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首页> 外文期刊>Genes and genomics >Association study of protamine 2 (PRM2) gene polymorphism with male infertility in Chinese Han population
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Association study of protamine 2 (PRM2) gene polymorphism with male infertility in Chinese Han population

机译：中国汉族人群鱼精蛋白2（PRM2）基因多态性与男性不育的相关性研究

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Protamine 2 (PRM2), an essential nuclear protein expressed in sperm, is known to be involved in the spermatogenesis. Although PRM2 defects have been reported to be involved in male infertility, studies for the relationship between male infertility and PRM2 polymorphisms are inconclusive. With the purpose to determine the association of PRM2 variant with male infertility in Chinese Han population, one single nucleotide polymorphism locus G398C in PRM2 which might play a role in semen quality was selected and the variant frequency was analyzed in 144 idiopathic infertile men (case group) and 111 proven-fertile men (control group) in the study. Three genotypes were discovered in the studied population and statistical analysis showed that the frequencies of GG and GC genotypes of PRM2 G398C were significantly different between the fertile and infertile men (P < 0.05) and GC genotype was associated with increased risk of male infertility (OR = 1.795, 95 % CI 1.070-3.013, P = 0.026). Further, the C allele distribution was significantly elevated in infertile group (OR = 1.484, 95 % CI 1.001-2.200, P = 0.049). Moreover, we discovered that sperm motility, progressive motility, sperm DNA integrity as well as nuclear maturity rate of GG genotype presented the highest values and were dramatically different with that of CC genotype (P < 0.05). Our results gave the first evidence that PRM2 G398C polymorphism was associated with the pathogenesis of male infertility and its genetic variation was in relation to semen quality in Chinese Han population.
机译：鱼精蛋白2（PRM2）是精子中表达的必需核蛋白，已知与精子发生有关。尽管据报道PRM2缺陷与男性不育有关，但关于男性不育与PRM2多态性之间关系的研究尚无定论。为了确定中国汉族人群PRM2变异与男性不育的关系，选择了可能影响精液质量的PRM2中一个单核苷酸多态性位点G398C，并分析了144位特发性不育男性（病例组）的变异频率）和111名已证实有生育能力的男性（对照组）。在研究人群中发现了三种基因型，统计分析表明，PRM2 G398C的GG和GC基因型的频率在可育和不育男性之间存在显着差异（P <0.05），且GC基因型与男性不育风险增加相关（OR ＝ 1.795，95％CI 1.070-3.013，P ＝ 0.026）。此外，在不育组中C等位基因分布显着升高（OR = 1.484，95％CI 1.001-2.200，P = 0.049）。此外，我们发现GG基因型的精子活力，进行性活力，精子DNA完整性以及核成熟率呈现最高值，与CC基因型差异显着（P <0.05）。我们的结果提供了第一个证据，即PRM2 G398C基因多态性与男性不育的发病机理有关，其遗传变异与中国汉族人群的精液质量有关。

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