肌肽酶基因CNDP1亮氨酸重复序列多态性与中国帕金森病患者临床结局的关系
Relationship between carnosinase gene CNDP1 leucine repeat polymorphism and the clinical outcome of Chinese PD patients.
作者信息
Poon P Y-K, Szeto C-C, Kwan B C-H, Chow K-M, Li P K-T
机构信息
Departments of Medicine & Therapeutics, Prince of Wales Hospital, The Chinese University of Hong Kong, Shatin, Hong Kong, China.
出版信息
Clin Nephrol. 2010 Nov;74(5):343-5. doi: 10.5414/cnp74343.
BACKGROUND
pre-clinical studies showed that carnosine may have a beneficial cardiovascular effect. We studied the effect of tri-nucleotide repeat (CTGs) polymorphisms in exon 2 of the CNDP1 gene, which codes for carnosinase and is responsible for the degradation of carnosine, on the clinical outcome of Chinese peritoneal dialysis (PD) patients.
METHODS
we studied 442 PD subjects. Genotyping was done by direct sequencing of genomic DNA. Patients were followed for 43.5 ± 16.2 months.
RESULTS
the prevalence of 6-6, 5-6, 5-5 and 4-6 CTGs genotypes was 80.3%, 18.6%, 0.9% and 0.2%, respectively. A total of 270 patients (61.1%) developed the primary composite end point during follow-up. The 5-year event-free survival of the 6-6 CTGs and non 6-6 group was 37.1% and 21.3%, respectively (log rank test, p = 0.3).
CONCLUSION
the CTGs polymorphism of the CNDP1 gene does not affect survival of Chinese PD subjects. The role of carnosine and CNDP1 gene polymorphism in the pathogenesis of cardiovascular disease requires further study.
背景
临床前研究表明肌肽可能具有有益的心血管作用。我们研究了编码肌肽酶并负责肌肽降解的CNDP1基因外显子2中三核苷酸重复序列（CTG）多态性对中国腹膜透析（PD）患者临床结局的影响。
方法
我们研究了442名PD受试者。通过对基因组DNA进行直接测序来进行基因分型。对患者进行了43.5±16.2个月的随访。
结果
6-6、5-6、5-5和4-6 CTG基因型的患病率分别为80.3%、18.6%、0.9%和0.2%。共有270名患者（61.1%）在随访期间出现了主要复合终点。6-6 CTG组和非6-6组的5年无事件生存率分别为37.1%和21.3%（对数秩检验，p = 0.3）。
结论
CNDP1基因的CTG多态性不影响中国PD受试者的生存。肌肽和CNDP1基因多态性在心血管疾病发病机制中的作用需要进一步研究。
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