Correlation of Plasma Dopamine β-hydroxylase Activity with Polymorphisms in DBH Gene: A Study on Eastern Indian Population
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Plasma dopamine β-hydroxylase activity (plDβH) is tightly regulated by the DBH gene and several genetic polymorphisms have been found to independently exert their influence. In the present investigation, association of four DBH polymorphisms, DBH-STR, rs1611115, rs1108580, and rs2519152 with plDβH was examined in blood samples from 100 unrelated individuals belonging to the state of West Bengal, Eastern India. Genotypes obtained after PCR amplification and restriction digestion were used for statistical analyses. plDβH was measured using a photometric assay and its correlation with the genetic polymorphisms was analyzed using analysis of variance and linear regression. Moderate linkage disequilibrium (LD) was observed between DBH-STR and rs1611115, while rs1108580 and rs2519152 were in strong LD. ‘T’ allele of rs1611115 showed strong negative correlation with plDβH, whereas DBH-STR, rs1108580 and rs2519152 had no major effect. Four haplotypes showed significant influence on plDβH. This is the first report on the effect of genetic polymorphisms on plDβH from the Indian sub-continent. rs1611115 was the only polymorphism that showed substantial control over plDβH. Other polymorphisms which did not show individual effects could possibly be part of larger haplotype blocks that carry the functional polymorphisms controlling plDβH.
KeywordsDβH activity Genetic polymorphism Haplotype Linkage disequilibrium
Authors are thankful to all the individuals who volunteered for this study. Financial assistance, in the form of senior research fellowship to N. Bhaduri, from the Council of Scientific and Industrial Research, Government of India is gratefully acknowledged. Authors are also indebted to Dr. K.P. Mohanakumar, Deputy Director, Head, Division of Cell Biology and Physiology, Indian Institute of Chemical Biology, India for his kind help.
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