Genetic variants in QRICH2 gene among Jordanians with sperm motility disorders.

IF 1.8 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Libyan Journal of Medicine Pub Date : 2025-12-01 Epub Date: 2025-03-19 DOI:10.1080/19932820.2025.2481741
Haneen M Alhnaity, Ala'a S Shraim, Berjas Abumsimir, Dima Hattab, Asma M Ghazzy, May Abdelhalim, Bayan A Abdel Majeed, Enas Daoud, Yazun Jarrar
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引用次数: 0

Abstract

Sperm motility, a key determinant of male fertility, is often impaired by genetic variations affecting flagellar formation. The glutamine-rich protein 2 (QRICH2) gene encodes a protein essential for sperm flagella biogenesis and structural integrity. This study investigates genetic variations within exon 3 of the QRICH2 gene, identifying novel heterozygous variants associated with sperm tail-specific abnormalities and motility impairments. Among 34 individuals diagnosed with asthenozoospermia (ASZ) and 26 individuals with normal sperm parameters (NZ) from Jordan, eight unique heterozygous variants (c.123 G>T, c.133 G>C, c.138A>G, c.170A>C, c.189C>G, c.190T>C, c.195A>T, and c.204A>T) were exclusive to the ASZ group, while four variants (c.136 G>A, c.145A>C, c.179T>G, and c.180T>G) were found only in NZ. These variants were absent from major genetic databases, suggesting their potential novelty, while two variants (c.206C>T and c.189C>T) were linked to known SNP cluster IDs rs73996306 and rs1567790525, respectively. Four non-synonymous SNPs (c.136 G>A, c.145A>C, c.170A>C, and c.204A>T) were predicted to be functionally and structurally damaging, underscoring their significance. Additionally, five variants overlapped with previously reported mutation sites, indicating potential mutation hotspots. Statistical analysis revealed a significant association between QRICH2 mutations and tail defects (p < 0.021). These findings highlight the critical role of heterozygous QRICH2 mutations in mild-to-moderate ASZ, even in NZ individuals. Despite some carriers meeting WHO criteria for NZ, notable morphological abnormalities suggest the need for refined diagnostic benchmarks. Screening for QRICH2 mutations is essential for accurate molecular diagnosis and should be integrated into genetic counseling, particularly in regions like Jordan. Further research into the cumulative effects of heterozygous mutations and their environmental interactions is needed to expand our understanding of idiopathic male infertility and to enhance diagnostic and therapeutic strategies for male infertility.

约旦精子运动障碍患者QRICH2基因的遗传变异
精子活力是男性生育能力的一个关键决定因素,它经常受到影响鞭毛形成的遗传变异的损害。富谷氨酰胺蛋白2 (QRICH2)基因编码一种对精子鞭毛生物发生和结构完整性至关重要的蛋白质。本研究研究了QRICH2基因外显子3内的遗传变异,发现了与精子尾部特异性异常和运动障碍相关的新型杂合变异。在34例约旦无精子症(ASZ)患者和26例精子参数正常(NZ)患者中,8个独特的杂合变异(C .123 G>T、C .133 G>C、C . 138a >G、C . 170a >C、C . 189c >G、C . 190t >C、C . 195a >T和C . 204a >T)为ASZ组所独有,而4个变异(C . 136g >A、C . 145a >C、C . 179t >G和C . 180t >G)仅在新西兰发现。这些变异在主要的遗传数据库中不存在,这表明它们可能是新颖性的,而两个变异(c.206C>T和c.189C>T)分别与已知的SNP簇id rs73996306和rs1567790525相关。四个非同义snp (C .136 G>A, C . 145a >C, C . 170a >C和C . 204a >T)被预测在功能和结构上具有破坏性,强调了它们的重要性。此外,五个变异与先前报道的突变位点重叠,表明潜在的突变热点。统计分析显示,在轻度至中度ASZ中,甚至在新西兰个体中,QRICH2突变与尾部缺陷(p QRICH2突变)之间存在显著关联。尽管一些携带者符合世卫组织的新西兰标准,但明显的形态学异常表明需要改进诊断基准。筛查QRICH2突变对于准确的分子诊断至关重要,应纳入遗传咨询,特别是在约旦等地区。需要进一步研究杂合突变的累积效应及其环境相互作用,以扩大我们对特发性男性不育症的理解,并提高男性不育症的诊断和治疗策略。
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
Libyan Journal of Medicine
Libyan Journal of Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
3.50
自引率
4.20%
发文量
20
审稿时长
>12 weeks
期刊介绍: Libyan Journal of Medicine (LJM) is a peer-reviewed, Open Access, international medical journal aiming to promote heath and health education by publishing high-quality medical research in the different disciplines of medicine. LJM was founded in 2006 by a group of enthusiastic Libyan medical scientists who looked at the contribution of Libyan publications to the international medical literature and saw that a publication outlet was missing. To fill this gap they launched LJM as a tool for transferring current medical knowledge to and from colleagues in developing countries, particularly African countries, as well as internationally.The journal is still led by a group of Libyan physicians inside and outside Libya, but it also enjoys support and recognition from the international medical community.
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