Melanocortin 2 Receptor Mutations and Clinical Significance in Case of Cushing Syndrome and Subclinical Cushing Syndrome and Primary Aldosteronism

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akkuş G. , Yildiz Ş. S. , KOCAMAZ D. , EVRAN M. , SERT M. , Tetiker T.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, cilt.18, ss.259-266, 2018 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 18 Konu: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.31901/24566330.2018/18.4.707
  • Sayfa Sayıları: ss.259-266


The researchers investigated whether single nucleotide polymorphisms (SNPs) of.M2CR were associated with the development of adrenocortical diseases including cushing syndrome (CS), subclinical cushing syndrome (SCS) and primary aldosteronism (PA) in Turkish population. Two promoter SNPs [rs1893219 (853A/G) and rs1893220 (759 G/T)J were genotyped in 43 patients with adrenal adenomas. All patients were examined hormonally with dynamic tests. While 22 of the patients had non-functional (NF) adrenal adenomas; 21 of the patients (CS-9, SCS =10, PA =2) had functional adrenal adenomas. In rs1893219 the frequencies of the CC (AA) were found to be 2, 3 and 1 patients in CS, SCS and PA, respectively. In rs1893220 the frequencies of the AA (GG) genotype were found to be 2, 1 and 1 patients in CS, SCS and PA. Also, the C allele frequency of rs1893219 was found increased in the patients with functional adenomas. The results have shown that the M2CR gene may contribute to the development of adrenocortical diseases.