Frequency of HFE gene variants in Polish HIV infected and HIV/HCV co-infected patients

Background: The HFE gene mutations play a significant role in the development of hereditary hemochromatosis, which is a disorder of iron metabolism characterised by tissue iron overload. It is also one of the most common genetic diseases among Caucasians. Material and methods: In the current study, the frequencies of common single nucleotide polymorphisms in HFE gene [845G. A (C282Y) and 187C. G (H63D)] were estimated in a group of 409 HIV-infected individuals of Caucasian origin from Poland, from which 243 were also HCV-coinfected. TaqMan Real-Time SNP genotyping was performed to screen for the variants. HFE haplotypes and linkage disequilibrium was analysed by the CubeX online tool. Results: Frequencies of compound HFE genotypes in the studied population were as follows: 845(GG)-187(CC) -63.8% (n = 261), 845(GG)-187(CG) -25.7% (n = 105), 845(GG)-187(GG) -3.4% (n = 14), 845(GA)-187(CC) -5.6% (n = 23), 845(GA)-187(CG) -1.2% (n = 5) and 845(AA)-187(CC) -0.2% (n = 1). The allele frequencies in HIV-monoinfected were: 845(G) -95.9%, 845(A) -4.1%, 187(C) -81.7%, 187(G) 18.3% and in HIV/ HCV-coinfected: 845(G) -97.0%, 845(A) -3.8%, 187(C) -85.2%, 187(G) -14.8%. Conclusion: Presence of mutations in the HFE gene in the Polish HIV/ HCV infected population is similar to those reported for other Caucasian populations. This applies both to the C282Y and H63D variants, although in the second case, recessive allele G appeared numerically more commonly than among other populations tested. (C) 2014 Polish AIDS Research Society. Published by Elsevier Urban & Partner Sp. z o. o. All rights reserved.