This study aimed to investigate the correlations among androgen receptor （AR） CAG repeat polymorphism, sex hormones and penile length in healthy Chinese young adult men. Two hundred and fifty-three healthy men （age...This study aimed to investigate the correlations among androgen receptor （AR） CAG repeat polymorphism, sex hormones and penile length in healthy Chinese young adult men. Two hundred and fifty-three healthy men （aged 22.8 ± 3.1years） were enrolled. The individuals were grouped as CAG short （CAGs） if they harbored repeat length of 〈20 or as CAG long （CAGL） if their CAG repeat length was 〉20. Body height/weight, penile length and other parameters were examined and recorded by the specified physicians; CAG repeat polymorphism was determined by the polymerase chain reaction （PCR） method; and the serum levels of the sex hormones were detected by radioimmunoassay. Student＇s t-test or linear regression analysis was used to assess the associations among AR CAG repeat polymorphism, sex hormones and penile length. This investigation showed that the serum total testosterone （T） level was positively associated with the AR CAG repeat length （P = 0.01）; whereas, no significant correlation of T or AR CAG repeat polymorphism with the penile length was found （P = 0.593）. Interestingly, an inverse association was observed between serum prolactin （PRL） levels and penile length by linear regression analyses （β = -0.024, P = 0.039, 95% confidence interval （CI）： -0.047, 0）. Collectively, this study provides the first evidence that serum PRL, but not T or AR CAG repeat polymorphism, is correlated with penile length in the Han adult population from northwestern China.展开更多
The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. Howev...The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2） （Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI） （Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.展开更多
Several studies have reported a relationship between the length of the CAG-repeat in the polymerase y （POLG） gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-...Several studies have reported a relationship between the length of the CAG-repeat in the polymerase y （POLG） gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of IO-CAG alleles and genotypes were high （97.38 and 94.13%, respectively）, with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile （95.67 and 92.67%, respectively） and fertile men （97.22 and 94.44%, respectively）. In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele （pooled odds ratio （0R）=0.94; 95% confidence interval （CI）： 0.60-1.48）. The significance level was not attained with any of the following genetic models： homozygote comparison （not lO/not 10 versus 10110： OR= 1.34; 95% Ch 0.66-2.72）, heterozygote comparison （lO/not 10 versus 10/10： OR= 1.04; 95% Ch 0.78-1.38）, dominant model comparison （not lO/not 10＋ 101 not 10 versus 10110. OR= 1.08; 95% Ch 0.79-1.47） and recessive genetic comparison （not lO/not 10 versus lO/not 10＋ 10/10- OR= 1.31; 95% Ch 0.68-2.55）. In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.展开更多
Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in ...Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats） （two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats） （two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats） （two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.展开更多
目的:脊髓小脑共济失调2型(spinocerebellar ataxia type 2,SCA2)是世界上最常见的常染色体显性遗传的共济失调之一。多篇报道显示某些含polyQ基因的CAG重复序列可能影响SCA2患者的发病年龄(age at onset,AAO),但在中国SCA2患者中进行...目的:脊髓小脑共济失调2型(spinocerebellar ataxia type 2,SCA2)是世界上最常见的常染色体显性遗传的共济失调之一。多篇报道显示某些含polyQ基因的CAG重复序列可能影响SCA2患者的发病年龄(age at onset,AAO),但在中国SCA2患者中进行研究的较少。因此,本研究旨在探讨CAG重复序列的长度对中国SCA2患者AAO的影响。方法:纳入119例SCA2患者,根据其主要表型分为2组:17例来自9个帕金森综合征家庭的SCA2患者作为帕金森病-SCA2(Parkinson.s disease-SCA2,PD-SAC2)组,91例来自66个SCA2家庭和11例散发的SCA2患者作为共济失调-SAC2(ataxia-SCA2,A-SCA2)组。使用荧光PCR筛查ATXN2和其他含m6(CAG)n基因中CAG重复序列的长度。采用Spearman.s等级相关的方法分析含m6(CAG)n基因中CAG重复序列的长度与AAO的相关性,采用回归分析评估CAG重复序列的长度对AAO变异的贡献,采用t检验比较PD-SAC2组与A-SCA2组间含m6(CAG)n基因中CAG重复序列的长度。结果:ATXN2基因中含较长CAG重复序列的等位基因的CAG重复序列的长度与SCA2的AAO呈负相关(R=-0.251,P<0.05),可解释41.7%的AAO变异。AAO与ATXN7基因中含较短CAG重复序列的等位基因(R=-0.251,P=0.006)及TBP基因中含较长CAG重复序列的等位基因(R=-0.197,P=0.034)的CAG重复序列的长度均呈负相关。在携带含CAG重复序列的ATXN3、CACNA1A、ATXN7、TBP和RAI1基因的SCA2患者中也检测到AAO延迟的趋势。此外,ATXN7基因和ATXN2基因的CAG重复序列的长度在A-SCA2组和PD-SCA2组之间的差异有统计学意义(均P<0.05)。结论:ATXN2中的CAG重复序列是影响中国SCA2患者AAO的主要遗传因素。ATXN3、CACNA1A、ATXN7、TBP和RAI1基因的CAG重复序列的长度可能是与SCA2的AAO相关的因素。ATXN7基因中的CAG重复序列的长度可能是SCA2患者表现为帕金森综合征的影响因素之一。展开更多
文摘This study aimed to investigate the correlations among androgen receptor （AR） CAG repeat polymorphism, sex hormones and penile length in healthy Chinese young adult men. Two hundred and fifty-three healthy men （aged 22.8 ± 3.1years） were enrolled. The individuals were grouped as CAG short （CAGs） if they harbored repeat length of 〈20 or as CAG long （CAGL） if their CAG repeat length was 〉20. Body height/weight, penile length and other parameters were examined and recorded by the specified physicians; CAG repeat polymorphism was determined by the polymerase chain reaction （PCR） method; and the serum levels of the sex hormones were detected by radioimmunoassay. Student＇s t-test or linear regression analysis was used to assess the associations among AR CAG repeat polymorphism, sex hormones and penile length. This investigation showed that the serum total testosterone （T） level was positively associated with the AR CAG repeat length （P = 0.01）; whereas, no significant correlation of T or AR CAG repeat polymorphism with the penile length was found （P = 0.593）. Interestingly, an inverse association was observed between serum prolactin （PRL） levels and penile length by linear regression analyses （β = -0.024, P = 0.039, 95% confidence interval （CI）： -0.047, 0）. Collectively, this study provides the first evidence that serum PRL, but not T or AR CAG repeat polymorphism, is correlated with penile length in the Han adult population from northwestern China.
基金supported by the National Natural Science Foundation of China(No.30400264)the Natural Science Foundation of Yunnan Province,China(No.2008ZC068M)the Chinese National High Technology Research and Development Program(No.2012AA021802)
文摘The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2） （Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI） （Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.
文摘Several studies have reported a relationship between the length of the CAG-repeat in the polymerase y （POLG） gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of IO-CAG alleles and genotypes were high （97.38 and 94.13%, respectively）, with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile （95.67 and 92.67%, respectively） and fertile men （97.22 and 94.44%, respectively）. In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele （pooled odds ratio （0R）=0.94; 95% confidence interval （CI）： 0.60-1.48）. The significance level was not attained with any of the following genetic models： homozygote comparison （not lO/not 10 versus 10110： OR= 1.34; 95% Ch 0.66-2.72）, heterozygote comparison （lO/not 10 versus 10/10： OR= 1.04; 95% Ch 0.78-1.38）, dominant model comparison （not lO/not 10＋ 101 not 10 versus 10110. OR= 1.08; 95% Ch 0.79-1.47） and recessive genetic comparison （not lO/not 10 versus lO/not 10＋ 10/10- OR= 1.31; 95% Ch 0.68-2.55）. In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.
文摘Aim： To investigate the role of CAG and GGN repeats as genetic background affecting androgen insensitivity syndrome （AIS） phenotype. Methods： We analyzed lengths of androgen receptor （AR）-CAG and GGN repeats in 69 AIS cases, along with 136 unrelated normal male individuals. The lengths of repeats were analyzed using polymerase chain reaction （PCR） amplification followed by allelic genotyping to determine allele length. Results： Our study revealed significantly shorter mean lengths of CAG repeats in patients （mean 18.25 repeats, range 14-26 repeats） in comparison to the controls （mean 22.57 repeats, range 12-39 repeats） （two-tailed P 〈 0.0001）. GGN repeats, however, did not differ significantly between patients （mean 21.48 repeats） and controls （mean 21.21 repeats） （two- tailed P = 0.474）. Among patients＇ groups, the mean number of CAG repeats in partial androgen insensitivity cases （mean 15.83 repeats） was significantly less than in complete androgen insensitivity cases （mean 19.46 repeats） （two- tailed P 〈 0.0001）. Conclusion： The findings suggest that shorter lengths of repeats in the AR gene might act as low penetrance genetic background in varying manifestation of androgen insensitivity.
基金supported by the National Key Research and Development Program(2018YFC1312003)the National Natural Science Foundation(81671120,81300981)+2 种基金the Natural Science Foundation for Distinguished Young Scholars of Hunan Province(2020JJ2057)the Degree&Postgraduate Education Reform Project of Central South University(2020JGB136)the Project Program of National Clinical Research Center for Geriatric Disorders(Xiangya Hospital)(2020LCJJ13),China。
文摘目的:脊髓小脑共济失调2型(spinocerebellar ataxia type 2,SCA2)是世界上最常见的常染色体显性遗传的共济失调之一。多篇报道显示某些含polyQ基因的CAG重复序列可能影响SCA2患者的发病年龄(age at onset,AAO),但在中国SCA2患者中进行研究的较少。因此,本研究旨在探讨CAG重复序列的长度对中国SCA2患者AAO的影响。方法:纳入119例SCA2患者,根据其主要表型分为2组:17例来自9个帕金森综合征家庭的SCA2患者作为帕金森病-SCA2(Parkinson.s disease-SCA2,PD-SAC2)组,91例来自66个SCA2家庭和11例散发的SCA2患者作为共济失调-SAC2(ataxia-SCA2,A-SCA2)组。使用荧光PCR筛查ATXN2和其他含m6(CAG)n基因中CAG重复序列的长度。采用Spearman.s等级相关的方法分析含m6(CAG)n基因中CAG重复序列的长度与AAO的相关性,采用回归分析评估CAG重复序列的长度对AAO变异的贡献,采用t检验比较PD-SAC2组与A-SCA2组间含m6(CAG)n基因中CAG重复序列的长度。结果:ATXN2基因中含较长CAG重复序列的等位基因的CAG重复序列的长度与SCA2的AAO呈负相关(R=-0.251,P<0.05),可解释41.7%的AAO变异。AAO与ATXN7基因中含较短CAG重复序列的等位基因(R=-0.251,P=0.006)及TBP基因中含较长CAG重复序列的等位基因(R=-0.197,P=0.034)的CAG重复序列的长度均呈负相关。在携带含CAG重复序列的ATXN3、CACNA1A、ATXN7、TBP和RAI1基因的SCA2患者中也检测到AAO延迟的趋势。此外,ATXN7基因和ATXN2基因的CAG重复序列的长度在A-SCA2组和PD-SCA2组之间的差异有统计学意义(均P<0.05)。结论:ATXN2中的CAG重复序列是影响中国SCA2患者AAO的主要遗传因素。ATXN3、CACNA1A、ATXN7、TBP和RAI1基因的CAG重复序列的长度可能是与SCA2的AAO相关的因素。ATXN7基因中的CAG重复序列的长度可能是SCA2患者表现为帕金森综合征的影响因素之一。
