The relationship between the variants in the 5′-untranslated regions of equine chorionic gonadotropin genes and serum equine chorionic gonadotropin levels

OBJECTIVE: An experiment was conducted to study the association between the single nucleotide polymorphisms (SNPs) in 5′-untranslated regions (5′-UTR) of equine chorionic gonadotropin (eCG) genes and the serum eCG levels. METHODS: SNPs in 5′-UTR of eCG genes were screened across 10 horse breeds, including 7 Chinese indigenous breeds and 3 imported breeds using iPLEX chemistry, and the association between the serum eCG levels of 174 pregnant Da’an mares and their serum eCG levels (determined with ELISA) was analyzed. RESULTS: Four SNPs were identified in the 5′-UTR of the eCGα gene, and one of them was unique in the indigenous breeds. There were 2 SNPs detected at the 5′ end of the eCGβ subunit gene, and one of them was only found in the Chinese breeds. The SNP g.39948246T>C at the 5′-UTR of eCGα was associated significantly with eCG levels of 75-day pregnant mare serum (p<0.05) in Da’an mares. Prediction analysis on binding sites of transcription factors showed that the g.39948246T>C mutation causes appearance of the specific binding site of hepatocyte nuclear factor 3 forkhead homolog 2 (HFH-2), which is a transcriptional repressor belonging to the forkhead protein family of transcription factors. CONCLUSION: The SNP g.39948246T>C at the 5′-UTR of eCGα is associated with eCG levels of 75-day pregnant mare serum (p<0.05).