. 2021 May 11;36(8):1805–1814. doi: 10.1002/mds.28583

TABLE 1.

Trans‐ethnic major histocompatibility complex fine‐mapping of risk‐associated variants in Parkinson's disease

HLA variant	European populations										East Asian populations				Meta‐analysis
	UKB		23andMe25		23andMe25		23andMe⁴		23andMe⁶		Japanese26		East Asian⁵		Meta‐analysis
	1599 cases and 352,325 controls		3261 cases and 29,499 controls		866 cases and 32,538 controls		6476 cases and 302,042 controls		2448 cases and 571,411 controls		988 cases and 2521 controls		779 cases and 13,227 controls		16,417 cases and 1,304,373 controls
	OR (95% CI)^a	P	OR (95% CI)^a	P	OR (95% CI)^a	P	OR (95% CI)^a	P	OR (95% CI)^a	P	OR (95% CI)^a	P	OR (95% CI)^a	P	Effect^b	P
Trans‐ethnic association with PD risk (not conditioned)
HLA‐DRβ1 amino acid position 13 (chr6: 32,552,130–32,552,132; rs9269951 [C/A], rs1136759 [C/A/G/T], and rs1136758 [T/A/C/G])^c
Arg (ACG, CCG, CCT)	1.11 (0.98–1.25)	0.10	1.01 (0.92–1.10)	0.82	1.04 (0.88–1.23)	0.66	1.11 (1.04–1.18)	7.5 × 10⁻⁴	1.11 (1.01–1.23)	0.029	0.93 (0.81–1.06)	0.28	1.11 (0.98–1.26)	0.10	Risk	9.1 × 10⁻⁵
Gly (ACC, CCC)	1.13 (0.97–1.31)	0.11	1.00 (0.89–1.11)	0.95	1.02 (0.84–1.26)	0.82	1.01 (0.93–1.08)	0.89	1.04 (0.92–1.17)	0.56	0.99 (0.87–1.13)	0.86	0.86 (0.77–0.97)	0.013	‐	0.58
His (ATG)	0.91 (0.84–0.98)	0.012	0.87 (0.83–0.92)	2.9 × 10⁻⁶	0.89 (0.80–0.99)	0.025	0.91 (0.88–0.95)	5.5 × 10⁻⁶	0.92 (0.87–0.98)	0.0098	1.02 (0.91–1.15)	0.75	0.81 (0.70–0.93)	0.0041	Protective	6.0 × 10⁻¹⁵
Phe (AAA)	0.92 (0.83–1.03)	0.16	1.07 (0.99–1.16)	0.11	1.15 (0.99–1.34)	0.063	1.05 (1.00–1.11)	0.063	1.03 (0.94–1.13)	0.50	1.04 (0.92–1.18)	0.52	1.16 (0.99–1.36)	0.073	Risk	0.0036
Ser (ACT, AGA, CGA)	1.02 (0.95–1.10)	0.52	1.04 (0.99–1.10)	0.11	0.98 (0.89–1.08)	0.67	1.01 (0.97–1.05)	0.64	0.99 (0.94–1.05)	0.81	1.02 (0.89–1.18)	0.74	1.17 (1.03–1.34)	0.017	Risk	0.030
Tyr (ATA)	1.05 (0.92–1.19)	0.45	1.15 (1.05–1.26)	0.0040	1.16 (0.97–1.38)	0.10	1.03 (0.97–1.10)	0.37	1.06 (0.96–1.18)	0.26	0.63 (0.23–1.73)	0.37	0.97 (0.80–1.17)	0.74	Risk	0.027
Trans‐ethnic association with PD risk (conditioned on amino acid positions of 13 in HLA‐DRβ1)
HLA‐B amino acid position 69 (chr6: 31,324,529–31,324,531; rs41548914 [G/A/T], rs41546313 [G/A/C], and rs1131204 [C/G/T])^c
Ala (AGC, GGC, TGC)	1.12 (1.03–1.22)	0.012	1.09 (1.02–1.16)	0.0076	1.10 (0.97–1.24)	0.12	1.04 (1.00–1.09)	0.072	1.11 (1.04–1.19)	0.0031	1.01 (0.88–1.15)	0.91	1.17 (1.03–1.33)	0.018	Risk	1.0 × 10⁻⁷
Thr (AGT, GGT, TGT)	0.89 (0.82–0.98)	1.2 × 10⁻²	0.92 (0.86–0.98)	0.0089	0.91 (0.81–1.03)	0.12	0.97 (0.92–1.01)	0.11	0.90 (0.84–0.96)	0.0022	1.01 (0.90–1.14)	0.81	0.88 (0.78–0.99)	0.032	Protective	4.8 × 10⁻⁷

Abbreviations: 95% CI, 95% confidence interval; Ala, alanine; Arg, alginine; Gly, glycine; His, histidine; OR, odds ratio; PD, Parkinson's disease; Phe, phenylalanine; Ser, serine; Thr; threonine; Tyr, thyrosine; UKB, UK Biobank.

^{^a}

ORs and 95% CIs were estimated from the imputed z scores.

^{^b}

Only variants with nominally significant effects are labeled as “risk” or “protective” based on the effect direction.

^{^c}

Chromosome position and rs‐numbers with their alleles are shown in parenthesis. Amino acid residues only tested in the current study are shown along with their corresponding tri‐nucleotides on the genome (ie, reverse compliments of their codons) in parenthesis.