Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Fifty unrelated patients with primary hyperparathy- roidism (PHPT) (2 males and 48 females, 56.1 ± 13.9 years) and an equal number of ethnically matched healthy volunteers (8 males and 42 females, 50.6 ± 18.4 years) were recruited for the study. The diagnosis of PHPT was confirmed by the elevated levels of parathyroid hormone (PTH) and calcium in blood serum, as well as through imaging methods such as sonography, 99mTc-sestamibi scintigraphy, and 4D-CT validated by histological exami- nations [16]. The control group had no personal or family history of chronic autoimmune or neoplastic diseases. Since this study on the association of the studied vari- ants with PHPT was conducted for the first time, it was not possible to determine the standardized effect size to be used before the pilot trial. Therefore, the sample size was calculated with a 90% confidence level and a pro babi lity of 0.05 [17] following the suggested standards for pilot studies [18]. The study protocol was approved by the Ethics Committees of the Aristotle University of Thessaloniki, and written informed consent was obtained from each patient. Genomic DNA was extracted from peripheral blood lymphocytes using the PureLink Genomic DNA Kit (Inv- itrogen) following the manufacturer’s protocol. The sam- ples were genotyped using the polymerase chain reaction - restriction fragment-length polymorphism (PCR-RFLP) assay. The primer pairs used for amplification of each region are shown in Table 1. Amplified fragments were then digested with appropriate restriction enzymes (New England Biolabs - Table 1), following the manufacturer’s instructions, and visualized after electrophoresis on 3% agarose. All samples were run twice using RFLP analysis confirming the credibility of the results. This methodology is both time- and cost-saving for a pilot study like the pre-sent one. However, other genotyping methods can be uti- lized in subsequent larger-scale studies if the results of the present study indicate the feasibility of such an approach. Pearson’s chi‐square test was used to examine possible de- viations of genotype distributions from the Hardy-Weinberg equilibrium (HWE) in the control group. Differences in variant distribution between PHPT patients and controls were tested under six models of genetic association: ho- mozygote, heterozygote, dominant, recessive, allelic, and additive using Pearson’s chi‐square test. Fisher’s exact test was used when expected values were less than 5. Additio nally, the odds ratio (OR) with a 95% confidence interval (CI) was calculated (reference allele vs variant allele). A difference at p ≤ 0.05 was considered statistically significant in all statistical tests. All analyses were performed using the SPSS statistical package (SPSS Inc.).

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