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Table 1 Definitions for estimating the probability of genetic susceptibility – P(G)

From: The nature of genetic susceptibility to multiple sclerosis: constraining the possibilities

Assume a population (P) of (n) individuals: (i = 1,2,…,n)

P(MS)

=

The life-time probability of developing multiple sclerosis (MS) in the population

(G i )

=

Genotype of the (ith) individual in the population

P(MS│G i ) = z i

=

Expected life-time probability of MS in the (ith) individual (genotype)

(G−)

=

The subset of “non-susceptible” individuals for whom: P(MS│G i ) = 0

(G min )

=

The subset of “minimally susceptible” individuals for whom: 0 < P(MS│G i ) < P(MS)

(G)

=

The subset of “genetically susceptible” individuals for whom: P(MS│G i ) ≥ P(MS)

(G T –)

=

the combined subset: (G min ) (G–)

(G T )

=

the combined subset: (G min ) (G)

Z, X, Y, W,V

=

sets of: {z i }; in the entire population (Z); in the (G) subset (X); in the (G−) subset (Y), in the (G T ) subset (W), and in the (G T –) subset (V)

P(MS│G−), P(MS│G min ), P(MS│G),

=

Expected life-time probability of MS for individuals in the subsets (G−), (G min ), or (G).

By definition: P(MS│G) > P(MS│G min ) > P(MS│G−) = 0

p, q

=

p = P(G); q = P(G│MS) = P(G│IG MS )

x, x’, x i

=

x = P(MS│G); x’ = P(MS│G, IG MS ); x i = P(MS│G i ) given z i ε X

y, y’

=

y = P(MS│G min ); y’ = P(MS│G min , IG MS )

r

=

The largest value of P(MS│G i ) in the population

P(MS│MZ MS )

=

The conditional life-time probability of an individual developing MS, given that their monozygotic (MZ)-twin either has or will develop MS. This is equal to the proband-wise concordance rate for MZ twins.

P(MS│DZ MS ),

P(MS│S MS )

=

The equivalent definition as for P(MS│MZ MS ) except for the individual having either a dizygotic (DZ) twin or sibling (S) with MS

P(MS│IG MS ) = b

=

P(MS│MZ MS ) adjusted for the impact of an identical genotype (IG) sharing the same childhood and intrauterine micro-environments