Table 5.
LRRK2 pathogenic mutation carriers stratified by collection
cDNA | Protein | Domain | AD (687) |
Bp (777) |
CAD (604) |
COPD (1768) |
Dylip cases (862) |
Dylip conts (780) |
Epi (275) |
IBS (317) |
MS (670) |
OA (832) |
RA (611) |
SZ (1099) |
Unip (741) |
CoLaus (2059) |
LP (541) |
Total carriers (12623) |
Variant Frequency (%) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.4321C>T | p.Arg1441Cys | ROC | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 1 | 0.016 |
c.4883G>C | p.Arg1628Pro | COR | 3 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 6 | 0.048 |
c.6055G>A | p.Gly2019Ser | kinase | 0 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 3 | 2 | 0 | 0 | 0 | 1 | 0 | 9 | 0.071 |
c.7153G>A | p.Gly2385Arg | WD40 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0.008 |
Carriers (n) |
3 | 1 | 1 | 0 | 0 | 2 | 0 | 0 | 3 | 3 | 1 | 1 | 0 | 2 | 0 | 17 | |||
Rate (%) |
0.44 | 0.13 | 0.17 | 0 | 0 | 0.26 | 0 | 0 | 0.45 | 0.36 | 0.16 | 0.09 | 0 | 0.10 | 0 | 0.13 |
The number of variant carriers per collection is indicated in parentheses for white Caucasian subjects only, and control collections are shaded. Both COPD collections (Refer to Table 1) were pooled for this analysis. Collection abbreviations; AD=Alzheimer disease, Bp=bipolar disorder, CAD=coronary artery disease, COPD=chronic obstructive pulmonary disease, Dylip=dyslipidemia (conts=controls), Epi=epilepsy, IBS=irritable bowel syndrome, MS=multiple sclerosis, OA=osteoarthritis, RA=rheumatoid arthritis, SZ=schizophrenia, Unip=Unipolar disorder, CoLaus =CoLaus and LP=LOLIPOP (white) population controls, respectively.