DAF regulatory SNP in MG
Supplementary Material:
Table S1 The classification of subjects according to race and type of Myasthenia Gravis (MG).
Race n=subjects / Type of generalized MG (%)EOMG / LOMG / SN / Thymoma
Black MG (n=30) / 16 (53) / 7 (23) / 3 (10) / 4 (13)
M/A MG (n=73)* / 48 (66) / 11 (15) / 11 (15) / 1 (1)
White MG (n=34) / 9 (26) / 12 (35) / 6 (18) / 7 (21)
Legend: Table S1
*2 patient with pure ocular MG not tabulated. EOMG=early-onset MG (≤45 years); LOMG=late-onset MG (≥ 46 years); SN=seronegative MG; Thymoma-associated MG.
Table S2 The DAF 5` regulatory region A-insert SNP (c.-244_-243insA) in South African subpopulations (rs28371585).
Race / -/- / A/- / A/A
Black / MG / 30 / 11 (36.6) / 48 / 10 / 1
Control / 48 / 23 (47.9) / 45 / 20 / 3
M/A / MG / 73 / 16 (21.9) / 67 / 11 / 5
Control / 84 / 26 (31.0) / 78 / 20 / 6
White / MG / 34 / 1 (2.9) / 67 / 1 / 0
Control / 35 / 1 (2.9) / 71 / 1 / 0
Legend Table 2: *pX2=0.085; **pX2=0.199. The A-insert (c.-244_-243insA) was found amongst 35% of African-American controls (n=23) and not amongst any European controls (n=23) (http://www.ncbi.nlm.nih.gov/SNP).
Figure S1: The distribution of extra-ocular muscle dysfunction in myasthenic individuals self-categorized by race.
Legend Figure 1:
The number of subjects who have paresis or dysfunction of extracoular muscles (EOM) at rest (1-12), with or without ptosis. Fatiguable paresis of EOM is not considered. Those subjects with paresis of ≥ 9-12 EOMs also had bilateral ptosis at rest and those with paresis of 5-8 EOMs had at least unilateral ptosis at rest. Of those with no EOM paresis, five had uniocular ptosis and 2 bilateral ptosis at rest.
African-ancest. refers to those subjects with indigenous African genetic ancestry (Black or Mixed-ancestry) whereas Whites have European ancestors (as per self-classification).