Lack of evidence that SCARB2 is associated with Parkinson disease

Thursday, October 11, 2012 — Poster Session III
10:00 a.m. – Noon	Natcher Conference Center, Building 45	NHGRI	GEN/GENOM-16

Authors

• E.D. Maniwang
• N. Tayebi
• E. Sidransky

Abstract

Genetic risk factors have been identified for Parkinson disease, including mutations in glucocerebrosidase (GBA1). Recently, two single nucleotide polymorphisms (SNPs) located 64 kb upstream and within intron 2 of SCARB2 were reported to be associated with Parkinson disease. Rs6812193 was evaluated in American subjects of European ancestry (p = 7.6 x 10-10, OR = 0.84) and rs6825004 in Greeks (p = 0.02, OR=0.68). SCARB2 is an attractive candidate gene as it encodes for lysosomal integral membrane protein type 2 (LIMP-2), a protein involved in transporting glucocerebrosidase from the ER to the lysosome. We genotyped 15 control DNA samples using a Taqman assay, and evaluated whether these SNPs impact SCARB2 expression or LIMP-2 levels. As neither relative RNA expression, by real-time PCR, nor LIMP-2 levels on Western blots correlated with SNP genotype, these polymorphisms are not likely PD risk alleles.

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