Investigating the association of FSHB -211G > T polymorphism with male infertility and reproductive parameters in the men from South-West of Iran

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-05-14 DOI:10.1016/j.genrep.2025.102254

Zahra Zanganehnejad , Alihossein Saberi , Milad Pezeshki , Zohre Zanganeh Fard

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引用次数: 0

Abstract

Background

Male infertility is a complex disorder that arises from a combination of genetic and environmental factors. The presence of a particular genetic variation, referred to as rs10835638 (c.-211G > T) polymorphism in the follicle stimulating hormone beta subunit (FSHB) gene, might be involved in the disruption of reproductive parameters and its association with male infertility. The aim of this research is to examine the correlation between the FSHB -211G > T polymorphism and the susceptibility to male infertility in South-west of Iran.

Methods

The study recruited a cohort of 120 patients diagnosed with male infertility, and 120 fertile men serving as a healthy control group, January 2018 until April 2021. By employing the PCR-RFLP technique, the association between FSHB -211G > T polymorphism with the risk of male infertility was investigated. Additionally, bioinformatics analysis was utilized to further investigate the potential implications of these genetic variations on male reproductive health.

Results

The genotype and allele frequency analysis for FSHB -211G > T polymorphism show that frequency of GT genotype in the case and control groups, was 22.5 % and 9 %, respectively, also the frequency of TT genotype in the cases is 12 times more than controls group. There was a significant statistical difference between GT (P = 0.008, OR = 4.682, CI = 95 %, 2.299–8.555) and TT (P = 0.000, OR = 16.500, CI = 95 %, 4.239–35.510) genotypes and also, T allele (P = 0.000, OR = 5.618, CI = 95 %, 2.848–11.082) of this polymorphism with risk of male infertility. The analysis of association between the FSHB -211G > T with reproductive parameters in infertile men group revealed the strongest associations to FSH levels. Significantly lower FSH levels were detected in the TT genotype carriers (P = 0.003, OR = 5.214, CI = 95 %, 1.260–10.317) and also T allele (P = 0.007, OR = 2.602, CI = 95 %, 1.303–5.194) of FSHB -211G > T. In contrast the TT genotype (P = 0.023, OR = 6.250, CI = 95 %, 1.287–12.349) and T allele (P = 0.001, OR = 3.215, CI = 95 %, 1.610–6.420) of this polymorphism was associated with significantly increased LH level. Also, there was significant statistical difference between the T allele of FSHB -211G > T polymorphism with decreased sperm motility (P = 0.009, OR = 2.676, CI = 95 %, 1.868–3.236).

Conclusion

The gene polymorphism FSHB -211G > T has been linked to male infertility. Furthermore, this study has pinpointed a new genetic marker that is connected to decrease FSH levels, elevated LH levels, and reduced sperm motility. This genetic marker shows promise as a molecular diagnostic tool for specific cases of male infertility. Continued research with larger and more diverse populations is essential to fully grasp the impact of this gene polymorphism on male infertility.

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伊朗西南部男性FSHB -211G >t多态性与男性不育和生殖参数的关系研究

男性不育是一种复杂的疾病，由遗传和环境因素共同引起。一种特殊基因变异的存在，被称为rs10835638 (c - 211g >；促卵泡激素β亚基（FSHB）基因的T)多态性可能参与生殖参数的破坏及其与男性不育的关联。本研究的目的是检验FSHB -211G >；伊朗西南部男性不育的T多态性与易感性。方法2018年1月至2021年4月，研究招募了120名诊断为男性不育症的患者和120名有生育能力的男性作为健康对照组。利用PCR-RFLP技术，FSHB -211G >；研究了T多态性与男性不育风险的关系。此外，利用生物信息学分析进一步调查这些遗传变异对男性生殖健康的潜在影响。结果FSHB -211G >基因型及等位基因频率分析；T多态性显示，病例组和对照组GT基因型的频率分别为22.5%和9%，TT基因型的频率是对照组的12倍。GT基因型（P = 0.008, OR = 4.682, CI = 95%, 2.299 ~ 8.555）与TT基因型（P = 0.000, OR = 16.500, CI = 95%, 4.239 ~ 35.510）、T等位基因多态性（P = 0.000, OR = 5.618, CI = 95%, 2.848 ~ 11.082）与男性不育风险有显著性差异。FSHB -211G >；不育男性组生育参数与FSH水平的相关性最强。FSHB -211G >的TT基因型携带者（P = 0.003, OR = 5.214, CI = 95%, 1.260 ~ 10.317）和T等位基因携带者（P = 0.007, OR = 2.602, CI = 95%, 1.303 ~ 5.194） FSH水平显著降低；TT基因型（P = 0.023, OR = 6.250, CI = 95%, 1.287 ~ 12.349）和T等位基因（P = 0.001, OR = 3.215, CI = 95%, 1.610 ~ 6.420）与LH水平显著升高相关。FSHB -211G >；T多态性与精子活力下降有关（P = 0.009, OR = 2.676, CI = 95%, 1.868-3.236）。结论FSHB -211G >；睾酮与男性不育有关。此外，这项研究已经确定了一个新的遗传标记，它与FSH水平降低、LH水平升高和精子活力降低有关。这种遗传标记有望成为男性不育症特定病例的分子诊断工具。在更大、更多样化的人群中继续进行研究，对于充分掌握这种基因多态性对男性不育的影响至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.