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Relationships among androgen receptor cag repeat polymorphism, sex hormones and penile length in Han adult men from China： a cross-sectional study

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Asian Journal of Andrology 2014年第3期16卷 478-481页

作者： Yan-Min Ma Kai-Jie Wu Liang Ning Jin Zeng Bo Kou Hong-Jun Xie Zhen-Kun Ma Xin-Yang Wang Yong-Guang Gong Da-Lin He Department of Urology First Affiliated Hospital of Medical School Xi'an Jiaotong University Xi'an Oncology Research Lab Key Laboratory of Environment and Genes Related to Diseases Ministry of Education of the People's Republic of China Xi'an China.

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.

关键词： androgen receptor cag repeat testosterone prolactin penile length

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Integrated analysis on transcriptome and behaviors defines HTT repeat-dependent network modules in Huntington's disease

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Genes & Diseases 2022年第2期9卷 479-493页

作者： Lulin Huang Li Fang Qian Liu Abolfazl Doostparast Torshizi Kai Wang The Key Laboratory for Human Disease Gene Study of Sichuan Province Department of Clinical LaboratorySichuan Provincial People's HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaChengduSichuan 610054PR China Raymond G.Perelman Center for Cellular and Molecular Therapeutics Children's Hospital of PhiladelphiaPhiladelphiaPA 19104USA

Huntington's disease(HD)is caused by a cag repeat expansion in the huntingtin(HTT)***-in mice carrying a cag repeat-expanded Htt will develop HD *** studies suggested dysregulated molecular networks in a cag length genotype-and the age-dependent manner in brain tissues from knock-in mice carrying expanded Htt cag ***,a large-scale phenome analysis defined a behavioral signature for HD genotype in knock-in mice carrying expanded Htt cag ***,an integrated analysis correlating phenotype features with genotypes(cag repeat expansions)was not conducted *** this study,we revealed the landscape of the behavioral features and gene expression correlations based on 445 mRNA samples and 445 microRNA samples,together with behavioral features(396 PhenoCube behaviors and 111 NeuroCube behaviors)in Htt cag-knock-in *** identified 37 behavioral features that were significantly associated with cag repeat length including the number of steps and hind limb stand *** behavioral features were associated with several gene coexpression groups involved in neuronal dysfunctions,which were also supported by the single-cell RNA sequencing data in the striatum and the spatial gene expression in the *** also identified 15 chemicals with significant responses for genes with enriched behavioral features,most of them are agonist or antagonist for dopamine receptors and serotonin receptors used for neurology/*** study provides further evidence that abnormal neuronal signal transduction in the striatum plays an important role in causing HD-related phenotypic behaviors and provided rich information for the further pharmacotherapeutic intervention possibility for HD.

关键词： Behaviors cag repeat Huntington’s disease Mice Single-cell RNA sequencing Small chemicals Striatum Transcriptome

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Phenotypic heterogeneity of mutations in androgen receptor gene

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Asian Journal of Andrology 2007年第2期9卷 147-179页

作者： Singh Rajender Lalji Singh Kumarasamy Thangaraj Centre for Cellular and Molecular Biology Hyderabad 500007 India

Androgen receptor （AR） gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat （cag and GGN） length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.

关键词： androgen receptor androgen insensitivity prostate cancer breast cancer cag repeat GGN repeat

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Examination of Huntington's disease in a Chinese family

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Neural Regeneration Research 2014年第4期9卷 440-446页

作者： Mingxia Yu Xiaogai Li Sanyun Wu Ji Shen Jiancheng Tu Department of Clinical Laboratory Medicine & Center for Gene Diagnosis Zhongnan Hospital of Wuhan University

We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington＇s disease. Among 17 family members across three generations, four patients （Ⅱ2, Ⅱ6, Ⅲ5, and Ⅲ9） show typical Huntington＇s disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members （Ⅱ2, Ⅱ6, and Ⅲ5）. Moreover, genetic analysis identified abnormally amplified cag sequence repeats （〉 40） in two members （Ⅲ5 and Ⅲ9）. Among borderline cases, with clinical symptoms and brain imaging features of Huntington＇s disease, two cases were identified （Ⅱ2 and Ⅱ6）, but shown by mutation analysis for cag expansions in the important transcript 15 gene, to be non-Huntington＇s disease. Our findings suggest that clinical diagnosis of Huntington＇s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

关键词： nerve regeneration neurodegenerative disease Huntington's disease clinical symptoms imaging genetic diagnosis IT15 gene cag repeat neural regeneration

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Androgen insensitivity syndrome： do trinucleotide repeats in androgen receptor gene have any role？

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Asian Journal of Andrology 2008年第4期10卷 616-624页

作者： Singh Rajender Nalini J. Gupta Baidyanath Chakravarty Lalji Singh Kumarasamy Thangaraj Centre for Cellular and Molecular Biology Uppal Road Hyderabad 500007 India Institute of Reproductive Medicine Salt Lake Kolkata PN 700064 India Division of Endocrinology Central Drug Research Institute Lucknow India

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.

关键词： androgen receptor cag repeat GGN repeat androgen insensitivity

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