Calpastatin Gene

• Published in: PloS one 2013-08, Vol.8 (8), p.e70935
• Main Authors: Zhang, Lan, Ding, Hui, Wang, Dan-Hui, Zhang, Yan-Li, Baskys, Andrius, Chan, Piu, Zhong, Yu, Cai, Yan-Ning
• Format: Article
• Language: English
• Subjects: Calpain; Genes; Genetic aspects; Medical research; Single nucleotide polymorphisms
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0070935

Recent studies point to an association between the late-onset sporadic Parkinson's disease (PD) and single nucleotide polymorphisms (SNPs) rs1559085 and rs27852 in Ca.sup.2+ -dependent protease calpain inhibitor calpastatin (CAST) gene. This finding is of interest since loss of CAST activity could result in over activated calpain, potentially leading to Ca.sup.2+ dysregulation and loss of substantia nigra neurons in PD. We explored the association between CAST SNPs and late-onset sporadic PD in the Han Chinese population. The study included 615 evaluable patients (363 male, 252 female) with PD and 636 neurologically healthy controls (380 male, 256 female) matched for age, gender, ethnicity, and area of residence. PD cases were identified from the PD cohort of the Chinese National Consortium on Neurodegenerative Diseases (www.chinapd.cn). A total of 24 tag-SNPs were genotyped capturing 95% of the genetic variation across the CAST gene. There was no association found between any of the polymorphisms and PD in all models tested (co-dominant, dominant-effect and recessive-effect). Similarly, none of the common haplotypes was associated with a risk for PD. Our data do not support a significant association between the CAST gene polymorphisms and late onset sporadic PD in the Han Chinese population.