Clinical Study

MCP-1 A/G Single Nucleotide Polymorphism in Slovak Patients with Systemic Sclerosis

Table 3

Genotype, allele, and phenotype (carriage rates) frequencies of the MCP-1 −2518 SNP in the subgroups of patients with systemic sclerosis (SSc) according to the particular clinical manifestation of the disease (diffuse versus limited form, presence versus absence of lung or gastrointestinal (GI) involvements).

FrequencyGenotypeAllelePhenotype
AAAGGGAGAG

Diffuse SSc ( )66.7 (6)11.1 (1)22.2 (2)72.2 (13)27.8 (5)77.8 (7)33.3 (3)
Limited SSc ( )62.9 (22)31.4 (11)5.7 (2)78.6 (55)21.4 (15)94.3 (33)37.1 (13)

Lung involvement ( )57.6 (19)30.3 (10)12.1 (4)72.7 (48)27.3 (18)87.9 (29)42.4 (14)
Without lung involvement ( )76.9 (10)23.1 (3)0.0 (0)88.5 (23)11.5 (3)1.0 (13)23.1 (3)

GI involvement ( )68.4 (13)10.5 (2)21.1 (4)73.7 (28)26.3 (10)78.9 (15)31.6 (6)
Without GI involvement ( )59.3 (16)40.7 (11)0.0 (0)79.6 (43)20.4 (11)1.0 (27)40.7 (11)

Data are given as proportions (%) of particular genotype/allele/phenotype with their absolute number in parentheses. for diffuse versus limited form of SSc and presence versus absence of lung or gastrointestinal (GI) involvements.