ASSOCIATION OF VARIANTS IN THE CP, ATOX1
AND COMMD1 GENES WITH WILSON DISEASE
SYMPTOMS IN LATVIA
Zarina A1,2*, Tolmane I3,4, Krumina Z2, Tutane AI1, Gailite L1
*Corresponding Author: Ms. Agnese Zarina, Scientific Laboratory of Molecular Genetics, Rīga Stradiņš
University, 16 Dzirciema Street, Riga, Latvia, LV-1007. Tel.: +371-6706-1542. Fax: +371-67-471-815.
E-mail: agnese.zarina@rsu.lv or zarina.agnese@gmail.com
page: 37
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Abstract
Wilson’s disease (WD) is a copper metabolism disorder,
caused by allelic variants in the ATP7B gene. Wilson’s
disease can be diagnosed by clinical symptoms, increased
copper and decreased cerulopasmin levels, which could all
also be by other genetic variants beyond the ATP7B gene,
e.g., disturbed ceruloplasmin biosynthesis can be caused
by pathogenic allelic variants of the CP gene. Copper metabolism
in the organism is affected by several molecules,
but pathogenic variants and related phenotypes are described
with COMMD1 and ATOX1 genes. The aim of the
study was to test other genes, CP, ATOX1 and COMMD1,
for possible influence to the manifestation of WD. Patients
were enrolled on the basis of Leipzig’s diagnostic criteria,
64 unrelated patients with confirmed WD. Direct sequencing
of promoter region of the CP gene and ATOX1 and
COMMD1 gene exons was conducted. Statistically significant
differences were found between the two variants in
the CP gene and the ATP7B genotype (rs66508328 variant
AA genotype and the rs11708215 variant GG genotype)
were more common in WD patients with an unconfirmed
ATP7B genotype. One allelic (intronic) variant was found
in the ATOX1 gene without causing the functional changes
of the gene. Three allelic variants were identified in the
COMMD1 gene. No statistically significant differences
were found between allele and genotype frequencies and
the first clinical manifestations of WD. Different variants
of the CP gene contributed to a WD-like phenotype
in clinically confirmed WD patients with neurological
symptoms and without identified pathogenic variants in the
ATP7B gene. Allelic variants in the ATOX1 and COMMD1
genes do not modify the clinical manifestation of WD in
Latvian patients. (266 words)
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