https://www.jstage.jst.go.jp/article/dmpk/27/1/27_DMPK-11-RV-098/_pdf

Functional significance of genetic polymorphisms in P-glycoprotein (MDR1, ABCB1) and breast cancer resistance protein (BCRP, ABCG2).

IntroductionElevated plasma homocysteine (Hcy) concentration is an independent risk factor for cardiovascular disease, and its involvement in endothelial cell dysfunction is well established. However, the role of Hcy and folate in the pathogenesis of Parkinson’s disease (PD) remains controversial.Ob

Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.

http://if-pan.krakow.pl/pjp/pdf/2011/3_808_ab.pdf

Frequency of the C1236T, G2677T/A and C3435T MDR1 gene polymorphisms in the Serbian population.

Development and current applications of assisted fertilization

Understanding the genetic basis of idiopathic male infertility has long been the focus of many researchers. Numerous recent studies have attempted to identify relevant single nucleotide polymorphisms (SNPs) through medical re-sequencing studies in which candidate genes are sequenced in large numbers of cases and controls in the search for risk or causative polymorphisms. Two major characteristics have limited the utility of the re-sequencing studies. First, reported SNPs have only accounted for a small percentage of idiopathic male infertility. Second, SNPs reported to have an association with male infertility based on gene re-sequencing studies often fail validation in follow-up studies. Recent advances in the tools available for genetic studies have enabled interrogation of the entire genome in search of common, and more recently, rare variants. In this review, we discuss the progress of studies on genetic and epigenetic variants of male infertility as well as future directions that we predict will be the most productive in identifying the genetic basis for male factor infertility based on our current state of knowledge in this field as well as lessons learned about the genetic basis for complex diseases from other disease models.

The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility.

Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility.

In the last 50 years a significant decrease in human fertility has been observed. The result of research indicate that 6% of men aged 15-44 years are infertile or their fertility is significantly compromised. It has also been stated that 15% of couples have fertility problems. Among infertile couples it is a man who is responsible for 50% cases of infertility. Test results show that hormonal disturbances and abnormalities in semen production belong to main causes of infertility, while anatomic anomalie can be responsible for infertility only in few cases. Various chemical substances which appear in the environment may disturb fertility of men. Polluted soil, water and air are the sources of constant exposure to xenobiotics. Substances disturbing hormonal balance (endocrine disruptors) such as pesticide, dioxins and organic solvents cause the highest danger. Improper work conditions such as too high temperature, radiation, exposure to harmful substances also have negative influence on reproductive abilities of men. In addition, it has been noticed that both, some drugs and past infections of reproductive system may have a negative impact on fertility. Studies carried out in recent years have proven that improper lifestyle such as inadequate diet, alcohol abuse, smoking and long-term stress exposure can be the reason for fertility distrurbances in men. The latest findings have stressed genetic factors which may influence reproductive abilities of men.

Environmental factors disturbing fertility of men

Previous studies have revealed that genetic factors may be involved in regulating folate turnover, e.g. methylenetetrahydrofolate reductase polymorphism in the development of male infertility. Folate transporter, encoded by the SLC19A1 gene, commonly referred to as reduced folate carrier (RFC) is a transmembrane protein, which transfers hydrophilic folates across the cell membrane. It was hypothesized that common polymorphism within the SLC19A1 gene (rs1051266:G>A, 80G>A) may alter RFC function. The aim of this study was to investigate a potential association between the SLC19A1 80G>A polymorphism and male infertility in a case-control study. The SLC19A1 80G>A polymorphism was determined by means of a polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) assay in 213 infertile Caucasian men and 226 ethnically matched controls. The distribution of SLC19A1 genotypes in the infertile men was as follows: GG 26.8%, GA 51.2%, AA 22.1% and in fertile men: GG 24.8%, GA 50.4%, AA 24.8%, and was comparable in the both the evaluated groups. Odds ratios (95% confidence interval, CI): 0.90 (0.59-1.38) and 0.88 (0.56-1.36) for dominant and recessive models remained non-significant, also after adjustment for age: 0.89 (0.57-1.37) and 0.80 (0.51-1.25), respectively. Our study demonstrated that polymorphism 80G>A of the SLC19A1 gene is not associated with male infertility.

The SLC19A1 80G>A polymorphism is not associated with male infertility

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Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility.

Environmental factors disturbing fertility of men

The SLC19A1 80G>A polymorphism is not associated with male infertility