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Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia.
Systems Biology in Reproductive Medicine ( IF 2.4 ) Pub Date : 2015-07-22 , DOI: 10.3109/19396368.2015.1049752
Shin Young Kim 1 , Jung Wook Lim 2 , Jin Woo Kim 1 , So Yeon Park 1 , Ju Tae Seo 3
Affiliation  

Polymorphisms in the genes encoding enzymes in the folate metabolism pathway have been associated with male infertility and chromosome abnormalities. The aim of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) polymorphisms in fertile men and infertile men with non-obstructive azoospermia (NOA). A case-control study comprising 85 infertile men with NOA and 246 fertile men as controls was carried out. MTHFR c.677C > T (rs1801133), MTHFR c.1298A > C (rs1801131), MTR c.2756A > G (rs1805087), and MTRR c.66A > G (rs1801394) polymorphisms were determined using the polymerase chain reaction restriction fragment length polymorphism technique. There were significant differences in AC + CC genotype (OR = 1.9, 95% CI = 1.1-3.2) and C allele frequencies (OR = 1.8, 95% CI = 1.2-2.8) of MTHFR c.1298A > C polymorphism between NOA patients and controls after applying the Bonferroni correction. Moreover, the 1298AC genotype, 1298AC + CC genotype, and 1298C allele frequencies were statistically significant in NOA with chromosomal abnormalities and/or a Y chromosome deletion compared to the controls (AC genotype: OR = 3.0; AC + CC genotype: OR = 3.0; C allele: OR = 2.3). Considering the other polymorphisms, no differences were found between cases and controls. Our findings suggest the MTHFR c.1298A > C polymorphism is associated with an increased risk of male infertility, i.e., NOA.

中文翻译:

叶酸相关酶基因的遗传多态性与非阻塞性无精子症的不育男性之间的关联。

叶酸代谢途径中编码酶的基因多态性与男性不育和染色体异常有关。这项研究的目的是分析亚甲基四氢叶酸还原酶(MTHFR),蛋氨酸合酶(MTR)和蛋氨酸合酶还原酶(MTRR)多态性在具有非阻塞性无精症(NOA)的可育男性和不育男性中的分布。进行了一项病例对照研究,其中包括85名NOA不育男性和246名可育男性作为对照。使用聚合酶链反应限制片段确定MTHFR c.677C> T(rs1801133),MTHFR c.1298A> C(rs1801131),MTR c.2756A> G(rs1805087)和MTRR c.66A> G(rs1801394)多态性。长度多态技术。AC + CC基因型之间存在显着差异(OR = 1.9,95%CI = 1.1-3。2)应用Bonferroni校正后,NOA患者与对照组之间的MTHFR c.1298A> C多态性的C等位基因频率(OR = 1.8,95%CI = 1.2-2.8)。此外,与对照组相比,NOA中具有染色体异常和/或Y染色体缺失的1298AC基因型,1298AC + CC基因型和1298C等位基因频率在统计学上显着(AC基因型:OR = 3.0; AC + CC基因型:OR = 3.0 ; C等位基因:OR = 2.3)。考虑到其他多态性,病例与对照之间没有发现差异。我们的发现表明,MTHFR c.1298A> C多态性与男性不育症(即NOA)的风险增加有关。与对照组相比,NOA中具有染色体异常和/或Y染色体缺失的1298AC + CC基因型和1298C等位基因频率在统计学上显着(AC基因型:OR = 3.0; AC + CC基因型:OR = 3.0; C等位基因:OR = 2.3)。考虑到其他多态性,病例与对照之间没有发现差异。我们的发现表明,MTHFR c.1298A> C多态性与男性不育症(即NOA)的风险增加有关。与对照组相比,NOA中具有染色体异常和/或Y染色体缺失的1298AC + CC基因型和1298C等位基因频率在统计学上显着(AC基因型:OR = 3.0; AC + CC基因型:OR = 3.0; C等位基因:OR = 2.3)。考虑到其他多态性,病例与对照之间没有发现差异。我们的发现表明,MTHFR c.1298A> C多态性与男性不育症(即NOA)的风险增加有关。
更新日期:2019-11-01
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