The genetics of Parkinson’s disease: review of current and emerging candidates

Figures & data

Table 1 Current candidate genes of interest identified with linkage studies in families with hereditary forms of Parkinson’s disease

Gene	Chromosome	PD type	Important mutations
SNCA	4q21	AD	A30P, E46K, A53T, H50Q
LRRK2	12q12	AD	R1441C/G/H, Y1699C, G2019S, 12020T, G2385R
GBA	1q21	AD	L444P, N370S
VPS35	16q11.2	AD	D620N
EIF4GI	3q26-q28	AD	R1205H
DNAJC6	1p31.3	AR, Juvenile onset	c.801-2 A>G, c.182A>T

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; PD, Parkinson’s disease.

Table 2 Candidate genes for Parkinson’s disease identified through genome-wide association studies and meta-analysis

Gene	Chromosome	SNP	Reference
PARK16	1q32	rs947211	Satake et al, 2009^Citation19
BST1	4p45	rs4538457	Satake et al, 2009^Citation19
		rs12502586	Simon-Sanchez et al, 2009^Citation20
HLA-DRA	6p21	rs3129882	Hamza et al, 2010^Citation15
FAM47E/SCARB2	4q21	rs6812193	Do et al, 2011^Citation13
SREBF/RAI1	17p11	rs11868035	Do et al, 2011^Citation13
GAK	4p16	rs1564282	Nalls et al, 2011^Citation16
ACMSD	2q21.3	rs6710823	Nalls et al, 2011^Citation16
STK39	2q24.3	rs2102808	Nalls et al, 2011^Citation16
MCCC1/LAMP3	3q27	rs11711441	Nalls et al, 2011^Citation16
SYT11	1q21.2	rs3472695*	Nalls et al, 2011^Citation16
CCDC62/HIP1R	12q24	rs12817488	Nalls et al, 2011^Citation16
SETDIA/STX1B	16p11.2	rs4889603	IPDGC, 2011^Citation88
STBD1	4q21	rs6812193	IPDGC, 2011^Citation88
GPNMB	7p15	rs156429	IPDGC, 2011^Citation88
DGKQ	4p16	rs11248060	Pankratz et al, 2012^Citation17
RIT2	18q12.3	rs12456492	Pankratz et al, 2012^Citation17

Note:

* In proxy with Chr1:154105678.

Abbreviation: SNP, single nucleotide polymorphism; rs, reference SNP number.

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