HIST1H1T encodes H1T, a testicular variant of histone H1, which is expressed during spermatogenesis especially in primary spermatocytes and facilitates histone to protamine exchanges during maturation of spermatozoa. The goal of the conducted research was to evaluate four genetic variations of HIST1H1T in men with nonobstructive azoospermia. This case–control study was conducted among a total number of 200 men, including 100 nonobstructive azoospermic (NOA) infertile men. In this study, three single‐nucleotide polymorphisms, including c.‐54C>T (rs72834678), c.‐912A>C (rs707892) and c.‐947A>G (rs74293938) in regulatory region as well as one SNP c.40G>C (rs198844) in coding region were identified using PCR sequencing. According to statistical analysis, none of those SNPs in regulatory regions showed significant differences in case and control groups. For SNP (c.40G>C), a significantly higher frequency of C allele in the case group was observed compared to the control group (p‐value: .044). In conclusion, according to statistical analysis it seems that the polymorphism of c.40G>C is not associated with nonobstructive azoospermia.

中文翻译：

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HIST1H1T 调节区改变对人类非阻塞性无精子症的遗传贡献。

HIST1H1T编码 H1T，一种组蛋白 H1 的睾丸变体，在精子发生过程中特别是在初级精母细胞中表达，并在精子成熟过程中促进组蛋白与鱼精蛋白的交换。所进行研究的目的是评估HIST1H1T的四种遗传变异在患有非梗阻性无精子症的男性中。这项病例对照研究在总共 200 名男性中进行，其中包括 100 名非梗阻性无精子症 (NOA) 不育男性。在这项研究中，三个单核苷酸多态性，包括调控区的c.-54C>T（rs72834678）、c.-912A>C（rs707892）和c.-947A>G（rs74293938）以及一个SNP c。使用PCR测序鉴定编码区中的40G>C（rs198844）。根据统计分析，这些监管区域的 SNP 在病例组和对照组中均未显示出显着差异。对于 SNP (c.40G>C)，与对照组相比，观察到病例组中 C 等位基因的频率显着更高（p 值：.044）。总之，根据统计分析，c.40G>C的多态性似乎与非梗阻性无精子症无关。