Allelic variation in TUSC1 gene: rs1462218557 is associated with male infertility and azoospermia
Egyptian Journal of Medical Human Genetics(2023)
摘要
Background Male infertility is rapidly growing, and single nucleotide polymorphism (SNP) association studies are of critical importance. Tumor suppressor candidate 1 (TUSC1) gene is associated with azoospermia. We investigated association between rs1462218557 in TUSC1 with azoospermia. Methods We performed tetra-ARMS PCR analysis and sequencing on healthy and infertile individuals. Results Tetra-ARMS PCR results revealed that the allele frequency of the SNP for T alleles was 0.66, while the same value for C allele was 0.36. It was different from the previous reports of the other countries because they reported the allele C as the frequent allele and it was considered an ancestral allele. The genotype frequencies obtained showed that 67% of the samples were heterozygotes (T/C), while 33% were homozygotes (TT). SNP-STAT analysis showed a significant association ( p = 0.04) with the studied SNP and azoospermia in Iranian samples. Conclusions The present study reports a new allele frequency of rs1462218557 in TUSC1 gene, which may be associated with azoospermia in Iranian people. Moreover, no association was observed between neighboring sequences/SNPs with male infertility.
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关键词
tusc1 gene,male infertility,allelic variation
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