Premium
Dopamine β hydroxylase ( DBH ) polymorphisms do not contribute towards the clinical course of Wilson's disease in Indian patients
Author(s) -
Roy Shubhrajit,
Ghosh Sampurna,
Bhattacharya Sreyashi,
Saha Arpan,
Das Shyamal Kumar,
Gangopadhyay Prasanta Kumar,
Bavdekar Ashish,
Ray Kunal,
Sengupta Mainak,
Ray Jharna
Publication year - 2019
Publication title -
the journal of gene medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 91
eISSN - 1521-2254
pISSN - 1099-498X
DOI - 10.1002/jgm.3109
Subject(s) - genotype , missense mutation , allele , dopamine , medicine , disease , genetics , tyrosine hydroxylase , gastroenterology , endocrinology , biology , oncology , mutation , gene
Abstract Background Wilson's disease (WD) is a rare copper metabolism disorder with hepatic and neurological symptoms. Dopamine β hydroxylase ( DBH ) encodes a copper‐dependent mono‐oxygenase that converts dopamine to norepinephrine, thereby regulating the endogenous dopamine content in the neurons. Polymorphisms of DBH have been reported to be associated with several neurological diseases, such as Parkinson's disease, Alzheimer's disease, schizophrenia and attention‐deficit hyperactivity disorder, which have overlapping neurological symptoms with WD. The present study aimed to assess the role of DBH polymorphisms on the clinical course of WD. Methods In total, 141 WD patients from India were included in the present study. Three polymorphisms of DBH (rs1611115 in the promoter, rs1108580 in exon 2 and rs129882 in 3'‐UTR) were screened for their association with the clinical attributes (hepatic and neurological features) and age of onset of WD using a polymerase chain reaction‐restriction fragment length polymorphsm method and sequencing approach. The distribution of genotype or allele frequencies was tested using 2 × 2 contingency chi‐squared and logistic regression analysis (additive, dominant and recessive model). Results The genotypic and allelic frequencies of these single nucleotide polymophisms did not vary significantly along with the clinical symptoms (hepatic and neurological) or the age of onset of WD. No significant association was observed when we analyzed our samples with respect to harboring different kinds of ATP7B mutations (nonsense/in‐del and missense). Conclusions The data obtained in the present study suggest that the selected DBH variants are unlikely to have any significant contribution towards modifying the clinical symptoms of Indian WD patients.