Mtr, short for 5-Methytetrahydrofolate-Homocysteine Methyltransferase, is a key enzyme in homocysteine metabolism. This process is vital as it helps maintain normal levels of homocysteine in the body, which is related to various physiological functions and is involved in one-carbon metabolism pathways [1,2,3]. Genetic polymorphisms of Mtr are being studied for their potential impacts on health.

The MTR A2756G polymorphism was investigated in relation to several diseases. It was not associated with the risk of recurrent miscarriages [2]. However, in male infertility, a meta-analysis suggested that the MTR A2756G polymorphism might be a potential risk factor, except for in the dominant model [3]. Also, the MTR D919G variant was associated with an increased risk of prostate adenocarcinoma, especially in Asian descendants and hospital-based studies, and might be related to the prognosis of this cancer [4]. In lower-extremity arteriosclerotic occlusion, the G allele in MTR was found to be a high-risk factor, and the GG allele was a risk gene for this condition [1].

In conclusion, Mtr plays a significant role in homocysteine metabolism, and its genetic polymorphisms are associated with various diseases such as male infertility, prostate adenocarcinoma, and lower-extremity arteriosclerotic occlusion. Research on Mtr genetic polymorphisms contributes to understanding the genetic basis of these diseases, potentially providing new insights for diagnosis, prognosis, and treatment strategies.