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Two polymorphisms in methylenetetrahydrofolate reductase gene(C677T and A1298C) frequently associated with recurrentspontaneous abortion show no association in Saudi women

引用

BIOCELL 2020年第4期44卷 613-621页

作者： AFRAH alKHURIJI ATEKAH ABDULLAH MOHAMMED alRAQIBAH AMAal AWAD alHARBI ZENEB BABAY fatimah basil al-mukaynizi ARWA alTHOMalI SONYA S.ABDEL-RAZEQ ARJUMAND S.WARSY Department of Zoology College of ScienceKing Saud UniversityRiyadh11451Saudi Arabia Department of Obs/Gyn College of MedicineKing Saud UniversityRiyadh11451Saudi Arabia Prince Naif Bin AbdulAziz Health Research Center(PNHRC) King Saud UniversityRiyadh11451Saudi Arabia Division of Maternal-Fetal Medicine Department of ObstetricsGynecologyand Reproductive SciencesYale University School of MedicineNew Haven06501USA Central Laboratory Center for Science and Medical Studies for GirlsKing Saud UniversityRiyadh11451Saudi Arabia

Methylenetetrahydrofolate reductase(MTHFR)deficiency is the most common genetic cause of hyperhomocysteinemia,which has been implicated in the etiology of recurrent spontaneous abortion(RSA).This study was designed to investigate the association between two single nucleotide polymorphisms(SNP)(rs1801133[C677T]and rs1801131[A1298C])in the MTHFR gene and RSA,in *** two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme,and significantly diverse effects have been reported in relation to the association with *** approval was acquired from the IRB at King Saud University(KKUH),Saudi Arabia,and written informed consent was obtained from each *** study group comprised of 100 Saudi women with unexplained RSA and 100 age-matched controls,both attending KKUH for a routine *** was drawn in EDTA tubes,and DNA was *** was conducted using TaqMan SNP genotyping assay *** frequency of the T allele of C677T was 0.165 in patients and 0.17 in *** frequencies for CC,CT and TT genotypes were 70%,27%and 3%,respectively in RSA,and 71%,24%and 5%,respectively,in the controls(p>0.05).For the A1298C polymorphism,the C allele frequencies were 0.345 in patients and 0.28 in controls,while genotype frequencies for AA,AC and CC genotypes were 44%,43%,and 13%,respectively,in patients,and 54%,36%,and 10%,respectively,in controls(p>0.05).The frequency of CC genotype and C allele of A1298C were higher in the patients with RSA,but not significantly,while C677T genotypes and allele frequencies did not differ between patients and *** results suggested that MTHFR gene polymorphisms are population-specific and may not associate with RSA in Saudi women.

关键词： MTHFR RSA Single nucleotide polymorphism Hyperhomocystenemia

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