TY  - JOUR
AU  - Muzammal, Muhammad
AU  - Faraz, Maria
AU  - Rehman, Zia Ur
AU  - Khan, Muzammil Ahmad
PY  - 2026
DA  - 2026/03/09
TI  - Unraveling the Role of Non-Coding Genetic Variants in Male Infertility: Insights from the Chinese Population
JO  - OBM Genetics
SP  - 327
VL  - 10
IS  - 01
AB  - Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associated with male infertility. However, a significant part of the human genome, namely non-coding DNA, has not yet been explored. Recent breakthroughs in the realm of high-throughput genomic technologies have unveiled the indispensable role played by non-coding single-nucleotide polymorphisms (SNPs) and non-coding RNAs in the regulation of gene expression and normal spermatogenesis. This article illuminates advances in understanding the contribution of non-coding genetic variation to male infertility among the Chinese population. Key studies linking non-coding SNPs in regulatory regions of genes such as PRM1, PRM2, KIT, and KITLG with azoospermia and oligozoospermia are summarized. In addition, there is a discussion about the deregulation of several classes of ncRNAs, such as microRNAs (miRNAs), long non-coding RNAs, PIWI-interacting RNAs (piRNAs), and circular RNAs, and how these deregulations affect testicular functionality, germ cell development, and sperm quality. These unique population-specific genetic backgrounds have revealed unique patterns of association of noncoding variants with male infertility in Chinese cohorts, suggesting the relevance of ethnicity-focused genetic research. This review underscores the importance of non-coding genomic variation in the etiology of male infertility and emphasizes the potential of precision medicine strategies tailored to the Chinese population.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2601327
DO  - 10.21926/obm.genet.2601327
ID  - Muzammal2026
ER  -