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. 2012 Dec 18;7(12):e47875. doi: 10.1371/journal.pone.0047875

Table 1. Model definitions* .

P(MS)  =  The life-time probability of developing MS in the general population.[equated to the prevalence of the disease]
(G) , (G–)  =  Sets of persons who either are (G) or are not (G–) genetically susceptible to MS
(G1) , (G2)  =  Two mutually exclusive subsets of (G); one consisting of high-penetrance genotypes (G1) and the other consisting of low-penetrance genotypes (G2). (G1) + (G2)  =  (G)
(G0) , (G3)  =  Mutually exclusive sets of genetically susceptible individuals who depend upon (G0) or don’t depend upon (G3) environmental events to get MS. (G0) + (G3)  =  (G)
P(MS|G–)  =  Penetrance of the least penetrant genotype in the population
P(MS|Gi)  =  Penetrance of the ith genotype in the set (G)
P(MS|G)  =  Expected penetrance of the set (G) ; P(MS|G)  =  E{P(MS|Gi)}
σzi 2  =  Penetrance Variance within the set (G) ; σzi2  =  Var(Gi)
P(MS|IGMS)  =  b  =  the conditional life-time probability of developing a MS, given that the person’s MZ-twin has MS; adjusted to exclude the impact of twins sharing intra-uterine (IU) and childhood (CH) environments.
(MZMS) , (DZMS) , (SMS)  =  Sets of persons with a monozygotic (MZ)-twin, a dizygotic (DZ)-twin, or a sibling (S) who either has or will develop MS.
(IU) , (CH)  =  Sets of persons who share, with an MS-proband, either the same intra-uterine (IU) or a similar childhood (CH) environment
(E) , (E–)  =  Sets of persons who either do (E) or do not (E–) experience a sufficient environmental exposure to produce MS (see Section B)
(FT) , (ST)  =  The sets of first (FT) or second (ST) twins of an MZ-twin pair
(Gx+) , (Gx–)  =  The set of persons who either possess (Gx+) or don’t possess (Gx–) the particular genetic characteristic (Gx).
(HLA+) , (HLA–)  =  The set of persons who either carry (HLA+) or don’t carry (HLA–) at least one HLA DRB1*1501 allele. (HLA+)  =  (2HB+) + (1HB+)
(1HB+) , (2HB+)  =  The sets of persons who carry one (1HB+) or two (2HB+) copies of the DRB1*1501 allele.
(1HB–)  =  The set of persons who carry one copy of a non-DRB1*1501 alleleInline graphic ; Inline graphic
(F) , (M)  =  Sets consisting of either women (F) or men (M)
a , a’  =  P(MS, G) / P(G1)  =  a ; and: P(MS, G) / P(G2)  =  a’
b , b’  =  P(MS|IGMS)  =  b ; and: P(MS|G, IGMS)  =  b’
x  =  P(MS|G1)  =  Expected Penetrance of the high-penetrance subset
y  =  P(MS|G2)  =  Expected Penetrance of the low-penetrance subset
z  =  P(MS|G)  =  Expected Penetrance for the entire set (G)
zt , zs  =  P(MS|G, Gx+)  =  zt ; and: P(MS|G, Gx–)  =  zs
t  =  P(MS|Gx+, IGMS)  =  P(MS, G|Gx+, IGMS)
t’  =  P(MS|G, Gx+, IGMS)
s  =  P(MS|Gx–, IGMS)  =  P(MS, G|Gx–, IGMS)
s’  =  P(MS|G, Gx–, IGMS)
p  =  P(G1|G)  =  P(G1, G) / P(G)  =  P(G1) / P(G) ; (G1) ⊂ (G)
g  =  P(G|MS)  =  P(G|IGMS)
g1  =  P(G|Gx+, MS)  =  P(G|Gx+, IGMS)
g2  =  P(G|Gx–, MS)  =  P(G|Gx–, IGMS)
A0  =  P(Gx+)
A  =  P(Gx+|MS)  =  P(Gx+|IGMS)
MAF  =  Mean allelic frequency – defined as the frequency of an “allelic state”{e.g., the “(HLA–) allele” at the DRB1 gene  =  one “non-1501” allele}
HWE  =  Hardy-Weinberg Equilibrium
*

See Appendix S1 (Section A) for additional model definitions.