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Abstract：
OBJECTIVE: To investigate the prevalence of Y chromosome polymorphisms in Chinese men and analyze their associations with male infertility and female adverse pregnancy outcomes.
METHODS: The clinical data of 32,055 Chinese men who underwent karyotype analysis from October 2014 to September 2019 were collected. Fisher\'s exact test, chi-square test, or Kruskal-Wallis test was used to analyze the effects of Y chromosome polymorphism on semen parameters, azoospermia factor (AZF) microdeletions, and female adverse pregnancy outcomes.
RESULTS: The incidence of Y chromosome polymorphic variants was 1.19% (381/32,055) in Chinese men. The incidence of non-obstructive azoospermia (NOA) was significantly higher in men with the Yqh- variant than that in men with normal karyotype and other Y chromosome polymorphic variants (p < 0.050). The incidence of AZF microdeletions was significantly different among the normal karyotype and different Y chromosome polymorphic variant groups (p < 0.001). The detection rate of AZF microdeletions was 28.92% (24/83) in the Yqh- group and 2.50% (3/120) in the Y ≤ 21 group. The AZFb + c region was the most common AZF microdeletion (78.57%, 22/28), followed by AZFc microdeletion (7.14%,2/28) in NOA patients with Yqh- variants. There was no significant difference in the distribution of female adverse pregnancy outcomes among the normal karyotype and different Y chromosome polymorphic variant groups (p = 0.528).
CONCLUSIONS: Patients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes.
METHODS: The clinical data of 32,055 Chinese men who underwent karyotype analysis from October 2014 to September 2019 were collected. Fisher\'s exact test, chi-square test, or Kruskal-Wallis test was used to analyze the effects of Y chromosome polymorphism on semen parameters, azoospermia factor (AZF) microdeletions, and female adverse pregnancy outcomes.
RESULTS: The incidence of Y chromosome polymorphic variants was 1.19% (381/32,055) in Chinese men. The incidence of non-obstructive azoospermia (NOA) was significantly higher in men with the Yqh- variant than that in men with normal karyotype and other Y chromosome polymorphic variants (p < 0.050). The incidence of AZF microdeletions was significantly different among the normal karyotype and different Y chromosome polymorphic variant groups (p < 0.001). The detection rate of AZF microdeletions was 28.92% (24/83) in the Yqh- group and 2.50% (3/120) in the Y ≤ 21 group. The AZFb + c region was the most common AZF microdeletion (78.57%, 22/28), followed by AZFc microdeletion (7.14%,2/28) in NOA patients with Yqh- variants. There was no significant difference in the distribution of female adverse pregnancy outcomes among the normal karyotype and different Y chromosome polymorphic variant groups (p = 0.528).
CONCLUSIONS: Patients with 46,XYqh- variant have a higher incidence of NOA and AZF microdeletions than patients with normal karyotype and other Y chromosome polymorphic variants. Y chromosome polymorphic variants do not affect female adverse pregnancy outcomes.
摘要：
目的：调查中国男性Y染色体多态性的患病率，分析其与男性不育及女性不良妊娠结局的关系。
方法：收集2014年10月至2019年9月进行核型分析的32,055例中国男性患者的临床资料。费希尔的精确检验，卡方检验,或Kruskal-Wallis试验用于分析Y染色体多态性对精液参数的影响，无精子症因子（AZF）微缺失，和女性不良妊娠结局。
结果：在中国男性中，Y染色体多态性变异的发生率为1.19％（381/32,055）。Yqh变异型男性非梗阻性无精子症(NOA)的发生率明显高于正常核型和其他Y染色体多态性变异型男性(p<0.050)。正常核型和不同Y染色体多态变异组之间AZF微缺失的发生率有显著差异(p<0.001)。AZF微缺失检出率Yqh组28.92%(24/83),Y≤21组2.50%(3/120)。AZFb+c区是最常见的AZF微缺失(78.57%,22/28),其次是AZFc微缺失(7.14%，2/28）在具有Yqh-变体的NOA患者中。正常核型和不同Y染色体多态变异组女性不良妊娠结局分布差异无统计学意义(p=0.528)。
结论：46例XYqh变异体患者的NOA和AZF微缺失发生率高于正常核型和其他Y染色体多态性变异体患者。Y染色体多态变异不影响女性不良妊娠结局。
方法：收集2014年10月至2019年9月进行核型分析的32,055例中国男性患者的临床资料。费希尔的精确检验，卡方检验,或Kruskal-Wallis试验用于分析Y染色体多态性对精液参数的影响，无精子症因子（AZF）微缺失，和女性不良妊娠结局。
结果：在中国男性中，Y染色体多态性变异的发生率为1.19％（381/32,055）。Yqh变异型男性非梗阻性无精子症(NOA)的发生率明显高于正常核型和其他Y染色体多态性变异型男性(p<0.050)。正常核型和不同Y染色体多态变异组之间AZF微缺失的发生率有显著差异(p<0.001)。AZF微缺失检出率Yqh组28.92%(24/83),Y≤21组2.50%(3/120)。AZFb+c区是最常见的AZF微缺失(78.57%,22/28),其次是AZFc微缺失(7.14%，2/28）在具有Yqh-变体的NOA患者中。正常核型和不同Y染色体多态变异组女性不良妊娠结局分布差异无统计学意义(p=0.528)。
结论：46例XYqh变异体患者的NOA和AZF微缺失发生率高于正常核型和其他Y染色体多态性变异体患者。Y染色体多态变异不影响女性不良妊娠结局。
