Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482

被引：0

作者：

Liubov O. Skorodumova

Alexandra V. Belodedova

Elena I. Sharova

Elena S. Zakharova

Liliia N. Iulmetova

Mukharram M. Bikbov

Emin L. Usubov

Olga P. Antonova

Oksana V. Selezneva

Anastasia Levchenko

Olga Yu Fedorenko

Svetlana A. Ivanova

Raul R. Gainetdinov

Boris E. Malyugin

机构：

[1] Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency,Laboratory of Human Molecular Genetics

[2] S. Fyodorov Eye Microsurgery Complex Federal State Institution,Department of Anterior Segment Transplant and Optical Reconstructive Surgery

[3] Ufa Eye Research Institute,Department of Surgery of the Cornea and Lens

[4] Academy of Sciences of the Republic of Bashkortostan,Laboratory for Genomic Research and Computational Biology

[5] Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency,Laboratory of Molecular Genetics and Biochemistry

[6] Theodosius Dobzhansky Center for Genome Bioinformatics,Division for Testing and Diagnostics

[7] Saint Petersburg State University,Addiction Psychiatry and Psychotherapy Department

[8] Mental Health Research Institute,Laboratory of Neuroscience and Molecular Pharmacology

[9] Tomsk National Research Medical Center,undefined

[10] Russian Academy of Sciences,undefined

[11] National Research Tomsk Polytechnic University,undefined

[12] Siberian State Medical University,undefined

[13] Institute of Translational Biomedicine and Saint Petersburg State University Hospital,undefined

[14] Saint Petersburg State University,undefined

来源：

BMC Ophthalmology | / 21卷

关键词：

Keratoconus; Cornea; SNP; GWAS; Genotyping; Promoter; COL5A1; MPDZ; FOXO1;

D O I：

暂无

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学科分类号：

摘要：

引用

共 4 条

[1] Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
Skorodumova, Liubov O.
Belodedova, Alexandra, V
Sharova, Elena, I
Zakharova, Elena S.
Iulmetova, Liliia N.
Bikbov, Mukharram M.
Usubov, Emin L.
Antonova, Olga P.
Selezneva, Oksana, V
Levchenko, Anastasia
Fedorenko, Olga Yu
Ivanova, Svetlana A.
Gainetdinov, Raul R.
Malyugin, Boris E.
BMC OPHTHALMOLOGY, 2021, 21 (01)
[2] The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum-Convergence of Extracellular Matrix Pathologies
Bryant, Griffin
Moore, Peyton
Sathyamoorthy, Mohanakrishnan
MEDICINA-LITHUANIA, 2024, 60 (06):
[3] Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families
Ramagopalan, Sreeram V.
Morrison, Katie M.
Para, Andrea
Handel, Adam
Disanto, Giulio
Handunnetthi, Lahiru
Orton, Sarah M.
Sadovnick, A. Dessa
Ebers, George C.
JOURNAL OF NEUROIMMUNOLOGY, 2009, 212 (1-2) : 142 - 144
[4] A single nucleotide polymorphism in COL23A1 gene (rs2973744) is associated with eczema herpeticum and increased susceptibility of human macrophages to HSV-1 infection
Makmatov-Rys, M.
Roesner, L. M.
Zeitvogel, J.
Traidl, S.
Chopra, S.
Doehner, K.
Rodriguez, E.
Harder, I.
Sodeik, B.
Weidinger, S.
Schulz, T.
Werfel, T.
ALLERGOLOGIE, 2023, 46 (02) : 138 - 138

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