Balkan Journal of Medical Genetics

ASSOCIATION OF NFKB1, NKX2-5, GATA4 AND RANKL GENE POLYMORPHISMS WITH SPORADIC CONGENITAL HEART DISEASE IN GREEK PATIENTS
Aidinidou L1, Chatzikyriakidou A1, Giannopoulos A2, Karpa V1, Tzimou I2, Aidinidou E3, Fidani L1,*
*Corresponding Author: Professor Liana Fidani, Department of General Biology, Medical School, Aristotle University of Thessaloniki, University Campus, GR-54124, Thessaloniki, Greece. Tel.: +30- 231-099-9165. Fax: +30-231-099-9019. E-mail: sfidani@auth.gr
page: 15

RESULTS

The association of rs28362491, rs2277923, rs4531631 and rs11785481 polymorphisms are shown in Table 2. The genotype frequencies of the above variants in CHD patients and controls were in HWE. The polymorphism rs28362491 was associated with decreased risk of CHD with the additive [risk per allele RR genotype (homozygosity for the wild-type allele); RV genotype (heterozygosity for the wild-type and non wild-type alleles); VV genotype (homozygosity for non wild-type allele): p = 0.003], homozygous (VV vs. RR: p = 0.001), heterozygous (RV vs. RR: p = 0.040), dominant (RV+VV vs. RR: p = 0.009), recessive (VV vs. RV+RR: p = 0.019) and allelic model (V vs. R: p = 0.006). Also, decreased risk was found with the additive (risk per allele RR, RV, VV: p = 0.004), homozygous (VV vs. RR: p = 0.015), recessive (VV vs. RV+RR: p = 0.004) and allelic model (V vs. R: p = 0.004) for polymorphism rs2277923. Additionally, when the FDR was applied, the association that remained significant concerned both of rs28362491 and rs2277923 variants, according to allelic model (p = 0.012 and p = 0.008, respectively). There was no statistical difference of rs4531631 and rs11785481 polymorphism distribution between the two groups (p >0.05).

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