DPF3和DSCAML1中的变异与精子形态有关。
Variants in DPF3 and DSCAML1 are associated with sperm morphology.
作者信息
Kosova Gülüm, Hotaling James M, Ohlander Samuel, Niederberger Craig, Prins Gail S, Ober Carole
机构信息
Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA.
出版信息
J Assist Reprod Genet. 2014 Feb;31(2):131-7. doi: 10.1007/s10815-013-0140-9. Epub 2013 Nov 26.
PURPOSE
Abnormalities in semen parameters are often associated with reduced fertility in males, and may, in part, be attributed to genetic variation. Aim of this study is to determine if genetic variants that were previously shown to be predictors of family size and birth rate in healthy men are also associated with sperm morphology in men recruited from an infertility laboratory.
METHODS
Genetic associations with sperm morphology phenotypes in 126 ethnically diverse men from Chicago at 41 independent loci, previously shown to be predictors of family size and birth rate in healthy men, were tested.
RESULTS
Two intronic SNPs, rs680730 (in DSCAML1) and rs10129954 (in DPF3), were associated with the percent of normal sperm morphology in Chicago men (P = 0.017 and 0.023, respectively). Furthermore, both loci were associated with increased occurrence of sperm head defects.
CONCLUSIONS
SNPs in two genes, both of which have roles in nervous system development, were associated with poor sperm morphology. These results may be helpful in identification of other novel genes and biological pathways whose proper functioning is crucial for sperm production and male reproductive processes.
目的
精液参数异常常与男性生育力降低相关，且部分可能归因于基因变异。本研究的目的是确定先前显示为健康男性家庭规模和出生率预测指标的基因变异是否也与从不育症实验室招募的男性的精子形态有关。
方法
对来自芝加哥的126名不同种族男性中41个独立位点的精子形态表型进行基因关联测试，这些位点先前已被证明是健康男性家庭规模和出生率的预测指标。
结果
两个内含子单核苷酸多态性（SNP），即rs680730（位于DSCAML1基因中）和rs10129954（位于DPF3基因中），与芝加哥男性正常精子形态的百分比相关（P值分别为0.017和0.023）。此外，这两个位点都与精子头部缺陷发生率增加有关。
结论
两个在神经系统发育中起作用的基因中的SNP与精子形态不良有关。这些结果可能有助于识别其他新的基因和生物学途径，其正常功能对精子生成和男性生殖过程至关重要。
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