Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Lai, Yen‐Chein; Wang, Wen Chung; Yang, Jiann‐Jou; Li, Shuan‐Yow

doi:10.1007/s10815-009-9325-7

Cited by 5 publications

(1 citation statement)

References 18 publications

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“…Twelve examples of candidate genetic loci associated with male fertility presented according to our proposed standardized format are in Tables 3 and 4 [ Aston and Carrell 2009;Mashayekhi and Hadiyan 2012;Lai et al 2009;Lian et al 2009;Tüttelmann et al 2011;Escoffier et al 2015;Shen et al 2013;Lu et al 2013;Ramasamy et al 2014;Yakut et al 2013;He et al 2014;Luo et al 2014;Krausz et al 2012]. The presented results enable insight into a large range of published data.…”

Section: Initiative For Standardization Of Reporting Genetics Of Malementioning

confidence: 99%

Initiative for standardization of reporting genetics of male infertility

Traven

Ogrinc

Kunej

2016

Systems Biology in Reproductive Medicine

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The number of publications on research of male infertility is increasing. Technologies used in research of male infertility generate complex results and various types of data that need to be appropriately managed, arranged, and made available to other researchers for further use. In our previous study, we collected over 800 candidate loci for male fertility in seven mammalian species. However, the continuation of the work towards a comprehensive database of candidate genes associated with different types of idiopathic human male infertility is challenging due to fragmented information, obtained from a variety of technologies and various omics approaches. Results are published in different forms and usually need to be excavated from the text, which hinders the gathering of information. Standardized reporting of genetic anomalies as well as causative and risk factors of male infertility therefore presents an important issue. The aim of the study was to collect examples of diverse genomic loci published in association with human male infertility and to propose a standardized format for reporting genetic causes of male infertility. From the currently available data we have selected 75 studies reporting 186 representative genomic loci which have been proposed as genetic risk factors for male infertility. Based on collected and formatted data, we suggested a first step towards unification of reporting the genetics of male infertility in original and review studies. The proposed initiative consists of five relevant data types: 1) genetic locus, 2) race/ethnicity, number of participants (infertile/controls), 3) methodology, 4) phenotype (clinical data, disease ontology, and disease comorbidity), and 5) reference. The proposed form for standardized reporting presents a baseline for further optimization with additional genetic and clinical information. This data standardization initiative will enable faster multi-omics data integration, database development and sharing, establishing more targeted hypotheses, and facilitating biomarker discovery.

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Section: Initiative For Standardization Of Reporting Genetics Of Malementioning

confidence: 99%

Initiative for standardization of reporting genetics of male infertility

Traven

Ogrinc

Kunej

2016

Systems Biology in Reproductive Medicine

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PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Soloveva,

Skleimova,

Minaycheva

et al. 2024

J Assist Reprod Genet

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Genetic causes of spermatogenic failure

Massart¹,

Lissens²,

Tournaye³

et al. 2011

Asian J Androl

167

124

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Approximately 10%-15% of couples are infertile, and a male factor is involved in almost half of these cases. This observation is due in part to defects in spermatogenesis, and the underlying causes, including genetic abnormalities, remain largely unknown. Until recently, the only genetic tests used in the diagnosis of male infertility were aimed at detecting the presence of microdeletions of the long arm of the Y chromosome and/or chromosomal abnormalities. Various other single-gene or polygenic defects have been proposed to be involved in male fertility. However, their causative effects often remain unproven. The recent evolution in the development of whole-genome-based techniques and the large-scale analysis of mouse models might help in this process. Through knockout mouse models, at least 388 genes have been shown to be associated with spermatogenesis in mice. However, problems often arise when translating this information from mice to humans.

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Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Cited by 5 publications

References 18 publications

Initiative for standardization of reporting genetics of male infertility

Initiative for standardization of reporting genetics of male infertility

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

Genetic causes of spermatogenic failure

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