizawa, Tetsuo
AU - Jiang, Hong
N1 - Publisher Copyright:
© 2015 Long et al.
PY - 2015/2/17
Y1 - 2015/2/17
N2 - Spinocerebellar ataxia type 3(SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The number of repeats is inversely associated with age at disease onset (AO) and is significantly associated with disease severity; however, the degree of CAG expansion only explains 50 to 70% of variance in AO. We tested two SNPs, rs709930 and rs910369, in the 3' UTR of ATXN3 gene for association with SCA3/MJD risk and with SCA3/MJD AO in an independent cohort of 170 patients with SCA3/MJD and 200 healthy controls from mainland China. rs709930 genotype frequencies were statistically significantly different between patients and controls (p = 0.001, α = 0.05). SCA3/MJD patients carrying the rs709930 A allele and rs910369 T allele experienced an earlier onset, with a decrease in AO of approximately 2 to 4 years. The two novel SNPs found in this study might be genetic modifiers for AO in SCA3/MJD.
AB - Spinocerebellar ataxia type 3(SCA3), or Machado-Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The number of repeats is inversely associated with age at disease onset (AO) and is significantly associated with disease severity; however, the degree of CAG expansion only explains 50 to 70% of variance in AO. We tested two SNPs, rs709930 and rs910369, in the 3' UTR of ATXN3 gene for association with SCA3/MJD risk and with SCA3/MJD AO in an independent cohort of 170 patients with SCA3/MJD and 200 healthy controls from mainland China. rs709930 genotype frequencies were statistically significantly different between patients and controls (p = 0.001, α = 0.05). SCA3/MJD patients carrying the rs709930 A allele and rs910369 T allele experienced an earlier onset, with a decrease in AO of approximately 2 to 4 years. The two novel SNPs found in this study might be genetic modifiers for AO in SCA3/MJD.
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U2 - 10.1371/journal.pone.0117488
DO - 10.1371/journal.pone.0117488
M3 - Article
C2 - 25689313
AN - SCOPUS:84928911814
SN - 1932-6203
VL - 10
JO - PLoS ONE
JF - PLoS ONE
IS - 2
M1 - e0117488
ER -