The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients
2.2. Genotyping
2.3. Statistical Analysis
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Mutation | Number of Carriers | Percentage | Mutation | Number of Carriers | Percentage |
---|---|---|---|---|---|
p.Gly94Asp | 25 | 13.7 | p.Ile150Thr | 5 | 2.7 |
p.Asp91Ala (heterozygous) | 14 | 7.7 | p.Gly94Cys | 4 | 2.2 |
p.Leu145Phe | 14 | 7.7 | p.Ser135Asn † | 4 | 2.2 |
p.Leu85Phe † | 11 | 6.0 | p.Thr138Ala | 3 | 1.6 |
p.Gly42Ser † | 10 | 5.5 | p.Gly11Arg | 2 | 1.1 |
p.Ala5Val † | 9 | 4.9 | p.Ala96Gly | 2 | 1.1 |
p.Asn66Ser | 7 | 3.8 | p.Asp110Tyr | 2 | 1.1 |
p.Asp12Tyr | 6 | 3.3 | p.Ile114Thr | 2 | 1.1 |
p.Glu134del | 6 | 3.3 | p.Asp125Gly | 2 | 1.1 |
p.Asn20Ser | 5 | 2.7 | p.Gly148Asp | 2 | 1.1 |
p.Gly73Ser † | 5 | 2.7 | p.Gly148Ser | 2 | 1.1 |
p.Asp91Ala (homozygous) | 5 | 2.7 | Others ‡ | 36 | 19.7 |
Whole Series | Mild Mutation Carriers | Severe Mutation Carriers | p | |
---|---|---|---|---|
Sex Female (%) Male (%) | 98 (53.6%) 85 (46.4%) | 75 (56.8%) 57 (43.2%) | 23 (45.1%) 28 (54.9%) | p = 0.15 |
Familial Status FALS (%) SALS (%) | 111 (60.7%) 72 (39.3%) | 74 (56.1%) 58 (43.9%) | 37 (72.5%) 14 (27.5%) | p = 0.04 |
Age at onset, mean [SD] | 53.7 [12.1] | 53.6 [12.1] | 53.8 [12.2] | p = 0.93 |
Site of onset Bulbar (%) Spinal (%) | 10 (5.5%) 173 (94.5%) | 8 (6.1%) 124 (93.9%) | 2 (3.9%) 49 (96.1%) | p = 0.57 |
Survival (years), median [IQR] | 7.41 [2.58-NA] | 9.02 [4.06-NA] | 1.99 [1–4.03] | p < 0.001 |
Total | 183 | 132 | 51 |
HFE Genotypes | Observed | Expected |
---|---|---|
CC | 127 | 127.1 |
CG | 51 | 50.8 |
GG | 5 | 5.1 |
Minor allele frequency | 0.17 | |
χ2 test p-value | 0.96 with 1 degree of freedom |
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Canosa, A.; Calvo, A.; Mora, G.; Moglia, C.; Brunetti, M.; Barberis, M.; Borghero, G.; Caponnetto, C.; Trojsi, F.; Spataro, R.; et al. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations. Biomedicines 2023, 11, 704. https://doi.org/10.3390/biomedicines11030704
Canosa A, Calvo A, Mora G, Moglia C, Brunetti M, Barberis M, Borghero G, Caponnetto C, Trojsi F, Spataro R, et al. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations. Biomedicines. 2023; 11(3):704. https://doi.org/10.3390/biomedicines11030704
Chicago/Turabian StyleCanosa, Antonio, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, and et al. 2023. "The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations" Biomedicines 11, no. 3: 704. https://doi.org/10.3390/biomedicines11030704