Male infertility

Association between methionine synthase reductase A66G polymorphism and primary infertility in Chinese males

X. Y. Li, Ye, J. Z., Ding, X. P., Zhang, X. H., Ma, T. J., Zhong, R., and Ren, H. Y., “Association between methionine synthase reductase A66G polymorphism and primary infertility in Chinese males”, vol. 14, pp. 3491-3500, 2015.

We examined the association between the methionine synthase reductase (MTRR A66G), methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), and methionine synthase (MS A2756G) genotypes and non-obstructive male infertility in a Chinese population. This case-control study included 162 infertile Chinese patients with azoospermia (N = 100) or oligoasthenozoospermia (N = 62) and 120 fertile men as controls.

FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

X. Q. Wu, Xu, S. M., Wang, Y. Q., Li, Q., Wang, Z. Q., Zhang, C. L., and Shen, Y., “FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis”, vol. 14, pp. 5592-5601, 2015.

Male infertility is a complex multifactorial and polygenic disease, and genetic factors play an important role in its formation and development. Recently, the association between follicle stimulating hormone receptor (FSHR) gene polymorphisms and male infertility risk has attracted widespread attention due to the unique biological functions of FSH. The aim of this study was to further explore the associations between the Thr307Ala and Asn680Ser polymorphisms of the FSHR gene and male infertility.

Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause

R. L. Dai, Hou, Y., Li, F. B., Yue, J. M., Xi, Q., and Liu, R. Z., “Varicocele and male infertility in Northeast China: Y chromosome microdeletion as an underlying cause”, vol. 14, pp. 6583-6590, 2015.

The prevalence of Y chromosome microdeletions among azoospermic, severe oligozoospermic, moderate oligozoospermic, and mild oligozoospermic patients with varicocele-related and idiopathic infertility shows conflicting data in Asian countries. We aimed to detect this frequency in Northeast China, and investigated spermatogenic defects whether associated with varicocele or Y chromosome microdeletions. All samples underwent a thorough physical examination, semen analysis, and PCR analyses for Y chromosome microdeletions.

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

S. E. Aydos, Karadağ, A., Özkan, T., Altınok, B., Bunsuz, M., Heidargholizadeh, S., Aydos, K., and Sunguroĝlu, A., “Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility”, vol. 14, pp. 6330-6339, 2015.

Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired repro­ductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug re­sistance1 (MDR1) gene encodes a P-glycoprotein which has a role in the active transport of various substrates providing protection of somatic cells from potentially toxic substances, including xenobi­otics.

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

S. - S. Li, Li, J., Xiao, Z., Ren, A. - G., and Jin, L., “Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility”, vol. 13, pp. 6367-6374, 2014.

The aim of this study was to explore the relationship between 2 genetic polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR), C677T and A1298C, and determine the long-term reproductive outcome in infertile men. This was a prospective study conducted in an andrology clinic. Men with a 1-year history of infertility were assessed for the MTHFR polymorphisms at a 5-year follow-up.

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

A. I. Güney, Javadova, D., Kırac, D., Ulucan, K., Koc, G., Ergec, D., Tavukcu, H., and Tarcan, T., “Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients”, vol. 11, pp. 1039-1048, 2012.

Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA) rearrangements. To investigate the etiology of decreased sperm fertility and motility of sperm and to develop an appropriate therapeutic strategy, the molecular basis of these defects must be elucidated.

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

Y. Hu, Wen, W., Yu, J. - G., Qu, S. - Q., Wang, S. - S., Liu, J., Li, B. - S., and Luo, Y., “Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population”, vol. 11, pp. 4226-4234, 2012.

The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length polymorphism analysis for SNPs in 312 fertile males and 388 infertile males in Northeast China.

Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects

J. Meng, Mu, X., and Wang, Y. M., “Influence of the XbaI polymorphism in the estrogen receptor-α gene on human spermatogenic defects”, vol. 12, pp. 1808-1815, 2013.

Polymorphisms of estrogen receptor (ER) genes have been implicated in male infertility, but studies of this association have produced conflicting results. The present study was conducted to examine whether polymorphisms within the ERα and ERβ genes are susceptibility factors for human male idiopathic infertility in Chinese men. We investigated the association between the ERα gene and PvuII and XbaI polymorphisms and the ERβ gene and RsaI and AluI polymorphisms and idiopathic male infertility in Han Chinese men.

Infertility caused by male partners with genetic defects in Sichuan Province of China

Q. Quan, Li, T. J., Ding, X. P., Wei, J., Li, L. X., and Fu, L., “Infertility caused by male partners with genetic defects in Sichuan Province of China”, vol. 12, pp. 6512-6520, 2013.

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and Origin 8.0 was used to analyze the prevalence of abnormalities.

Association between male infertility and androgen receptor mutations in Brazilian patients

C. O. A. Melo, Danin, A. R., Silva, D. M., Tacon, J. A., Moura, K. K. V. O., Costa, E. O. A., and da Cruz, A. D., “Association between male infertility and androgen receptor mutations in Brazilian patients”, vol. 9, pp. 128-133, 2010.

The androgen receptor is encoded by a single-copy gene located in the long arm of the X chromosome (Xq11-12); it consists of eight exons and encodes an intracellular transcription factor that belongs to the steroid/nuclear receptor superfamily. Disturbances in the function of the androgen receptor can lead to several forms of male pseudohermaphroditism, such as androgen insensitivity syndrome, which can lead to infertility. Infertility affects around 20% of couples, and in half of the cases it is a male problem.

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