Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.
Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients.
复制标题
ATXN3 3' UTR 中的两个新 SNP 可能会降低中国患者 SCA3/MJD 的发病年龄
DOI：
10.1371/journal.pone.0117488
复制
发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Jiang H
中科院分区：
文献类型：
--
作者：
Long Z;Chen Z;Wang C;Huang F;Peng H;Hou X;Ding D;Ye W;Wang J;Pan Q;Li J;Xia K;Tang B;Ashizawa T;Jiang H
脊髓小脑性共济失调3型（SCA 3），或马查多-约瑟夫病（MJD），是一种常染色体显性遗传疾病，产生进行性运动问题。它是由ATXN 3的编码区中CAG重复区域的扩展引起的。重复序列的数量与疾病发作时的年龄（AO）呈负相关，并与疾病的严重程度显著相关;然而，CAG扩增的程度仅解释了AO变异的50%至70%。我们在中国大陆的170例SCA 3/MJD患者和200例健康对照者中检测了ATXN 3基因3' UTR中的两个SNPs rs709930和rs 910369与SCA 3/MJD风险和SCA 3/MJD AO的相关性。rs709930基因型频率在患者组和对照组之间差异有统计学意义（p = 0.001，α = 0.05）。携带rs709930 A等位基因和rs 910369 T等位基因的SCA 3/MJD患者发病较早，AO缩短约2 - 4年。本研究中发现的两个新的SNPs可能是SCA 3/MJD中AO的遗传修饰因子。
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.
登录
查看更多内容
影响因子：
14.5
作者：
du Montcel, Sophie Tezenas;Durr, Alexandra;Stevanin, Giovanni
通讯作者：
Stevanin, Giovanni
影响因子：
6.7
作者：
Costa, Maria do Carmo;Paulson, Henry L.
通讯作者：
Paulson, Henry L.
影响因子：
11.2
作者：
Warrenburg, BPCV;Hendriks, H;Kremer, BPH
通讯作者：
Kremer, BPH
影响因子：
3.5
作者：
Bettencourt, Conceicao;Raposo, Mafalda;Lima, Manuela
通讯作者：
Lima, Manuela
影响因子：
2.2
作者：
Shi, Yuting;Huang, Fengzhen;Jiang, Hong
通讯作者：
Jiang, Hong