LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan

Table 2

Allele frequency and distribution of the 8 tested LRRK2 variants.

SNP	Hardy–Weinberg equilibrium p-value	Number of samples	Allele	n^a	Frequency	Genotype	n^b	Frequency
p.Gly2019Ser (c.6055G>A)	1	198 controls				GG	198	1.00
			G	396	1.00	GA	0	0.00
			A	0	0.00	AA	0	0.00
	1	241 PD		482	1.00	GG	241	1.00
			G	0	0.00	GA	0	0.00
			A			AA	0	0.00
p.Arg1441His (c.4322G>A)	1	199 controls				GG	199	1.00
			G	398	1.00	GA	0	0.00
			A	0	0.00	AA	0	0.00
	1	240 PD		480	1.00	GG	240	1.00
			G	0	0.00	GA	0	0.00
			A			AA	0	0.00
p.Tyr1699Cys (c.5096A>G)	1	196 controls				GG	196	1.00
			G	392	1.00	GA	0	0.00
			A	0	0.00	AA	0	0.00
	1	239 PD		478	1.00	GG	239	1.00
			G	0	0.00	GA	0	0.00
			A			AA	0	0.00
p.Ile2020Thr (c.6059T>C)	1	198 controls				TT	198	1.00
			T	396	1.00	TC	0	0.00
			C	0	0.00	CC	0	0.00
	1	242 PD		484	1.00	TT	242	1.00
			T	0	0.00	TC	0	0.00
			C			CC	0	0.00
p.Asn1437His (c.4309A>C)	1	199 controls				AA	198	1.00
			A	398	1.00	AC	0	0.00
			C	0	0.00	CC	0	0.00
	1	240 PD		480	1.00	AA	240	1.00
			A	0	0.00	AC	0	0.00
			C			CC	0	0.00
p.Gly2385Arg (c.7153G>A)	0.94	199 controls				GG	197	0.99
			G	396	0.995	GA	2	0.01
			A	2	0.005	AA	0	0.00
	0.92	239 PD				GG	236	0.99
			G	475	0.993	GA	3	0.01
			A	3	0.007	AA	0	0.00
p.Ala419Val (c.1256C>T)	0.85	199 controls				CC	194	0.98
			C	393	0.988	CT	5	0.02
			T	5	0.012	TT	0	0.00
	0.004	242 PD			0.98	CC	233	0.97
			C	474	0.02	CT	8	0.04
			T	10		TT	1	0.00
p.Arg1628Pro (c.4883G>C)	0.94	199 controls				GG	197	0.99
			G	396	0.995	GT	2	0.01
			C	2	0.005	TT	0	0.00
	1	236 PD				GG	236	1.00
			G	472	1.00	GT	0	0.00
			C	0	0.00	TT	0	0.00

n1—number of alleles, n2—number of genotypes, PD–Parkinson’s disease, HWE–Hardy–Weinberg equilibrium, and NA–not applicable.