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. 2022 May 31;145(6):2077–2091. doi: 10.1093/brain/awab456

Table 4.

Odds of Parkinson’s disease or parent with Parkinson’s disease in PRKN heterozygous mutation carriers in UK Biobank

Mutation Mut_Cases Mut_controls NoMut_Cases NoMut_controls Odds CI P-value
For single PRKN mutation carriers
Odds of Parkinson’s disease in UK Biobank participants with WES and array (n = 200606)
Frameshift_SNP 2 683 1372 198 549 0.42 0.05–1.54 0.35
AnySNP 15 2517 1359 196 715 0.86 0.48–1.43 0.71
AnyMut 23 3648 1351 195 584 0.91 0.58–1.38 0.76
Odds of parent with Parkinson’s disease in UK Biobank participants with WES and array (n = 200606)
Frameshift_SNP 29 656 7465 192 456 1.14 0.76–1.65 0.48
AnySNP 104 2428 7390 190 684 1.11 0.90–1.35 0.32
AnyMut 152 3519 7342 189 593 1.12 0.94–1.31 0.19
Odds of Parkinson’s disease in NIH–PD + AMP–PD (n = 2862 cases versus 1099 controls)
Frameshift_SNP 8 1 2853 1098 3.08 0.41–136.70 0.46
AnySNP 27 7 2834 1092 1.49 0.63–4.05 0.44
AnyCNV 30 10 2831 1089 1.15 0.55–2.66 0.86
AnyMut 57 17 2804 1082 1.29 0.74–2.38 0.43
For double PRKN mutation carriers
Odds of Parkinson’s disease in UK Biobank Participants with WES and microarray (n = 200606)
AnyMut 2 22 1351 195 584 13.16 1.50–53.57 0.012
Odds of Parkinson’s disease in NIH–PD + AMP–PD (n = 2862 cases versus 1099 controls)
AnyMut 20 0 2804 1082 Infinity 1.90–infinity 0.0020