Balkan Journal of Medical Genetics

DETECTION OF MUTATIONS IN THE CYP21A2 GENE: GENOTYPE-PHENOTYPE CORRELATION IN SLOVENIAN COUPLES WITH CONCEIVING PROBLEMS
Stangler Herodež Š1,*, Fijavž L2, Zagradišnik B1, Kokalj Vokač N1,2
*Corresponding Author: Dr. Špela Stangler Herodež, Laboratory of Medical Genetics, University Clinical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia. Tel: +386-2-321-27-37. Fax: +386-2-321-27-55. E-mail: spela.sh@ukc-mb.si
page: 25

RESULTS

We analyzed 319 couples, a total of 638 individuals (average age 32.9 years, median age 33 years), 319 females (average and median age 32 years, range 21-44 years) and 319 males (average age 33.8 years, median age 34 years, range 23-44 years). The control group included 200 healthy blood donors (average and median age 43 years), 100 females (average and median age 42 years, range 27-66 years) and 100 males (average and median age 44 years, range 21- 71 years) (Table 1). For female probands, significant clinical parameters, biochemical parameters and the simultaneous presence of: a thyroid disease, increased BMI, an autoimmune disease, PCOS, conditions related to the concentration of sex hormones and conditions related to the concentration of progesterone, were determined. Number and proportions of female probands with the deviation of laboratory parameters from the reference value and the presence of the clinical indicators are presented in Table 2. From Table 2, we can see that in the study group the proportion of females with the irregularities within the concentration of hormones (12.5%) stand out. At the same time, the smallest proportion belongs to the females with the deviation of 17-OHP in serum (0.9%). The c.290-13A/ C>G, p.I172N, p.P30L and p.V281L mutation frequencies were compared between probands and controls. There were no significant differences in mutation frequencies for all four mutations (χ2 = 2.167, p = 0.141). Results are presented in Table 3. Additionally, the c.290-13A/C>G, p.I172N, p.P30L and p.V281L mutation frequencies were compared between male and female probands. There were no significant differences in mutation frequencies for all four mutations (χ2 = 2.254, p = 0.324) (Table 4). The possible impact of most common mutations in the CYP21A2 gene on clinical and laboratory parameters were determined by the ANOVA test for the whole group and separately, only for female individuals. The ANOVA test showed no effect of mutations on laboratory parameters for the female group of individuals. For the analysis of the impact of mutations on the presence of clinical parameters, association analysis for the statistical processing of using data was used (Table 5). We found a statistically significant association between clinical indicator for irregularities within the concentration of hormones and the p.V281L mutation (χ2 = 6.997, p = 0.008) (see Table 5). We have also found a statistically significant association between the PCOS and the p.V281L mutation (χ2 = 16.775, p = 0.000) (see Table 5). In the case of other clinical indicators, we did not find a statistically significant correlation with the studied mutations.

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