Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

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• 作者：Wuhua Ni (1)
  Haiyan Li (3)
  Aihua Wu (2)
  Peili Zhang (2)
  Haiyan Yang (1)
  Xu Yang (1)
  Xuefeng Huang (1)
  Lei Jiang (2)
  
  1. Reproductive Medicine Center ; The First Affiliated Hospital of Wenzhou Medical College ; Wenzhou ; Zhejiang ; 325000 ; China
  3. Huzhou Maternity & Child Health Care Hospital ; Huzhou ; China
  2. Laboratory of Internal Medicine ; The First Affiliated Hospital of Wenzhou Medical College ; Wenzhou ; Zhejiang ; 325000 ; China
  
• 关键词：Male infertility ; Single nucleotide polymorphisms ; MTHFR ; MTR ; MTRR
• 刊名：Journal of Assisted Reproduction and Genetics
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：32
• 期：3
• 页码：369-374
• 全文大小：194 KB
• 参考文献：1. Lu, C, Zhang, J, Li, Y, Xia, Y, Zhang, F, Wu, B (2009) The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet 18: pp. 1122-30 CrossRef
  2. Patrizio, P, Leonard, DG, Chen, KL, Hernandez-Ayup, S, Trounson, AO (2001) Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia. J Androl 22: pp. 444-8
  3. Ferlin, A, Raicu, F, Gatta, V, Zuccarello, D, Palka, G, Foresta, C (2007) Male infertility: role of genetic background. Reprod BioMed Online 14: pp. 734-45 CrossRef
  4. Shamsi, MB, Kumar, K, Dada, R (2011) Genetic and epigenetic factors: Role in male infertility. Indian J Urol IJU J Urol Soc India 27: pp. 110-20 CrossRef
  5. Chen, H, Pu, XY, Zhang, RP, A, ZC (2014) Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia. J Assist Reprod Genet.
  6. Crider, KS, Yang, TP, Berry, RJ, Bailey, LB (2012) Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate鈥檚 role. Adv Nutr 3: pp. 21-38 CrossRef
  7. Fowler, B (2005) Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med 5: pp. 77-86 CrossRef
  8. Kelly, TL, Neaga, OR, Schwahn, BC, Rozen, R, Trasler, JM (2005) Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation. Biol Reprod 72: pp. 667-77 CrossRef
  9. Boxmeer, JC, Smit, M, Utomo, E, Romijn, JC, Eijkemans, MJ, Lindemans, J (2009) Low folate in seminal plasma is associated with increased sperm DNA damage. Fertil Steril 92: pp. 548-56 CrossRef
  10. Goyette, P, Pai, A, Milos, R, Frosst, P, Tran, P, Chen, Z (1998) Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome Off J Int Mamm Genome Soc 9: pp. 652-6 CrossRef
  11. Shen, O, Liu, R, Wu, W, Yu, L, Wang, X (2012) Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis. Ann Hum Genet 76: pp. 25-32 CrossRef
  12. Neto, AI, Moura, JR, Persuhn, DC (2013) Frequency of MTHFR G1793A polymorphism in individuals with early coronary artery disease: cross-sectional study. Sao Paulo Med J Rev Paul Med 131: pp. 296-300 CrossRef
  13. Lee, HC, Jeong, YM, Lee, SH, Cha, KY, Song, SH, Kim, NK (2006) Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility. Hum Reprod 21: pp. 3162-70 CrossRef
  14. Matsuo, K, Suzuki, R, Hamajima, N, Ogura, M, Kagami, Y, Taji, H (2001) Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma. Blood 97: pp. 3205-9 CrossRef
  15. Gaughan, DJ, Kluijtmans, LA, Barbaux, S, McMaster, D, Young, IS, Yarnell, JW (2001) The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis 157: pp. 451-6 CrossRef
  16. Eloualid, A, Abidi, O, Charif, M, Houate, B, Benrahma, H, Louanjli, N (2012) Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One 7: pp. e34111 CrossRef
  17. Gupta, N, Sarkar, S, David, A, Gangwar, PK, Gupta, R, Khanna, G (2013) Significant impact of the MTHFR polymorphisms and haplotypes on male infertility risk. PLoS One 8: pp. e69180 CrossRef
  18. Gupta, N, Gupta, S, Dama, M, David, A, Khanna, G, Khanna, A (2011) Strong association of 677 C>T substitution in the MTHFR gene with male infertility鈥攁 study on an indian population and a meta-analysis. PLoS One 6: pp. e22277 CrossRef
  19. A, ZC, Yang, Y, Zhang, SZ, Li, N, Zhang, W (2007) 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 9: pp. 57-62 CrossRef
  20. Botto, LD, Yang, Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151: pp. 862-77 CrossRef
  21. Ebisch, IM, Heerde, WL, Thomas, CM, Put, N, Wong, WY, Steegers-Theunissen, RP (2003) C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration. Fertil Steril 80: pp. 1190-4 CrossRef
  22. Mfady, DS, Sadiq, MF, Khabour, OF, Fararjeh, AS, Abu-Awad, A, Khader, Y (2014) Associations of variants in MTHFR and MTRR genes with male infertility in the Jordanian population. Gene 536: pp. 40-4 CrossRef
  23. Park, JH, Lee, HC, Jeong, YM, Chung, TG, Kim, HJ, Kim, NK (2005) MTHFR C677T polymorphism associates with unexplained infertile male factors. J Assist Reprod Genet 22: pp. 361-8 CrossRef
  24. Ravel, C, Chantot-Bastaraud, S, Chalmey, C, Barreiro, L, Aknin-Seifer, I, Pfeffer, J (2009) Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One 4: pp. e6540 CrossRef
  25. Singh, K, Singh, SK, Raman, R (2010) MTHFR A1298C polymorphism and idiopathic male infertility. J Postgrad Med 56: pp. 267-9 CrossRef
  26. Singh, K, Singh, SK, Sah, R, Singh, I, Raman, R (2005) Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population. Int J Androl 28: pp. 115-9 CrossRef
  27. Stangler Herodez, S, Zagradisnik, B, Erjavec Skerget, A, Zagorac, A, Takac, I, Vlaisavljevic, V (2013) MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions. Balk J Med Genet BJMG 16: pp. 31-40
  28. Stuppia, L, Gatta, V, Scarciolla, O, Colosimo, A, Guanciali-Franchi, P, Calabrese, G (2003) The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy. J Endocrinol Investig 26: pp. 620-2 CrossRef
  29. Wei, B, Xu, Z, Ruan, J, Zhu, M, Jin, K, Zhou, D (2012) MTHFR 677C>T and 1298A> polymorphisms and male infertility risk: a meta-analysis. Mol Biol Rep 39: pp. 1997-2002 CrossRef
  30. Weiner, AS, Boyarskikh, UA, Voronina, EN, Tupikin, AE, Korolkova, OV, Morozov, IV (2014) Polymorphisms in folate-metabolizing genes and risk of idiopathic male infertility: a study on a Russian population and a meta-analysis. Fertil Steril 101: pp. 87-94 e3 CrossRef
  31. Wilcken, B, Bamforth, F, Li, Z, Zhu, H, Ritvanen, A, Renlund, M (2003) Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet 40: pp. 619-25 CrossRef
  32. Forges, T, Pellanda, H, Diligent, C, Monnier, P, Gueant, JL (2008) Do folates have an impact on fertility?. Gynecol Obstet Fertil 36: pp. 930-9 CrossRef
  33. Chen, Z, Karaplis, AC, Ackerman, SL, Pogribny, IP, Melnyk, S, Lussier-Cacan, S (2001) Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 10: pp. 433-43 CrossRef
  34. Ebisch, IM, Thomas, CM, Peters, WH, Braat, DD, Steegers-Theunissen, RP (2007) The importance of folate, zinc and antioxidants in the pathogenesis and prevention of subfertility. Hum Reprod Update 13: pp. 163-74 CrossRef
  35. Wallock, LM, Tamura, T, Mayr, CA, Johnston, KE, Ames, BN, Jacob, RA (2001) Low seminal plasma folate concentrations are associated with low sperm density and count in male smokers and nonsmokers. Fertil Steril 75: pp. 252-9 CrossRef
  36. Finnell, RH, Shaw, GM, Lammer, EJ, Volcik, KA (2002) Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?. Genet Test 6: pp. 47-52 CrossRef
  37. Put, NM, Gabreels, F, Stevens, EM, Smeitink, JA, Trijbels, FJ, Eskes, TK (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet 62: pp. 1044-51 CrossRef
  38. Naqvi, H, Hussain, SR, Ahmad, MK, Mahdi, F, Jaiswar, SP, Shankhwar, SN (2014) Role of 677C-->T polymorphism a single substitution in methylenetetrahydrofolate reductase (MTHFR) gene in North Indian infertile men. Mol Biol Rep 41: pp. 573-9 CrossRef
  39. Dhillon, VS, Shahid, M, Husain, SA (2007) 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 Hum Reprod 13: pp. 213-22 CrossRef
  40. Li, SS, Li, J, Xiao, Z, Ren, AG, Jin, L (2014) Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility. Genet Mol Res GMR 13: pp. 6367-74 CrossRef
  41. Paracchini, V, Garte, S, Taioli, E (2006) MTHFR C677T polymorphism, GSTM1 deletion and male infertility: a possible suggestion of a gene-gene interaction?. Biomark Biochem Indic Expo Response Susceptibility Chem 11: pp. 53-60
  42. Bezold, G, Lange, M, Peter, RU (2001) Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl J Med 344: pp. 1172-3 CrossRef
  43. Montjean, D, Benkhalifa, M, Dessolle, L, Cohen-Bacrie, P, Belloc, S, Siffroi, JP (2011) Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil Steril 95: pp. 635-40 CrossRef
  44. Gava, MM, Kayaki, EA, Bianco, B, Teles, JS, Christofolini, DM, Pompeo, AC (2011) Polymorphisms in folate-related enzyme genes in idiopathic infertile Brazilian men. Reprod Sci 18: pp. 1267-72 CrossRef
  45. Toffoli, G, Mattia, E (2008) Pharmacogenetic relevance of MTHFR polymorphisms. Pharmacogenomics 9: pp. 1195-206 CrossRef
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Gynecology
  Developmental Biology
  Human Genetics
  
• 出版者：Springer Netherlands
• ISSN：1573-7330

文摘

Purpose This study explored the possible association of four single nucleotide polymorphisms (SNPs) of the three folate-related enzyme genes: MTHFR C677T and A1298C, MTR A2756G and MTRR A66G, with male infertility in the Chinese population. Methods The polymorphic distributions of the four SNPs (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) were investigated by the method of SNaPshot in a Chinese cohort including 296 idiopathic infertile males with azoospermia or oligozoospermia and 204 fertile males. Results We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. Conclusions There is no evidence for an association between male infertility and polymorphism of the three folate-related enzyme genes in the Chinese population.