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Abstract In this work, association between Interleukin-6 (IL-6) and transforming growth factor (TGF-β1) single-nucleotide polymorphisms (SNPs) and the susceptibility to PCOS and their implication on plasma levels was studied. We genotyped IL-6 −174G/C using Mutagenically Separated Polymerase Chain Reaction PCR (MS-PCR) and TGF-β1 +869T/C and +915G/C using Sequence Specific Primer PCR (SSP-PCR) in 61 PCOS Egyptian patients and 80 controls. The plasma levels of IL-6 and TGF-β1 were measured using Enzyme-linked Immunosorbent Assay (ELISA). Significant increase in the frequency of IL-6 (-174G/C) CC (p<0.001, OR =26.89), GC (p<0.01, OR= 4.32) genotypes and C allele (p<0.001, OR= 5.6) was demonstrated in PCOS patients compared to controls. Genotyping of TGF-β1 (+869T/C) showed insignificant change in the distribution of all genotypes and alleles between control and patients. Significant increase in the frequency of TGF-β1 (+915G/C) GC genotype (p<0.001, OR= 5.04) and C allele (p<0.001, OR= 4.26) was demonstrated in PCOS patients compared to controls. PCOS patients had significantly higher level of IL-6 (p<0.01) and significantly lower level of TGF-β1 (p<0.001) compared to controls. The mean plasma concentration of IL-6 level in PCOS was significantly increased in both GC and CC (p<0.001) genotypes while TGF-β1 was significantly increased in PCOS patients having CC genotype in TGF-β1 (+869T/C and +915G/C). In conclusion, our preliminary findings showed a significant statistical association between the polymorphisms of TGF-β1 (+915G/C) and IL-6 (-174G/C) and PCOS risk. To the best of our knowledge, this is the first study regarding the association between IL-6 and TGF-β1 polymorphisms and PCOS susceptibility in Egyptians. |