Determination of the association between the C677T and A1298C polymorphisms of the MTHFR gene and the development risk of azoospermia and oligozoospermia in Turkish infertile men

Amaç: Bu çalışmada, non-obstrüktif azospermik ve şiddetli oligospermik infertil Türk erkeklerinde açıklanamayan infertilite ile MTHFR -677C/T (rs1801133) ve -1298A/C (rs1801131) gen polimorfizmleri arasındaki ilişkinin araştırılmasını amaçladık. Gereç ve Yöntem: Çalışma grubu, non-obstrüktif azospermik 50 hasta, şiddetli azospermik 50 hasta ve sperm parametreleri normal olup birden fazla çocuğu olan sağlıklı 50 bireyden oluşmaktadır. Genotipleme, realtime PCR sonrası erime eğrisi analizi ile gerçekleştirilmiştir. Bulgular: 677CC genotipinin dağılımı kontrol grubunda infertil gruptan belirgin olarak daha yüksek saptanmıştı(p=0.046). İnfertil hasta grubunda polimorfik T alel frekansı kontrol grubundan daha yüksektir (p=0.015). A1298C genotipi için ise infertil grup ve kontrol grubu arasında frekans ve alelik dağılım açısından herhangi farklılık saptanmamıştır. Sonuç: MTHFR 677TT genotipi özellikle oligospermli ve non-obstrüktif azospermli grupta açıklanamayan erkek infertilitesi için genetik risk faktörüdür.

İnfertil Türk erkeklerinde MTHFR genindeki C677T ve A1298C polimorfizmlerinin azosperm ve oligosperm gelişim riski üzerindeki etkisinin araştırılması

Aim: We aimed to investigate the relationship between unexplained male infertility, and the -677C/T (rs1801133) and -1298A/C (rs1801131) polymorphisms of the MTHFR gene in a group of Turkish infertile men with non-obstructive azoospermia and severe oligozoospermia in this study. Materials and Methods: Study group includes 50 non-obstructive azoospermic patients, 50 severe oligospermic patients and 50 healthy controls with normal sperm parameters who had had more than one child. Genotyping was performed by generated amplicons from melting curve analysis after real time PCR. Results: The distribution of the 677CC genotype was significantly higher in the control group than the infertile group (p= 0.046). There was a significant frequency of the polymorphic T allele in infertile patients higher than the control group (p=0.015). Neither the frequency, nor the allelic distribution of A1298C genotype was different between infertile groups compared with the control. Conclusions: The MTHFR 677TT genotype is a genetic risk factor for unexplained male infertility, especially in the

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  • 1. Ebisch IM, Pierik FH, De Jong FH, Thomas CMG, Steegers-Theunissen RPM. Does folic acid and zinc sulphate intervention affect endocrine parameters and sperm characteristics in men? International Journal Of Andrology 2006;29(2):339 -45.
  • 2. Ebisch IMW, Thomas CMG, Peters WHM, Braat DDM, Steegers-Theunissen RPM. The importance of folate, zinc and antioxidants in the pathogenesis and prevention of subfertility. Human Reproduction 2007;13(2):163-74.
  • 3. Seshagiri PB. Molecular insights into the causes of male infertility. J Biosci 2001;26(4 Suppl):429-35.
  • 4. Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reproductive Toxicology 2006;22(2):133-41.
  • 5. De Kretser DM. Male infertility. Lancet 1997;349(9054):787-90.
  • 6. Dohle GR, Halley DJJ, Van Hemel JO, Van Den Ouwel AMW, Pieters MHEC, Weber RFA. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Human Reproduction 2002;17(1):13-6.
  • 7. Han-Chul Lee, Yu-Mi Jeong, Sook Hwan Lee, et al. Association study of four polymorphisims in three folate-related enzyme genes with non-obstructive male infertility. Human Reproduction 2006;21(12):3162-70.
  • 8. Varinderpal SD, Mohd S, Syed AH. Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men. Mol Human Reprod 2007;13(4):213-22.
  • 9. Peng F, Labelle LA, Rainey B, Tsongalis GJ. Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene are common in US Caucasian and Hispanic American populations. Int J Mol Med 2001;8(5):509-11.
  • 10. Botto N, Andreassi MG, Manfredi S, et al. Genetic polymorphisms in folate and homocysteine metabolism as risk factors for DNA damage. European Journal of Human Genetics 2003;11(9):671-8.
  • 11. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AGA. Quantitative assessment of plasma homocysteine as a risk factor for vascular disease. JAMA 1995;274(13):1049-1057.
  • 12. Fletcher O, Kessling AM. MTHFR association with arteriosclerotic vascular disease? Hum Genet 1998;103(1):11-21.
  • 13. Gos M, Szpecht-Potocka A. Genetic basis of neural tube defects. II. Genes correlated with folate and methionine. J Appl Genet 2002;43(4):511-52.
  • 14. Singh K, Singh SK, Sah R, Singh I, Raman R. Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population. Int J Androl 2005; 28(2):115-9.
  • 15. Zhou-Cun A, Yang Y, Zhang S-Z, Li N, Zhang W. Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia. Asian J Androl 2007;9(1):57-62.
  • 16. Chambers JC, Kooner JS. Homocysteine: A novel risk factor for coronary heart disease in UK. Indian Asians Heart 2001;86(2):121-2.
  • 17. Goyette P, Pai A, Milos R, Frosst P, et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mammalian Genome 1998;9(8):652-6.
  • 18. Narayanan S, Mcconnell J, Little J, et al. Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (strand breaks, misincorporated uracil, and DNA methylation status) in human lymphocites in vivo. Cancer Epidemiol Biomarkers Prev 2004;13(9):1436-43.
  • 19. Kelly TL, Neaga OR, Schwahn BC, Rozen R, Trasler JM. Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)- eficient male mice is partially alleviated by lifetime dietary betaine supplementation. Bıology Of Reproductıon 2005;72(3):667- 77.
  • 20. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: A common mutation methylenetetrahydrofolate reductase. Nat Genet 1995;10(1):111-3.
  • 21. Devi RRA, Govindaiah V, Ramakrishna G, Naushad SM. Prevalence of methylenetetrahydrofolate reductase polymorphism in South Indian population. Current Science 2004;86(4):440-3.
  • 22. Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl J Med 2001;344(15):1172-3.
  • 23. Lee HC, Jeong YM, Lee SH, et al. Association study of four polymorphisms in three folate-related enzyme genes with non- obstructive male infertility. Human Reproduction 2006;21(12):3162-70.
  • 24. Park JH, Lee HC, Jeong YM, et al. MTHFR C677T polymorphism associates with unexplained infertile male factors. J Assist Reprod Genet 2005;22(9-10):361-8.
  • 25. Stuppia L, Gatta V, Scarciolla O, et al. The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Invest 2003;26(7):620-2.
Ege Tıp Dergisi-Cover
  • ISSN: 1016-9113
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1962
  • Yayıncı: Ersin HACIOĞLU
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