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The identification of genomic markers in the first intron of the leprel 1 gene which predict resistance or susceptibilty to fibrotic disorders
The identification of genomic markers in the first intron of the leprel 1 gene which predict resistance or susceptibilty to fibrotic disorders
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机译：Leprel 1基因第一个内含子中可预测对纤维化疾病的耐药性或易感性的基因组标记物的鉴定
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摘要
A quantitative PCR method was used to genotype for the presence of a copy number variation (CNV) present in the first intron sequence of the LEPREL1 gene which encodes a prolyl 3- hydroxylase involved in collagen biosynthesis and an association with firbrotic diseases was established. In particular these CNVs are in Transforming growth factor beta (TGFb) enhancer sites. Identification of these CNVs is suggested as a marker for diagnosis and prognosis, including identifying patients as drug responders, for a range of scarring and fibrosis conditions including chronic kidney disease, pulmonary fibrosis, cardiac failure, and scleroderma.
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