Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen

Li, Yanqin; Zhang, Shie; Wang, Yanzhou; Ren, Xiu Bao; Han, Jinxiang

doi:10.5582/irdr.2019.01064

Cited by 30 publications

(29 citation statements)

References 106 publications

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“…Previous studies categorize OI into four subtypes (types I–IV) based on clinical findings, inheritance patterns, and radiographic features: OI type I is the mildest form, OI type II is the perinatal lethal form, while OI type III is the most severe form, and OI type IV is characterized by the mild to moderate form (Sillence et al, 1979; Rauch et al, 2010; Lin et al, 2015; Mrosk et al, 2018). With an in-depth understanding of OI disease, more subtypes have been defined and added into OI’s original classification system, making the number of subtypes updated to 18 (Forlino and Marini, 2016; Marini et al, 2017; Lu et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

et al. 2019

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Osteogenesis imperfecta (OI), mainly caused by structural abnormalities of type I collagen, is a hereditary rare disease characterized by increased bone fragility and reduced bone mass. Clinical manifestations of OI mostly include multiple repeated bone fractures, thin skin, blue sclera, hearing loss, cardiovascular and pulmonary system abnormalities, triangular face, dentinogenesis imperfecta (DI), and walking with assistance. Currently, 20 causative genes with 18 subtypes have been identified for OI, of them, variations in COL1A1 and COL1A2 have been demonstrated to be major causative factors to OI. However, the complexity of the bone formation process indicates that there are potential new pathogenic genes associated with OI. To comprehensively explore the underlying mechanism of OI, we conducted association analysis between genotypes and phenotypes of OI diseases and found that mutations in COL1A1 and COL1A2 contributed to a large proportion of the disease phenotypes. We categorized the clinical phenotypes and the genotypes based on the variation types for those 155 OI patients collected from literature, and association study revealed that three phenotypes (bone deformity, DI, walking with assistance) were enriched in two variation types (the Gly-substitution missense and groups of frameshift, nonsense, and splicing variations). We also identified four novel variations (c.G3290A (p.G1097D), c.G3289C (p.G1097R), c.G3289A (p.G1097S), c.G3281A (p.G1094D)) in gene COL1A1 and two novel variations (c.G2332T (p.G778C), c.G2341T (p.G781C)) in gene COL1A2, which could potentially contribute to the disease. In addition, we identified several new potential pathogenic genes (ADAMTS2, COL5A2, COL8A1) based on the integration of protein–protein interaction and pathway enrichment analysis. Our study provides new insights into the association between genotypes and phenotypes of OI and novel information for dissecting the underlying mechanism of the disease.

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Section: Introductionmentioning

confidence: 99%

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

et al. 2019

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“…Osteogenesis imperfect (OI), also known as brittle bone disease, is a genetic connective tissue disorder with genetic and phenotypic diversity (Friedrich, Scheuer & Holtje, 2019;Subramanian & Viswanathan, 2019). Nearly 85% of OI patients belong to type I to type IV of OI, which is induced by COL1A1 and COL1A2 genes encoding proα1(I) and proα2(I) of type I procollagen in an autosomal-dominant inherited form (Lu et al, 2019). Type II collagen is of major importance in endochondral bone formation, growth, and normal joint function, and one of the clinical manifestations of type II collagen disease is skeletal dysplasia (Gregersen & Savarirayan, 1993).…”

Section: Discussionmentioning

confidence: 99%

Peer Review #2 of "Transcriptome for the breast muscle of Jinghai yellow chicken at early growth stages (v0.1)"

2020

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Background: The meat quality of yellow feathered broilers is better than the quality of its production. Growth traits are important in the broiler industry. The exploration of regulation mechanisms for the skeletal muscle would help to increase the growth performance of chickens. At present, some progress has been made by researchers, but the molecular mechanisms of the skeletal muscle still remain unclear and need to be improved. Methods: In this study, the breast muscles of fast-and slow-growing female Jinghai yellow chickens (F4F, F8F, F4S, F8S) and slow-growing male Jinghai yellow chickens (M4S, M8S) aged four and eight weeks were selected for transcriptome sequencing (RNAseq). All analyses of differentially expressed genes (DEGs) and functional enrichment were performed. Finally, we selected nine DEGs to verify the accuracy of the sequencing by qPCR. Results: The differential gene expression analysis resulted in 364, 219 and 111 DEGs (adjusted P-value ≤0.05) for the three comparison groups, F8FvsF4F, F8SvsF4S, and M8SvsM4S, respectively. Three common DEGs (ADAMTS20, ARHGAP19, and Novel00254) were found , and they were all highly expressed at four weeks of age. In addition, some other genes related to growth and development, such as ANXA1, COL1A1, MYH15, TGFB3 and ACTC1, were obtained. The most common DEGs (n =58) were found between the two comparison groups F8FvsF4F and F8SvsF4S, and they might play important roles in the growth of female chickens. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway also showed some significant enrichment pathways, for instance, extracellular matrix (ECM)-receptor interaction, focal adhesion, cell cycle, and DNA replication. The two pathways that were significantly enriched in the F8FvsF4F group were all contained in that of F8SvsF4S. The same two pathways were ECM-receptor interaction and focal adhesion, and they had great influence on the growth of chickens. However, many differences existed between male and female chickens in regards to common DEGs and KEGG pathways. The results would help to reveal the regulation mechanism of the growth and

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“…Its variants may also partially affect the development of valves and their proper functioning. It has been demonstrated that osteogenesis imperfecta in humans, which is characterized by a tendency for bone fractures, is caused by mutations in either the COL1A1 or COL1A2 genes encoding type I collagen [ 15 ]. It should also be noted that these patients sometimes develop aortic dissection [ 28 ] and, in addition, cases of the Ehlers-Danlos heart valve syndrome associated with genetic variants in various COL1A1 -related genes have been described [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

“…The type I collagen-related diseases are characterized by a wide spectrum of diseases and high clinical variability, whose genetic basis is still poorly understood. Several candidate genes have been identified as being associated with thoracic aortic aneurysms and bicuspid aortic valve (BAV) [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Polymorphisms ofMMP1,MMP9,COL1A1, andCOL1A2in Polish Patients with Thoracic Aortopathy

et al. 2020

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Background. The pathogenesis of thoracic aortopathy is complex, and much evidence suggests the influence of genetic factors. Some genes with polymorphisms are widely considered critical factors in the initiation and development of aortic aneurysm. The aim of our study was to analyze the association of genetic polymorphisms of MMP1 rs1799750 (c.-1607G>GG), MMP9 rs3918242 (c.-1562C>T), COL1A1 rs1800012 (c.1245G>T), and COL1A2 rs42524 (c.1645G>C) with predisposition to thoracic aortopathy in Polish patients and with clinical characteristics of these patients. Methods. The study was carried out with 96 patients with thoracic aortopathy (47 patients with ascending aortic aneurysm and 49 patients with thoracic aortic dissection) and 61 control subjects without thoracic aortopathy. The MMP1, MMP9, COL1A1, and COL1A2 polymorphisms were determined by PCR-RFLP. Results. No significant differences in the frequency distributions of MMP1, MMP9, COL1A1, and COL1A2 genotypes or alleles were found (1) between the control group and patients with ascending aortic aneurysm (AsAA), (2) between the control group and patients with thoracic aortic dissection (TAD), or (3) between AsAA and TAD patients. Multivariate logistic regression analysis revealed that MMP1 and MMP9 polymorphisms were associated with the degree of aortic valve regurgitation. Conclusion. The results of our study did not support associations between MMP1, MMP9, COL1A1, and COL1A2 genetic variants with the risk of thoracic artery disease in Polish patients. However, rs1799750 MMP1 and rs3918242 MMP9 seem to be associated with the degree of aortic regurgitation.

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Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen

Cited by 30 publications

References 106 publications

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

Genotype–Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease

Peer Review #2 of "Transcriptome for the breast muscle of Jinghai yellow chicken at early growth stages (v0.1)"

Genetic Polymorphisms ofMMP1,MMP9,COL1A1, andCOL1A2in Polish Patients with Thoracic Aortopathy

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