Skip to main content
. Author manuscript; available in PMC: 2013 Jul 1.
Published in final edited form as: Hum Mutat. 2012 Apr 4;33(7):1087–1098. doi: 10.1002/humu.22075

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.