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200 1 _aRare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
_fL. O. Skorodumova, A. V. Belodedova, E. I. Sharova [et al.]
203 _aText
_celectronic
300 _aTitle screen
320 _a[References: 41 tit.]
330 _aBackground: Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurrence of single-nucleotide polymorphisms (SNPs) associated with keratoconus in Russian patients is poorly studied. The purpose of this study was to validate whether three reported keratoconus-associated SNPs (rs1536482 near the COL5A1 gene, rs2721051 near the FOXO1 gene, rs1324183 near the MPDZ gene) are also actual for a Russian cohort of patients. Additionally, we investigated the COL5A1 promoter sequence for single-nucleotide variants (SNVs) in a subgroup of keratoconus patients with at least one rs1536482 minor allele (rs1536482+) to assess the role of these SNVs in keratoconus susceptibility associated with rs1536482. Methods: This case-control study included 150 keratoconus patients and two control groups (main and additional, 205 and 474 participants, respectively). We performed PCR targeting regions flanking SNVs and the COL5A1 promoter, followed by Sanger sequencing of amplicons. The additional control group was genotyped using an SNP array. Results: The minor allele frequency was significantly different between the keratoconus and control cohorts (main and combined) for rs1536482, rs2721051, and rs1324183 (p-value < 0.05). The rare variants rs1043208782 and rs569248712 were found in the COL5A1 promoter in two out of 94 rs1536482+ keratoconus patients. Conclusion: rs1536482, rs2721051, and rs1324183 were associated with keratoconus in a Russian cohort. SNVs in the COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.
461 _tBMC Ophthalmology
463 _tVol. 21, iss. 1
_v[357, 9 p.]
_d2021
610 1 _aэлектронный ресурс
610 1 _aтруды учёных ТПУ
610 1 _akeratoconus
610 1 _acornea
610 1 _aSNP
610 1 _aGWAS
610 1 _agenotyping
610 1 _apromoter
610 1 _aCOL5A1
610 1 _aMPDZ
610 1 _aFOXO1
610 1 _aроговица
610 1 _aгенотипы
701 1 _aSkorodumova
_bL. O.
_gLyubov Olegovna
701 1 _aBelodedova
_bA. V.
_gAleksandra Vladimirovna
701 1 _aSharova
_bE. I.
_gElena Ivanovna
701 1 _aZakharova
_bE. S.
_gElena Sergeevna
701 1 _aYulmetova
_bL. N.
_gLiliya Nailevna
701 1 _aBikbov
_bM. M.
_gMukharram Mukhtaramovich
701 1 _aUsubov
_bE. M.
_gEmin Logmanovich
701 1 _aAntonova
_bO. P.
_gOlga Pavlovna
701 1 _aSelezneva
_bO. V.
_gOksana Viktorovna
701 1 _aLevchenko
_bA. Yu.
_gAnastasiya Yurjevna
701 1 _aFedorenko
_bO. Yu.
_cspecialist in the field of ecology and life safety
_cProfessor of Tomsk Polytechnic University, doctor of medical sciences
_f1973-
_gOlga Yurievna
_2stltpush
_3(RuTPU)RU\TPU\pers\33861
701 1 _aIvanova
_bS. A.
_cspecialist in the field of ecology and life safety
_cProfessor of Tomsk Polytechnic University, doctor of medical sciences
_f1964-
_gSvetlana Aleksandrovna
_2stltpush
_3(RuTPU)RU\TPU\pers\33859
712 0 2 _aНациональный исследовательский Томский политехнический университет
_bИнженерная школа неразрушающего контроля и безопасности
_bОтделение контроля и диагностики
_h7978
_2stltpush
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712 0 2 _aНациональный исследовательский Томский политехнический университет
_bШкола базовой инженерной подготовки
_bОтделение общетехнических дисциплин
_h8035
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_c20220630
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856 4 _uhttps://doi.org/10.1186/s12886-021-02128-6
942 _cCF