Association of variants in the CP , ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia
, , , y | 21 dic 2019
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Article Category: Original Article
Publicado en línea: 21 dic 2019
Páginas: 37 - 42
DOI: https://doi.org/10.2478/bjmg-2019-0023
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© 2019 Zarina A, Tolmane I, Krumina Z, Tutane AI, Gailite L, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Variants found in the COMMD1 gene in Wilson’s disease patients.
| Variant | rs569267407 | rs55677935 | rs9096 |
|---|---|---|---|
| Reference: NM_152516.3 | c.-68_67delTT | c.358C>T | c.492C>T |
| Reference: NP_689729.1 | – | p.Arg120Trp | p.Asp164Trp |
| Location in the |
intron 1 | exon 2 | exon 3 |
| MAF (this study) | 0.0088 | 0.0440 | 0.0968 |
| MAF (GnomAD), European (non Finnish population) | 0.0020 | 0.0215 | 0.1263 |
| 0.1469 | 0.1553 | 0.3247 |
Relation of the allelic variants in the COMMD1 gene to the Wilson’s disease phenotype.
| Variant | Allele 1 | Allele 2 | Inheritance Model | Neurological Symptoms ( |
Hepatological Symptoms ( |
|
|---|---|---|---|---|---|---|
| rs55677935 | C | T | Genotype (TT/TC/CC) | 0: TT; 0: TC; 7: CC | 1: TT; 2: TC; 39: CC | 1.0000 |
| Allele (T/C) | 0: T; 14: C | 4: T; 80: C | 1.0000 | |||
| Dominant (TT+TC/CC) | 0: TT+TC; 7: TC/CC | 3: TT+TC; 39: TC/CC | 1.0000 | |||
| Recessive (TT/TC+CC) | 0: TT/TC; 7: TC+CC | 1: TT/TC; 41: TC+CC | 1.0000 | |||
| rs9096 | T | C | Genotype (CC/CT/TT) | 0: CC; 1: CT; 6: TT | 1: CC; 6: CT; 35: TT | 1.0000 |
| Allele (C/T) | 1: C; 13: T | 8: C; 76: T | 1.0000 | |||
| Dominant (CC+CT/TT) | 1: CC+CT; 6: CT/TT | 7: CC+CT; 35: CT/TT | 1.0000 | |||
| Recessive (CC/CT+TT) | 0: CC/CT; 7: CT+TT | 1: CC/CT; 41: CT+TT | 1.0000 |
Relation of the CP gene promoter allelic variants to Wilson’s disease phenotype and the ATP7B genotype.
| Inheritance Model | ||||
|---|---|---|---|---|
| Non WDa ( |
WDb ( |
|||
| rs66508328 | Genotype (AA/AG/GG) | 2: AA; 0: AG; 10: GG | 0: AA; 7: AG; 42: GG | |
| Allele (A/G) | 4: A; 20: G | 7: A; 91: G | 0.2240 | |
| Dominant (AA+AG/GG) | 2: AA+AG; 10: AG/GG | 7: AA+AG; 42: AG/GG | 1.0000 | |
| Recessive (AA/AG+GG) | 2: AA/AG; 10: AG+GG | 0: AA/AG; 49:AG+GG | ||
| rs11708215 | Genotype (GG/GA/AA) | 2: GG; 0: GA; 10: AA | 0: GG; 17: GA; 31: AA | |
| Allele (G/A) | 4: G; 20: A | 17: G; 79: A | 1.0000 | |
| Dominant (GG+GA/AA) | 2: GG+GA; 10: GA/AA | 17: GG+GA; 31: GA/AA | 0.3059 | |
| Recessive (GG/GA+AA) | 2: GG/GA; 10: GA+AA | 0: GG/GA; 48: GA+AA | ||
Segregation of Wilson’s disease patients in the Latvian population according to their clinical findings.
| Parameters | Hepatologiacal | Neurological and/or | Mixed | |
|---|---|---|---|---|
| ( |
Psychiatric ( |
( |
||
| Level of ceruloplasmin in blood (g/dL) [median (IQR)] | 0.11 (0.08-0.13) | 0.13 (0.08-0.15) | 0.08 (0.07-0.15) | 0.562 |
| 24-hour urine copper [median (IQR)] | 197.0 (136.0-373.0) | 163.0 (96.0-268.0) | 374.0.0 (365.0-384.0) | 0.370 |
| Age of onset [average (±SD)] | 20.21(±9.10) | 29.82(±13.25) | 36.00(±8.75) | 0.066 |
Frequency of two selected allelic variants of the CP gene promoter identified in Wilson’s disease patients.
| Parameters | rs66508328 | rs11708215 |
|---|---|---|
| Alleles | G>A | A>G |
| MAF (this study) | 0.0902 | 0.1750 |
| MAF (GnomAD), European (non Finnish population) | 0.1068 | 0.2078 |
| 0.550 (1.2070) | 0.3771 (1.2369) | |
| Genotypes | 2: AA; 7: AG; 52: GG | 2: GG; 17: GA; 41: AA |
| 0.0608 | 1.0000 |