Dataset Information

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

ABSTRACT: Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of FSS risk with the genetic loci associated with human height in previous GWAS, alone and cumulatively. We systematically evaluated 34 known human height single nucleotide polymorphisms (SNPs) in relation to FSS in the additive model (p?

SUBMITTER: Lin YJ

PROVIDER: S-EPMC5527114 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature

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Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Lin Ying-Ju YJ Liao Wen-Ling WL Wang Chung-Hsing CH Tsai Li-Ping LP Tang Chih-Hsin CH Chen Chien-Hsiun CH Wu Jer-Yuarn JY Liang Wen-Miin WM Hsieh Ai-Ru AR Cheng Chi-Fung CF Chen Jin-Hua JH Chien Wen-Kuei WK Lin Ting-Hsu TH Wu Chia-Ming CM Liao Chiu-Chu CC Huang Shao-Mei SM Tsai Fuu-Jen FJ

Scientific reports 20170725 1

Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of ...[more]

PMID: 28744006

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Project description:ObjectiveACAN gene variants are an important cause of familial short stature (FSS). Appropriate growth-promoting therapies effectively improve the patient height. Here, we report a therapeutic assessment of cases of seven families of FSS patients with heterozygous ACAN variants. Our findings provide a valuable theoretical basis for the clinical diagnosis and treatment of this disease.MethodsFrom December 2020 to June 2021, 32 FSS patients were examined in Tianjin Medical University General Hospital (Tianjin, China) by whole-exome sequencing to determine whether ACAN variants were present. Their clinical data were summarized and scrupulously analyzed.ResultsWe found seven novel heterozygous ACAN variants: c.1051 + 2T > A, c.313T > C (p.S105P), c.2660C > G (p.S887X), c.2153C > A (p. T718K), c.7243delG (p.D2415Tfs*4), c.2911G > T (p.G971X), c.758-7T > C. All seven patients had proportionate short stature and mild skeletal dysplasia. Endocrine examination results were normal. Only one of the patients had an advanced bone age (1.1 years older than chronological age), whereas the other patients had normal bone ages. All of them had a family history of short stature, with or without osteoarthritis or intervertebral disc disease. All seven patients accepted treatment with recombinant human growth hormone (rhGH) and were regularly followed up. One patient did not come at the follow-up visit. The height of the remaining six patients before and after the treatment was -2.89 ± 0.68 SDS, -1.91 ± 0.93 SDS, respectively, with a treatment course of 1.85 ± 1.91 years. A good therapeutic response was observed in all of them.ConclusionsIn this study, seven novel heterozygous variants in ACAN were discovered, which expanded the spectrum of the already established ACAN pathogenic variants. In FSS cohort, the proportion of ACAN variants accounted was large. The treatment with rhGH effectively increased the patient height, but further studies with longer follow-up periods and more extensive observations are required to elucidate the long-term effect.

Dataset Information

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Publications

Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Similar Datasets

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