Table 1.
Clinical characteristics: (A) Participants for the LRRK2-p.G2019S and GBA variant screening. (B) Participants selected for WES (from Mount Sinai Beth Israel).
| (A) Participants for the LRRK2-p.G2019S and GBA variant screening | ||||
|---|---|---|---|---|
| Characteristics | Self-reported ethnicity | P | ||
| Puerto Rican | Non-Hispanic European | |||
| Overall: N | 32 | 119 | ||
| Sex: N women (%) total | 15 (46.9%) | 51 (42.9%) | 0.684 | |
| Age at PD onset (years, mean ± SD) | 53.3 ± 15.0 | 54.7 ± 10.9 | 0.748 | |
| LRRK2-p.G2019S carriers: N (%) | 5 (15.6%) | 5 (4.2%) | 0.031* | |
| Sex: N women (%) LRRK2 carriers | 1 (20%) | 3 (60%) | 0.197 | |
| Age at PD onset (years, mean ± SD) | 53.0 ± 8.0 | 59.2 ± 4.1 | 0.222 | |
|
GBA variant carriers: N (%) p.N370S p.R496H p.L444P RecNcil IVS2 + 1 p.E326K p.T369M |
0 |
14 (13.0%) 2 (2 F, 0 M) 1 (1 F, 0 M) 2 (1 F, 1 M) 1 (0 F, 1 M) 0 4 (4 F, 0 M) 4 (1 F, 3 M) |
0.131 | |
| Age at PD onset (years, mean ± SD) | – | 53.9 ± 8.9 | – | |
| Dual LRRK2-p.G2019S/GBA-p.T369M variant carrier | 1 | 0 | – | |
| Age PD onset (years, mean ± SD) | 62 | – | – | |
| (B) Patients selected for WES | ||||
| ID | Sex | Age of onset | Family history (inheritance) | Country of Origin |
| 1 | F | 61 | Yes (AD) | DR |
| 2 | F | 45 | Yes (AD) | DR |
| 4 | M | 38 | No | PR |
| 5 | M | 46 | No | DR |
| 6 | F | 24 | Yes (unclear) | PR |
| 7 | F | 37 | Unknown | PR |
| 8 | F | 58 | Yes (unclear) | PR |
| 9 | M | 57 | Unknown | PR |
| 10* | F | 17 | No | PR |
| 11 | F | 41 | No | DR |
| 12 | M | 41 | Yes (unclear) | PR |
| 13 | F | 47 | No | PR |
(A) LRRK2-p.G2019S and GBA variant status, sex and age at PD onset available in 30/32 and 29/32 participants self-reporting Puerto Rican ancestry, resp. and in 115/119 and 113/119 self-reporting European ancestry, respectively, *OR (95% CI): 4.22 (1.14, 15.6). One Puerto Rican participant carried both the LRRK2-p.G2019S and the GBA-p.T369M variations.
(B) PR Puerto Rico, DR Dominican Republic, F female, M male, AD autosomal dominant; *WES was performed, but the participant was excluded from the comparisons of AF in cases and controls, due to report of pathogenic PRKN deletions: (1) del Exon 3, and (2) del Exons 2–4.