ACAN Repeat Number Polymorphism in Patients with Idiopathic Short Stature.

IF 1.7 4区生物学 Q4 CELL BIOLOGY

Cytogenetic and Genome Research Pub Date : 2025-06-13 DOI:10.1159/000545736

Sayuri Nakamura, Yoko Kuroki, Kyongsun Pak, Tsutomu Kamimaki, Takahiro Mochizuki, Akira Ishiguro, Maki Fukami

{"title":"ACAN Repeat Number Polymorphism in Patients with Idiopathic Short Stature.","authors":"Sayuri Nakamura, Yoko Kuroki, Kyongsun Pak, Tsutomu Kamimaki, Takahiro Mochizuki, Akira Ishiguro, Maki Fukami","doi":"10.1159/000545736","DOIUrl":null,"url":null,"abstract":"Introduction: Idiopathic short stature (ISS) refers to non-syndromic growth failure without chronic disorders. The molecular basis of ISS remains largely unknown. Although a variable number of tandem repeats (VNTR) of 57 nucleotides in ACAN is known to correlate with the height of people in the general population, the role of this genetic variant in the etiology of ISS has not been studied.Methods: We studied 128 Japanese patients with ISS, including 63 patients with prenatal and postnatal growth failure (small-for-gestational age-SS, SGA-SS), and 100 control individuals. To examine the repeat numbers of ACAN VNTR, we amplified the VNTR-containing genomic region and analyzed the PCR products by gel electrophoresis. The accuracy of the results was confirmed by long-read next-generation sequencing.Results: The repeat numbers of the patient group were similarly distributed to those of the control group, and no patient had a very small number. Moreover, the repeat numbers of the shorter and longer alleles in each individual, as well as the average number of the two alleles, were comparable between the two groups. The height standard deviation scores obtained from 106 patients did not correlate with the repeat numbers. There was no difference in the repeat numbers between the SGA-SS or non-SGA ISS groups, and the control group.Conclusion: The results of this study indicate that reduced repeat numbers of ACAN VNTR do not represent a monogenic cause or a major contributing factor for ISS. Our findings await further validation.","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"1-14"},"PeriodicalIF":1.7000,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cytogenetic and Genome Research","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1159/000545736","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CELL BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Idiopathic short stature (ISS) refers to non-syndromic growth failure without chronic disorders. The molecular basis of ISS remains largely unknown. Although a variable number of tandem repeats (VNTR) of 57 nucleotides in ACAN is known to correlate with the height of people in the general population, the role of this genetic variant in the etiology of ISS has not been studied.

Methods: We studied 128 Japanese patients with ISS, including 63 patients with prenatal and postnatal growth failure (small-for-gestational age-SS, SGA-SS), and 100 control individuals. To examine the repeat numbers of ACAN VNTR, we amplified the VNTR-containing genomic region and analyzed the PCR products by gel electrophoresis. The accuracy of the results was confirmed by long-read next-generation sequencing.

Results: The repeat numbers of the patient group were similarly distributed to those of the control group, and no patient had a very small number. Moreover, the repeat numbers of the shorter and longer alleles in each individual, as well as the average number of the two alleles, were comparable between the two groups. The height standard deviation scores obtained from 106 patients did not correlate with the repeat numbers. There was no difference in the repeat numbers between the SGA-SS or non-SGA ISS groups, and the control group.

Conclusion: The results of this study indicate that reduced repeat numbers of ACAN VNTR do not represent a monogenic cause or a major contributing factor for ISS. Our findings await further validation.

查看原文本刊更多论文

特发性身材矮小患者的ACAN重复数多态性

特发性身材矮小（ISS）是指无慢性疾病的非综合征性生长衰竭。国际空间站的分子基础在很大程度上仍然未知。虽然已知ACAN中57个核苷酸的可变数目串联重复序列（VNTR）与一般人群的身高相关，但该遗传变异在ISS病因学中的作用尚未研究。方法：我们研究了128名日本ISS患者，包括63名产前和产后生长衰竭（小胎龄ss， SGA-SS）患者和100名对照组。为了检测ACAN VNTR的重复数，我们扩增了含有VNTR的基因组区域，并通过凝胶电泳分析PCR产物。结果的准确性被长读下一代测序证实。结果：患者组的重复次数分布与对照组相似，没有患者的重复次数非常少。此外，每个个体中较短和较长等位基因的重复数以及两个等位基因的平均数量在两组之间具有可比性。106例患者的身高标准差评分与重复次数无关。SGA-SS组或非sga - ISS组与对照组的重复次数无差异。结论：本研究结果表明，ACAN VNTR重复次数减少并不代表单基因原因或ISS的主要促成因素。我们的发现有待进一步验证。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Cytogenetic and Genome Research 生物-细胞生物学

CiteScore

3.10

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： During the last decades, ''Cytogenetic and Genome Research'' has been the leading forum for original reports and reviews in human and animal cytogenetics, including molecular, clinical and comparative cytogenetics. In recent years, most of its papers have centered on genome research, including gene cloning and sequencing, gene mapping, gene regulation and expression, cancer genetics, comparative genetics, gene linkage and related areas. The journal also publishes key papers on chromosome aberrations in somatic, meiotic and malignant cells. Its scope has expanded to include studies on invertebrate and plant cytogenetics and genomics. Also featured are the vast majority of the reports of the International Workshops on Human Chromosome Mapping, the reports of international human and animal chromosome nomenclature committees, and proceedings of the American and European cytogenetic conferences and other events. In addition to regular issues, the journal has been publishing since 2002 a series of topical issues on a broad variety of themes from cytogenetic and genome research.