Table 2.
Overall frequencies of LRRK2, SNCA, and VPS35 mutations according to index case ethnicity, family history of Parkinson's disease and age at onset.
| Europeans | North-Africans | North-Africans vs. Europeans OR, 95% CI, p | AD PD | Isolated cases | AD PD vs. isolated cases OR, 95% CI, p | EO-PD | LO-PD | LO-PD vs. EO-PD OR, 95% CI, p | |
|---|---|---|---|---|---|---|---|---|---|
| n = 1,530 | n = 221 | n = 592 | n = 1,213 | n = 1,063 | n = 636 | ||||
| All LRRK2, n (%, 95% CI) | 38 (2.5%, [1.8–3.4]) | 100 (45.2%, [38.6–52.0]) | OR = 32.5, [21.4–49.2], p < 0.0001 | 54 (9.1%, [6.9–11.7]) | 84 (6.9%, [5.6–8.5]) | OR = 1.3, [0.9–1.9], p = 0.11 | 71 (6.7%, [5.3–8.4]) | 61 (9.6%, [7.4–12.2]) | OR = 1.5, [1.0–2.1], p = 0.03 |
| Gly2019Ser n (%) | 36 (2.4%) | 100 (45.2%) | 52 (8.8%) | 84 (6.9%) | 71 (6.7%) | 59 (9.3%) | |||
| Arg1441His n (%) | 2 (0.13%) | 0 (0%) | 2 (0.34%) | 0 (0%) | 0 (0%) | 2 (0.32%) | |||
| All SNCA, n (%, 95% CI) | 18 (1.2%, [0.7–1.9]) | 1 (0.45%, [0.01–2.5]) | OR = 0.38, [0.05–2.9], p = 0.50 | 14 (2.4%, [1.3–3.9]) | 5 (0.41%, [0.1–1.0]) | OR = 5.9, [2.1–16.3], p = 0.0003 | 16 (1.5%, [0.9–2.4]) | 3 (0.47%, [0.1–1.4]) | OR = 0.31, [0.09–1.1], p = 0.06 |
| Triplications n (%) | 1 (0.065%) | 0 (0%) | 1 (0.17%) | 0 (0%) | 1 (0.094%) | 0 (0%) | |||
| Duplications n (%) | 13 (0.85%) | 1 (0.5%) | 11 (1.9%) | 3 (0.25%) | 11 (1.0%) | 3 (0.47%) | |||
| Ala53Thr n (%) | 3 (0.20%) | 0 (0%) | 1 (0.17%) | 2 (0.16%) | 3 (0.28%) | 0 (0%) | |||
| Gly51Asp n (%) | 1 (0.065%) | 0 (0%) | 1 (0.17%) | 0 (0%) | 1 (0.094%) | 0 (0%) | |||
| VPS35 Asp620Asn, n (%, 95% CI) | 3 (0.20%, [0.04–0.57]) | 0 (0%) | p = 1 | 3 (0.51%, [0.1–1.5]) | 0 (0%) | p = 0.04 | 2 (0.19%, [0.02–0.7]) | 1 (0.16%, [0.0–0.9]) | OR = 0.84, [0.08–9.2], p = 1 |
| Total mutations, n (%, 95% CI) | 59 (3.9%, [2.9–4.9]) | 101 (45.7%, [39.0–52.5]) | OR = 21.0, [14.5–30.4], p < 0.0001 | 71 (12.0%, [9.5–14.9] | 89 (7.3%, [5.9–9.0]) | OR = 1.7, [1.2–2.4, p = 0.001 | 89 (8.4%, [6.8–10.2] | 65 (10.2%, [8.0–12.8] | OR = 1.3, [0.9–1.8], p = 0.22 |
Age at onset was missing for 106 cases, including 6 with the LRRK2 G2019S mutation. We also considered patients with missing AAO data examined at an age ≤ 50 years (n = 26) to have early-onset PD.
AD, autosomal dominant; CI, confidence intervals; EO, early-onset; LO, late-onset; OR, odds ratio; PD, Parkinson's disease.