Table 3 Distribution of diplotypes derived from F5 rs6025 (R534Q) rs4524 (K858R) variants in the combined cases and control population.

From: Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation

Diplotype

Controls

Cases

 

H1

H1

2064 (51%)

1812 (49%)

Reference

H1

H2

146 (4%)

474 (13%)

OR = 2.99 [2.36–3.79]

p = 1.58 10–19

H2

H3

53 (1%)

131 (4%)

OR = 2.36 [1.61–3.45]

p = 1.06 10–5

H2

H2

0

5 (0, 1%)

NA

H1

H3

1545 (38%)

1071 (29%)

OR = 0.78 [0.70–0.88]

p = 5.97 10−5

H3

H3

255 (6%)

178 (5%)

OR = 0.74 [0.58–0.94]

p = 0.013

  1. H1 haplotype refers to the R534/K858 haplotype. H2 haplotype represents the unique haplotype carrying the FVL mutation (Q534/K858). H3 haplotype represents the unique haplotype carrying the rare R858 allele (R534/R858).
  2. Odds Ratios (OR) were adjusted for age, sex and study population.