Genetic variants in QRICH2 gene among Jordanians with sperm motility disorders DOI Creative Commons

Haneen M. Alhnaity,

Ala’a S. Shraim, Berjas Abumsimir

et al.

Libyan Journal of Medicine, Journal Year: 2025, Volume and Issue: 20(1)

Published: March 19, 2025

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

Language: Английский

Genetic variants in QRICH2 gene among Jordanians with sperm motility disorders DOI Creative Commons

Haneen M. Alhnaity,

Ala’a S. Shraim, Berjas Abumsimir

et al.

Libyan Journal of Medicine, Journal Year: 2025, Volume and Issue: 20(1)

Published: March 19, 2025

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

Language: Английский

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