
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
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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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