Article
Biochemistry & Molecular Biology
Chying-Chyuan Chan, Te-Hsin Yen, Hao-Chen Tseng, Brang Mai, Pin-Kuan Ho, Jian-Liang Chou, Gwo-Jang Wu, Yu-Chuan Huang
Summary: Advanced reproductive technologies have been used to identify genetic mutations associated with male infertility. This study identified potential single nucleotide polymorphisms (SNPs) related to male infertility through targeted next-generation sequencing (NGS) and whole exome sequencing (WES). The validation step of Sanger sequencing added confidence to the identified variants. Mutations in SPATA16, CFTR, KIF6, STPG2, and DRC7 were found to be associated with male infertility, particularly azoospermia. These findings suggest that dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility and further investigations are needed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Kapali Suri, Neha Rajput, Priya Sharma, Aishwarya D. Omble, Kiran Kulkarni, Gagandeep K. Gahlay
Summary: Ovastacin (ASTL), a zinc metalloprotease, plays a crucial role in preventing polyspermy and protecting the pre-implantation embryo. Deleterious SNPs in ASTL can disrupt its interaction with ZP2 and FETUB, leading to female infertility. In silico analysis of 4,748 SNPs identified mutations in the catalytic domain of ASTL that affect its catalytic activity and zinc binding site. Docking studies revealed the involvement of hydrophobic interactions and H bonding between ASTL, ZP2, and FETUB, with specific amino acid positions showing significant associations with SNPs. These findings shed light on the importance of ASTL in fertility and provide insights into potential mechanisms underlying female infertility.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Thomas Greither, Hermann M. Behre, Holger Herlyn
Summary: Deciphering the functional relationships between genes associated with phenotypic variations can be challenging. In this study, a genome-wide association study (GWAS) linked twelve non-synonymous single-nucleotide polymorphisms (SNPs) to fertility variation in men. These SNPs were located in nine genes that have been previously implicated in male fertility. The study also identified potential biomarkers for the diagnosis of male fertility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Zhihai Teng, Hu Wang, Fengran Guo, Zhenwei Han, Yaxuan Wang
Summary: This meta-analysis examined the association between 3 eNOS gene polymorphisms and male infertility. The rs2070744 and rs1799983 polymorphisms of eNOS were found to be associated with an increased risk of male infertility, while the rs61722009 polymorphism might be a risk factor for Asians.
Article
Medicine, General & Internal
Hongcheng Luo, Yanxin Huang, Mengran Han, Yanfang Pang, Pei Yu, Yujin Tang, Huixiong Yuan, Jie Li, Wencheng Chen
Summary: This study found that infertile men had elevated serum levels of estradiol and ESR alpha, which were negatively correlated with sperm quality parameters. The single nucleotide polymorphisms at rs2234693 of the ESR alpha gene had little or no effect on sperm quality and fertility.
Article
Biochemistry & Molecular Biology
Jedrzej Baszynski, Piotr Kaminski, Maria Bogdzinska, Slawomir Mroczkowski, Marek Szymanski, Karolina Wasilow, Emilia Stanek, Karolina Holderna-Bona, Sylwia Brodzka, Rafal Bilski, Halyna Tkachenko, Natalia Kurhaluk, Tomasz Stuczynski, Malgorzata Lorek, Alina Wozniak
Summary: The intensification of oxidative stress affects male reproductive potential and enzymatic antioxidative mechanisms. Chemical elements, antioxidants, and genetic polymorphism are interconnected and shape male fertility.
Article
Medicine, General & Internal
Anastasios Potiris, Anastasia Voitse, Despoina Mavrogianni, Nikolaos Machairiotis, Eirini Drakaki, Myrto Papamentzelopoulou, Theodoros Karampitsakos, Athanasios Zikopoulos, Evangelini Evgeni, Peter Drakakis, Sofoklis Stavros
Summary: This case-control study found associations between GSTM1 polymorphism and redox potential with male infertility. The frequency of the GSTM1-null genotype was higher in infertile men and was associated with an increased risk for male infertility. Fertile controls carrying the GSTM1-null genotype showed lower sperm morphology and slow progressive motility. Additionally, infertile males exhibited higher levels of redox potential compared to fertile ones. The study suggests that GSTM1 polymorphism and redox potential may have an impact on both fertile and infertile males.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Katie M. Troike, Arlet M. Acanda de la Rocha, Tyler J. Alban, Matthew M. Grabowski, Balint Otvos, Gino Cioffi, Kristin A. Waite, Jill S. Barnholtz Sloan, Justin D. Lathia, Tomas R. Guilarte, Diana J. Azzam
Summary: The genetic variant of the TSPO gene may have a significant impact on the prognosis of GBM patients, with an association between the TSPO rs6971 variant and adverse outcomes observed in male GBM patients but not in females. These results suggest that the TSPO rs6971 polymorphism could serve as a significant predictor of poor prognosis in GBM patients.
Article
Immunology
Karolina Piekarska, Pawel Radwan, Agnieszka Tarnowska, Andrzej Wisniewski, Rafal Krasinski, Michal Radwan, Jacek R. Wilczynski, Andrzej Malinowski, Izabela Nowak
Summary: Male factors play an important role in infertility of couples. HLA-G gene polymorphisms in seminal plasma may influence the secretion of soluble HLA-G protein in semen and affect male fertility. The G-C-ins haplotype may reduce sperm parameters.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Review
Plant Sciences
Zheng Ying, Muhammad Awais, Reshmi Akter, Fengjiao Xu, Sul Baik, Daehyo Jung, Deok Chun Yang, Gi-Young Kwak, Wenying You
Summary: Discriminating plant species, cultivars, and landraces is challenging, but SNP markers have proven to be a reliable tool for differentiating Panax ginseng and similar species. This article provides a cost-effective guide for SNP marker analysis in a traditional laboratory setting.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Cardiac & Cardiovascular Systems
Matthew R. Alexander, Samuel Hank, Bethany L. Dale, Lauren Himmel, Xue Zhong, Charles D. Smart, Daniel J. Fehrenbach, Yuhan Chen, Nitin Prabakaran, Brian Tirado, Megan Centrella, Mingfang Ao, Liping Du, Yu Shyr, Daniel Levy, Meena S. Madhur
Summary: Research suggests that the Trp encoding allele of rs3184504 may be causal for hypertension and renal dysfunction, in part due to the loss of SH2B3-mediated repression of T cell IL-12 signaling leading to enhanced IFNg production.
CIRCULATION RESEARCH
(2022)
Article
Environmental Sciences
Fatemeh Fallah, Abasalt Hosseinzadeh Colagar, Hayder Abdulhadi Saleh, Mojtaba Ranjbar
Summary: This study investigated the association between enzymatic factors in semen, polymorphisms (SOD2 rs4880, GPX1 rs1050450, and CAT rs1001179), and male infertility. The results showed that the rs1050450 polymorphism was associated with a reduced risk of male infertility, asthenozoospermia, and teratozoospermia, while the rs4880 polymorphism was associated with an increased risk of male infertility and teratozoospermia.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Filomena Mottola, Marianna Santonastaso, Valentina Ronga, Renata Finelli, Lucia Rocco
Summary: This study investigated the association between polymorphic rearrangements of chromosome 9 and male infertility. The results suggested that these rearrangements might be associated with abnormalities in sperm quality, indicating their potential impact on spermatogenesis regulation.
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Peripheral Vascular Disease
Hongyan Wu, Yuan Yang, Zhangxue Hu
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
(2018)
Article
Developmental Biology
Xiling Yang, Xiangyou Leng, Wenling Tu, Yunqiang Liu, Jinyan Xu, Xue Pei, Yongyi Ma, Dong Yang, Yuan Yang
REPRODUCTION FERTILITY AND DEVELOPMENT
(2018)
Article
Cell Biology
Ying Shen, Wenling Tu, Yunqiang Liu, Xiling Yang, Qiang Dong, Bo Yang, Jinyan Xu, Yuanlong Yan, Xue Pei, Mohan Liu, Wenming Xu, Yuan Yang
CELL DEATH & DISEASE
(2018)
Article
Reproductive Biology
Yongjie Lu, Shunyao Liao, Wenling Tu, Bo Yang, Shasha Liu, Xue Pei, Dachang Tao, Yilu Lu, Yongxin Ma, Yuan Yang, Yunqiang Liu
BIOLOGY OF REPRODUCTION
(2019)
Article
Oncology
Wenling Tu, Bo Yang, Xiangyou Leng, Xue Pei, Jinyan Xu, Mohan Liu, Qiang Dong, Dachang Tao, Yongjie Lu, Yunqiang Liu, Yuan Yang
Article
Dermatology
Li Zhongtao, Wang Jiayue, Yang Yuan, Wang Sheng
EXPERIMENTAL DERMATOLOGY
(2020)
Review
Andrology
Shengyu Xie, Yangwei Zhang, Yuan Yang
Article
Medicine, General & Internal
Tian Tao, Yuan Yang, Zhangxue Hu
Article
Obstetrics & Gynecology
Bo Yang, Yuan Yang, Yunqiang Liu, Hong Li, Shangqing Ren, Zhufeng Peng, Kun Fang, Luchen Yang, Qiang Dong
Summary: The study explored exome and transcriptome characteristics of varicocele (VE) through experimental and cohort studies, identifying candidate genes and pathways potentially involved in the pathogenesis of VE.
FERTILITY AND STERILITY
(2021)
Article
Biochemistry & Molecular Biology
Yang-wei Zhang, Hai-bo Qu, Ning Long, Xiang-you Leng, Yun-qiang Liu, Yuan Yang
Summary: Joubert syndrome (JBTS) is a rare genetic disorder with complex etiology and diverse symptoms. Through whole exome sequencing, researchers identified a novel missense mutation in the OFD1 gene, which plays a critical role in brain development.
MOLECULAR GENETICS AND GENOMICS
(2021)
Article
Oncology
Xiangyou Leng, Mohan Liu, Dachang Tao, Bo Yang, Yangwei Zhang, Tianrong He, Shengyu Xie, Zhaokun Wang, Yunqiang Liu, Yuan Yang
Summary: The study revealed that DNA methylation plays a crucial role in regulating the expression of TSPY1 in prostate cancer, and identified TSPY1 as an androgen-AR axis-regulated oncogene, suggesting a novel and potential target for PCa therapy.
Article
Genetics & Heredity
Shengyu Xie, Xiangyou Leng, Dachang Tao, Yangwei Zhang, Zhaokun Wang, Xinyue Zhang, Tianrong He, Xiaolan Tan, Yunqiang Liu, Yuan Yang
Summary: The study identified eight pathogenic PKD1 variants that alter RNA splicing through analyzing numerous rare single-nucleotide variants with the help of MaxEntScan scoresplice and in vitro minigene splicing assay.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Andrology
Tianrong He, Mohan Liu, Dachang Tao, Xiangyou Leng, Zhaokun Wang, Shengyu Xie, Yangwei Zhang, Xinyue Zhang, Xiaolan Tan, Yunqiang Liu, Yuan Yang
Summary: The study found no association between variants in the BRD7 gene and spermatogenic efficiency or defects, suggesting a limited contribution of the BRD7 gene to spermatogenic efficiency and susceptibility to male infertility in humans.
BASIC AND CLINICAL ANDROLOGY
(2021)
Article
Andrology
Shengyu Xie, Yongyi Ma, Yunqiang Liu, Dachang Tao, Zhaokun Wang, Yuan Yang
Summary: In this study, it was found that the gr/gr duplication on the Y chromosome is a predisposing genetic factor for spermatogenic impairment in Han Chinese males with the O3* haplogroup. The b2/b3 duplication, on the other hand, does not have a significant deleterious effect on spermatogenesis in the C & alpha;2* haplogroup. These findings suggest that differences in Y-chromosome composition may contribute to the discrepancies in the association between AZFc duplication and spermatogenic failure among different populations.
Letter
Andrology
Sheng-Yu Xie, Da-Chang Tao, Yuan Yang
ASIAN JOURNAL OF ANDROLOGY
(2021)