Association of CYP19A1 gene polymorphisms with anoestrus in water buffaloes
Khairy M. El-Bayomi A , Ayman A. Saleh B J , Ashraf Awad B , Mahmoud S. El-Tarabany A , Hadeel S. El-Qaliouby C , Mohamed Afifi D E , Shymaa El-Komy F , Walaa M. Essawi G , Essam A. Almadaly H and Mohammed A. El-Magd I J
+ Author Affiliations
- Author Affiliations
A Department of Animal Wealth Development, Animal Breeding and Production, Faculty of Veterinary Medicine, Zagazig University, Postal Box 44519, Egypt.
B Department of Animal Wealth Development, Genetics and Genetic Engineering, Faculty of Veterinary Medicine, Zagazig University, Postal Box 44519, Egypt.
C Department of Animal Wealth Development, Animal Breeding and Production, Faculty of Veterinary Medicine, Benha University, Postal Box 13518, Egypt.
D Department of Animal Wealth Development, Biostatistics, Faculty of Veterinary Medicine, Zagazig University, Postal Box 44519, Egypt.
E Department of Health Management, Atlantic Veterinary College, University of Prince Edward Island, Charlottetown, Prince Edward Island, C1A 4P3, Canada.
F Department of Animal Production, Faculty of Agriculture, Postal Box 31527, Tanta University, Egypt.
G Department of Theriogenology, Faculty of Veterinary Medicine, Postal Box 81528 Aswan University.
H Department of Theriogenology, Faculty of Veterinary Medicine, Kafrelsheikh University, Postal Box 33516, Egypt.
I Department of Anatomy and Embryology, Faculty of Veterinary Medicine, Kafrelsheikh University, Postal Box 33516, Egypt.
J Corresponding authors. Emails: mohrizk73@yahoo.com; lateefsaleh@yahoo.com
Reproduction, Fertility and Development 30(3) 487-497 https://doi.org/10.1071/RD16528
Submitted: 7 November 2016 Accepted: 17 July 2017 Published: 17 August 2017
Abstract
Cytochrome P450 aromatase (encoded by the CYP19A1 gene) regulates oestrogen biosynthesis and so plays an essential role in female fertility. We investigated the genetic association of CYP19A1 with the risk of anoestrus in Egyptian water buffaloes. A total of 651 animals (326 anoestrous and 325 cycling) were used in this case-control study. Using single-strand conformation polymorphisms and sequencing, four single nucleotide polymorphisms (SNPs) were detected; c.−135T > C SNP in the 5′UTR and three non-synonymous SNPs: c.559G > A (p. V187M) in Exon 5, c.1285C > T (p. P429S) and c.1394A > G (p. D465G) in Exon 10. Individual SNP-anoestrus association analyses revealed that genotypes (CC, AA and GG) and alleles (C, A and G) of the −135T > C, c.559G > A and c.1394A > G SNPs respectively were high risk for anoestrus. A further analysis confirmed that these three SNPs were in linkage disequilibrium. Additionally, haplotypes with two (TAG/122 and CAA/221) or three (CAG/222) risk alleles were significantly associated with susceptibility to anoestrus, lower blood levels of both oestradiol and antioxidant enzymes (superoxide dismutase, glutathione peroxidase (GPX) and catalase) and downregulated expression levels of CYP19A1, oestrogen receptor α and Gpx3 in the ovary, as well as increased serum level of malondialdehyde. This suggests the occurrence of a high incidence of oxidative ovarian damage and subsequently ovarian inactivity in buffaloes carrying risk alleles. Therefore, with this study we suggest the selection of buffaloes with protective alleles at these SNPs to improve the reproductive efficiency of the herd.
Additional keywords: antioxidant enzymes, oestradiol, oestrogen receptor α, risk alleles.
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