Fig. 2.

a) Association between morphological phenotypes and combined genotypes. The proportion of each combined genotype with either trunk phenotype (red), perforator phenotype (blue) or both (purple). Trunk phenotype increases from CC to TT genotypes at c. 677C>T, while perforator phenotype increases from AA to CC genotypes at c.1298A>C. The weak association between homozygous wildtype (AA) genotype at c.1298A>C and trunk phenotype can be seen in the combined genotype CCAA. We would expect to see more subjects with both phenotypes, however, there are fewer subjects with the perforator phenotype, and more with the trunk phenotype than we would expect. Similarly, for the TTAA genotype there are more incidences of both phenotypes than we would expect. When both genotypes are heterozygous, the patient is more likely to present with both phenotypes.

b) Association between unclear phenotypes and combined genotypes. The proportion of each combined genotype with either trunk phenotype (red), perforator phenotype (blue), combined (both) phenotype (purple) or an unclear phenotype (ivory). The unclear phenotype is associated with a homozygous wildtype genotype (CC) at c.677C>T.

c) Association between CEAP C3–6 complication and combined genotype. Only the homozygous mutant genotype (CC) at c.1298A>C is significantly associated with CEAP C3–6. The risk of a CEAP C3–6 complication increases from AA to CC genotype at c.1298A>C. This would additionally suggest that the perforator phenotype is associated with CEAP C3–6.

d) Association of CEAP C3–6 complication, recurrence, or varicothrombosis with combined genotypes. Green shades indicate at least two complications. Brown shades indicate a single complication, while cream indicates no complication.