Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor
Abstract
:1. Introduction
2. Experimental Section
2.1. Patients
2.2. Genotyping
2.3. Variant Pathogenicity Curation
3. Results and Discussion
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Genes | Coding | Amino Acid Change | dbSNP | SIFT | PolyPhen | EMAF | ExAC ENFAF | nl-C1-INH-HAE AF | C1-INH-HAE AF | P1 | P2 | P3 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
BDKRB1 | c.721G>A | p.Gly241Arg | rs45528332 | tolerated | probably damaging | 0.0037 | 0.0052 | 0.0113 | 0.0148 | 0.1500 | 0.0350 | 0.7000 |
MME | c.674G>C | p.Gly225Ala | rs147564881 | tolerated | probably damaging | 0.0023 | 0.0033 | 0.0113 | 0.0030 | 0.0310 | 0.7400 | 0.2100 |
PLAUR | c.802A>G | p.Met268Val | rs138492321 | tolerated | possibly damaging | 0.0062 | 0.0045 | 0.0188 | 0.0000 | 0.0440 | 0.1500 | 0.0110 |
C1S | c.943G>A | p.Asp315Asn | rs117907409 | deleterious | probably damaging | 0.0053 | 0.0052 | 0.0113 | 0.0059 | 0.2400 | 0.8300 | 0.4700 |
F13B | c.1025T>C | p.Ile342Thr | rs17514281 | deleterious | possibly damaging | 0.0097 | 0.0098 | 0.0263 | 0.0059 | 0.0380 | 0.4900 | 0.0390 |
F2 | c.*97G>A | rs1799963 | 0.0080 | 0.0263 | 0.0148 | 0.0130 | 0.2600 | 0.3100 | ||||
TLR4 | c.842G>A | p.Cys281Tyr | rs137853920 | deleterious | probably damaging | 0.0044 | 0.0027 | 0.0150 | 0.0030 | 0.0420 | 0.7900 | 0.1000 |
KRT1 | c.1669A>G | p.Ser557Gly | rs77846840 | tolerated | benign | 0.0019 | 0.0263 | 0.0296 | 0.8000 | |||
SERPINE1 | c.*180C>T | rs41334349 | 0.0110 | 0.0226 | 0.0266 | 0.1400 | 0.0400 | 0.7500 | ||||
AR | c.-207C>A | rs189146053 | 0.0000 | 0.0188 | 0.0030 | <0.0001 | 0.0844 | 0.0500 | ||||
AR | c.1174C>T | p.Pro392Ser | rs201934623 | tolerated | benign | 0.0000 | 0.0041 | 0.0113 | 0.0000 | 0.0007 | 0.0500 | |
TPSAB1 | c.407A>G | p.His136Arg | rs201820654 | tolerated | benign | 0.0034 | 0.0113 | 0.0089 | 0.7600 | |||
TPSG1 | c.508G>A | p.Gly170Arg | rs117769620 | tolerated | benign | 0.0065 | 0.0073 | 0.0188 | 0.0118 | 0.0757 | 0.3893 | 0.4832 |
ELANE | c.770C>T | p.Pro257Leu | rs17216663 | tolerated | benign | 0.0108 | 0.0080 | 0.0188 | 0.0030 | 0.3062 | 0.1775 | 0.0530 |
F12 | c.418C>G | p.Leu140Val | rs35515200 | tolerated | possibly damaging | 0.0042 | 0.0033 | 0.0075 | 0.0030 | 0.4533 | 0.7904 | 0.4287 |
F12 | c.530C>T | p.Ala177Val | rs144821595 | tolerated | benign | 0.0002 | 0.0001 | 0.0075 | 0.0000 | <0.0001 | 0.7948 | 0.1103 |
ACE | c.1453C>G | p.Pro485Ala | rs202178737 | deleterious | benign | 0.0000 | 0.0001 | 0.0075 | 0.0000 | 0.0059 | 0.1103 | |
BDKRB1 | c.844C>T | p.Arg282Ter | rs145322761 | 0.0035 | 0.0038 | 0.0075 | 0.0030 | 0.4533 | 0.7904 | 0.4287 | ||
PLG | c.266G>A | p.Arg89Lys | rs143079629 | tolerated | benign | 0.0100 | 0.0108 | 0.0075 | 0.0030 | 0.7164 | 0.2177 | 0.4287 |
KLK3 | c.629C>G | p.Ser210Trp | rs61729813 | deleterious | probably damaging | 0.0110 | 0.0109 | 0.0075 | 0.0178 | 0.6223 | 0.3319 | 0.2748 |
DPP4 | c.796G>A | p.Val266Ile | rs56179129 | tolerated | benign | 0.0060 | 0.0045 | 0.0075 | 0.0000 | 0.7755 | 0.1547 | 0.1103 |
PLAU | c.1048T>C | p.Tyr350His | rs72816325 | deleterious | probably damaging | 0.0058 | 0.0059 | 0.0075 | 0.0000 | 0.7755 | 0.1547 | 0.1103 |
PLAUR | c.-87C>T | rs147665588 | 0.0060 | 0.0075 | 0.0089 | 0.7755 | 0.5702 | 0.8550 | ||||
F13A1 | c.1730C>T | p.Thr577Met | rs143711562 | tolerated | benign | 0.0029 | 0.0020 | 0.0075 | 0.0000 | 0.2930 | 0.3149 | 0.1103 |
TNF | c.251C>T | p.Pro84Leu | rs4645843 | tolerated | benign | 0.0030 | 0.0028 | 0.0075 | 0.0030 | 0.2930 | 0.9945 | 0.4287 |
GPER1 | c.14C>T | p.Ser5Phe | rs117290655 | tolerated | benign | 0.0048 | 0.0045 | 0.0075 | 0.0089 | 0.6173 | 0.4193 | 0.8550 |
MPO | c.2031-2A>C | rs35897051 | 0.0072 | 0.0071 | 0.0075 | 0.0059 | 0.9227 | 0.8391 | 0.8096 |
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Loules, G.; Parsopoulou, F.; Zamanakou, M.; Csuka, D.; Bova, M.; González-Quevedo, T.; Psarros, F.; Porebski, G.; Speletas, M.; Firinu, D.; et al. Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. J. Clin. Med. 2020, 9, 3402. https://doi.org/10.3390/jcm9113402
Loules G, Parsopoulou F, Zamanakou M, Csuka D, Bova M, González-Quevedo T, Psarros F, Porebski G, Speletas M, Firinu D, et al. Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. Journal of Clinical Medicine. 2020; 9(11):3402. https://doi.org/10.3390/jcm9113402
Chicago/Turabian StyleLoules, Gedeon, Faidra Parsopoulou, Maria Zamanakou, Dorottya Csuka, Maria Bova, Teresa González-Quevedo, Fotis Psarros, Gregor Porebski, Matthaios Speletas, Davide Firinu, and et al. 2020. "Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor" Journal of Clinical Medicine 9, no. 11: 3402. https://doi.org/10.3390/jcm9113402
APA StyleLoules, G., Parsopoulou, F., Zamanakou, M., Csuka, D., Bova, M., González-Quevedo, T., Psarros, F., Porebski, G., Speletas, M., Firinu, D., del Giacco, S., Suffritti, C., Makris, M., Vatsiou, S., Zanichelli, A., Farkas, H., & Germenis, A. E. (2020). Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor. Journal of Clinical Medicine, 9(11), 3402. https://doi.org/10.3390/jcm9113402