Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is associated with abortion in Chinese Holstein cows

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.

Imaging and genetic investigations of neural tube defect in a calf: case report and review of the literature

“…Our results for exon 4 are in agreement with previous investigations. 12 Regarding the mutation in exon 7, a C/T polymorphism has been reported in Holstein cows in China 12 in position 1484 (NM_001011685.1), corresponding to position 1308 in the human sequence, whereas no polymorphism was found at nucleotide 1474 (NM_001011685.1), corresponding to 1298 in the human sequence.…”

“…In order to exclude, as reported in human medicine, 1,4,10 correlation of the malformations with deficiency of methylenetetrahydrofolate reductase (MTHFR), and subsequently of folate, further genetic investigation was carried out based on a previous study. 12 A muscle sample of the calf was taken during autopsy and stored at −80°C; a muscle sample of the dam was also collected at slaughter. Genomic DNA was obtained from muscle (NucleoSpin tissue kit, Macherey-Nagel, Düren, Germany) according to the manufacturer’s protocol.…”

“…The primer set reported previously was used to amplify a fragment of MTHFR exon 4. 12 The primers for exon 7, designed on the bovine genomic sequence AC_000173.1, were TGGAGGC CATTGTCTGGAGTAT (forward) and CGAGAGG TAGTGGGCAAAGA (reverse). Real-time PCR reactions were performed in 25-μL volumes consisting of 0.03 U/μL of HotStarTaq DNA polymerase (Qiagen, Hilden, Germany), 0.2 mM each of deoxyribonucleotide triphosphate, 0.5 μM of each primer, and 50-100 ng of DNA template.…”

“…16 It has been proposed that MTHFR polymorphism exists in Holstein cattle, and that one of these genotypes is associated with a higher risk of abortion and higher homocysteine plasma concentration during pregnancy. 12 Further studies are needed to better understand the role of this mutation and resulting hyperhomocysteinemia in the development of neural tube defects. Results of genetic investigation for the presence of MTHFR polymorphism in both the calf and the dam in our case were negative.…”