Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients

Zhe Long, Zhao Chen, Chunrong Wang, Fengzhen Huang, Huirong Peng, Xuan Hou, Dongxue Ding, Wei Ye, Junling Wang, Qian Pan, Jiada Li, Kun Xia, Beisha Tang, Tetsuo Ashizawa, Hong Jiang

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17 Scopus citations


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.

Original languageEnglish (US)
Article numbere0117488
JournalPLoS ONE
Issue number2
StatePublished - Feb 17 2015

ASJC Scopus subject areas

  • General


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