Abstract
Polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are associated with abortion, early embryo loss and recurrent spontaneous abortion in human. However, information on the association between MTHFR polymorphism and cow abortion is scarce. In the present study, the effects of MTHFR polymorphism on cow abortion were investigated. The PCR-SSCP and DNA sequencing were applied to detect the polymorphisms in exon 4 and 7 of MTHFR gene in a total of 569 Chinese Holstein cattles. The homocysteine levels during various periods of pregnancy were detected by HPLC. The results show that 8137C/T SNP was identified in exon 7 of MTHFR, but no polymorphism was detected in exon 4. Association analysis revealed that the 8137C/T mutation was significantly associated with cow abortion (P = 0.0002). Regarding relative risk of incidence, cows with CT genotype showed greater relative risk than those with CC (OR = 2.05, 95% CI = 1.40 to 3.00). The blood homocysteine levels of individuals with CT genotype were significantly higher than those with CC genotype during the first 6 months of pregnancy and in non-pregnant cows (P < 0.05). In conclusion, MTHFR may be a beneficial candidate gene to control cow abortion. Key words: Methylenetetrahydrofolate reductase (MTHFR), abortion, Chinese Holstein cattle, SNP.
Highlights
The abortion rate often exceeds 14% in some cattle herds (Thurmond et al, 1990), which is an important cause of reproductive wastage and economic loss
The results show that 8137C/T SNP was identified in exon 7 of methylenetetrahydrofolate reductase (MTHFR), but no polymorphism was detected in exon 4
Association analysis revealed that the 8137C/T mutation was significantly associated with cow abortion (P = 0.0002)
Summary
The abortion rate often exceeds 14% in some cattle herds (Thurmond et al, 1990), which is an important cause of reproductive wastage and economic loss. The 5,10-methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate and homocysteine metabolism (Klerk et al, 2002). MTHFR mutation elevated homocysteine level in the blood, and increased risk of abortion and recurrent spontaneous abortion by 2 to 3-fold (Nelen et al, 2000). It has been reported that the homocysteine is a risk factor of abortion and recurrent spontaneous abortion (Blanco et al, 1998; Nelen et al, 2000). Deficiency of MTHFR enzyme results in deficiency of DNA and protein methylation which is necessary for fetal development, and increases the concentration of plasma cysteine which would develop into hyperhomocysteinaemia in the end (Blanco et al, 1998; Suormala et al, 2002). For the multiple function of MTHFR, the present study aimed to identify exons 4 and 7 polymorphisms of MTHFR in 569 Chinese Holstein cattle, and to analyze their associations with abortion and homocysteine level
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