A PILOT STUDY OF ANXA2, MED12, CALM1 AND MAPK1 GENE VARIANTS IN PRIMARY HYPERPARATHYROIDISM
Chorti A#1, Achilla C#2, Siasiaridis A2, Aristeidis I1, Cheva A3, Theodosios Papavramidis T##1, Chatzikyriakidou A##*2,4
*Corresponding Author: *Corresponding Author: Anthoula Chatzikyriakidou, Laboratory of Medical Biology - Genetics, Faculty of Medicine, School of Health Sciences, Aristotle University, 54124, Thessaloniki, Greece. Tel: +30 2310999013, Email: chatzikyra@auth.gr
page: 33

RESULTS

The study group mainly included female PHPT pa- tients, which can be excused by the female preponderance of the primary PHPT adenoma [19]. Three variants (ANXA2: rs17191344, rs11633032, MAPK1: rs1057519911) were found to be monomorphic for the wild-type alleles in both patients and controls. Additionally, the genotype distribution of the MED12 rs1057519912 variant did not differ between PHPT pa- tients and controls, with 2 patients and 2 control subjects being heterozygous. As a result, these four variants were not included in further statistical analyses. The genotypic distribution of ANXA2 rs7170178 and CALM1 rs12885713 variants in PHPT patients and controls is displayed in Table 2. The distribution of genotypes was in line with Hardy-Weinberg equilibrium in the control group. No statistically significant different distributions of rs7170178 and rs12885713 genotypes or alleles were found between PHPT patients and controls (Table 2).



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