Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays
Abstract The single nucleotide polymorphisms (SNPs) of complement factor H (CFH) gene are well-known genetic risk factors for age-related macular degeneration (AMD). To identify whether the measurement of plasma protein concentrations of CFH variants using the multiple reaction monitoring (MRM) assa...
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| Format: | Article |
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Nature Portfolio
2022-11-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-022-20936-8 |
| _version_ | 1798016897053097984 |
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| author | Kyoung Lae Kim Hyerim Kim Youngju Lee Cheolju Lee Kwangsic Joo Sang Jun Park Kyu Hyung Park Seong-Jun Park Se Joon Woo |
| author_facet | Kyoung Lae Kim Hyerim Kim Youngju Lee Cheolju Lee Kwangsic Joo Sang Jun Park Kyu Hyung Park Seong-Jun Park Se Joon Woo |
| author_sort | Kyoung Lae Kim |
| collection | DOAJ |
| description | Abstract The single nucleotide polymorphisms (SNPs) of complement factor H (CFH) gene are well-known genetic risk factors for age-related macular degeneration (AMD). To identify whether the measurement of plasma protein concentrations of CFH variants using the multiple reaction monitoring (MRM) assay can determine the genotypes of CFH SNP rs1061170 and rs800292, 120 patients with AMD and 26 controls were included in this study. The number of cases were TT:TC:CC = 121:24:1 in CFH SNP Y402H and GG:AG:AA = 72:57:17 in CFH SNP I62V. Plasma concentrations of tryptic peptides were measured using the MRM assay, and tyrosine/histidine (Y/H) and valine/isoleucine (V/I) CFH variant protein ratios were obtained. To discriminate the genotypes by the plasma protein ratios, cut-off values were set for Y/H ratios (TT: > 4.428; TC: 1.00–4.428; CC: < 1.00) and V/I ratios (GG: > 1.09; AG: 0.0089–1.08; AA: < 0.0089). Correlation analysis revealed that the plasma CFH variant protein ratios and genotypes of CFH were exactly matched (100%) without overlap in the total patients and controls. The measurement of plasma protein CFH variants using the MRM assay can accurately identify the genotypes of CFH SNPs of Y402H and I62V. |
| first_indexed | 2024-04-11T15:56:49Z |
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| id | doaj.art-6eca0d860cac4fbba90642f57728b0cb |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-11T15:56:49Z |
| publishDate | 2022-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-6eca0d860cac4fbba90642f57728b0cb2022-12-22T04:15:07ZengNature PortfolioScientific Reports2045-23222022-11-011211910.1038/s41598-022-20936-8Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assaysKyoung Lae Kim0Hyerim Kim1Youngju Lee2Cheolju Lee3Kwangsic Joo4Sang Jun Park5Kyu Hyung Park6Seong-Jun Park7Se Joon Woo8Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang HospitalDepartment of Research, RetiMark Co., LtdDepartment of Research, RetiMark Co., LtdCenter for Theragnosis, Korea Institute of Science and TechnologyDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang HospitalDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang HospitalDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang HospitalDepartment of Research, RetiMark Co., LtdDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang HospitalAbstract The single nucleotide polymorphisms (SNPs) of complement factor H (CFH) gene are well-known genetic risk factors for age-related macular degeneration (AMD). To identify whether the measurement of plasma protein concentrations of CFH variants using the multiple reaction monitoring (MRM) assay can determine the genotypes of CFH SNP rs1061170 and rs800292, 120 patients with AMD and 26 controls were included in this study. The number of cases were TT:TC:CC = 121:24:1 in CFH SNP Y402H and GG:AG:AA = 72:57:17 in CFH SNP I62V. Plasma concentrations of tryptic peptides were measured using the MRM assay, and tyrosine/histidine (Y/H) and valine/isoleucine (V/I) CFH variant protein ratios were obtained. To discriminate the genotypes by the plasma protein ratios, cut-off values were set for Y/H ratios (TT: > 4.428; TC: 1.00–4.428; CC: < 1.00) and V/I ratios (GG: > 1.09; AG: 0.0089–1.08; AA: < 0.0089). Correlation analysis revealed that the plasma CFH variant protein ratios and genotypes of CFH were exactly matched (100%) without overlap in the total patients and controls. The measurement of plasma protein CFH variants using the MRM assay can accurately identify the genotypes of CFH SNPs of Y402H and I62V.https://doi.org/10.1038/s41598-022-20936-8 |
| spellingShingle | Kyoung Lae Kim Hyerim Kim Youngju Lee Cheolju Lee Kwangsic Joo Sang Jun Park Kyu Hyung Park Seong-Jun Park Se Joon Woo Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays Scientific Reports |
| title | Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays |
| title_full | Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays |
| title_fullStr | Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays |
| title_full_unstemmed | Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays |
| title_short | Proteomic genotyping of SNP of Complement Factor H (CFH) Y402H and I62V using multiple reaction monitoring (MRM) assays |
| title_sort | proteomic genotyping of snp of complement factor h cfh y402h and i62v using multiple reaction monitoring mrm assays |
| url | https://doi.org/10.1038/s41598-022-20936-8 |
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