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• W2327265152 abstract "Objective Dopamine-β-hydroxylase (DBH), an enzyme that converts dopamine into norepinephrine, is a drug target in cardiovascular and neuropsychiatric disorders. We aimed to identify functional variants in this gene by deep sequencing and enzyme phenotyping in an Indian cohort. Materials and methods Targeted resequencing of 12 exons and 10 kb upstream sequences of DBH in healthy volunteers (n=50) was performed using the Ion Personal Genome Machine System. Enzyme quantity and activity in their sera samples were determined by ELISA and ultra performance liquid chromatography, respectively. The association of markers with phenotypes was determined using Matrix eQTL. Global P-values for haplotypes generated using UNPHASED 3.1.5 were graphed using GrASP v.082 beta. Results Of the 49 variants identified, nine were novel (minor allele frequency≥0.01). Though individual markers associated with enzyme quantity did not withstand multiple corrections, a novel distal promoter block driven by rs113249250 (global P=1.5×10−4) was associated. Of the nine single nucleotide polymorphisms (SNPs) associated with enzyme activity, rs3025369, rs1076151 and rs1611115, all from the upstream region, withstood false discovery rate correction (false discovery rate=0.03, 0.03 and 2.9×10−5, respectively). Conditioning for rs1611115 identified rs1989787 also to affect activity. Importantly, we report an association of a novel haplotype block distal to rs1076151 driven by rs3025369 (global P=8.9×10−5) with enzyme activity. This regulatory SNP explained 4.9% of the total 46.1% of variance in DBH activity caused by associated SNPs. Conclusion This first study combining deep sequencing and enzyme phenotyping identified yet another regulatory SNP suggesting that regulatory variants may be central in the physiological or metabolic role of this gene of therapeutic and pharmacological relevance." @default.
• W2327265152 created "2016-06-24" @default.
• W2327265152 creator A5011453392 @default.
• W2327265152 creator A5023716414 @default.
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• W2327265152 date "2016-07-01" @default.
• W2327265152 modified "2023-09-27" @default.
• W2327265152 title "Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene" @default.
• W2327265152 cites W1553766190 @default.
• W2327265152 cites W1564387111 @default.
• W2327265152 cites W1827713853 @default.
• W2327265152 cites W194350719 @default.
• W2327265152 cites W1967589215 @default.
• W2327265152 cites W1970293967 @default.
• W2327265152 cites W1971280282 @default.
• W2327265152 cites W1972424717 @default.
• W2327265152 cites W1974105681 @default.
• W2327265152 cites W1974135788 @default.
• W2327265152 cites W1976174683 @default.
• W2327265152 cites W1977432663 @default.
• W2327265152 cites W1985849948 @default.
• W2327265152 cites W1996236487 @default.
• W2327265152 cites W1996779573 @default.
• W2327265152 cites W1996806641 @default.
• W2327265152 cites W1997293297 @default.
• W2327265152 cites W1999847083 @default.
• W2327265152 cites W2001739908 @default.
• W2327265152 cites W2005717652 @default.
• W2327265152 cites W2020677561 @default.
• W2327265152 cites W2027773728 @default.
• W2327265152 cites W2029220352 @default.
• W2327265152 cites W2033405156 @default.
• W2327265152 cites W2033779517 @default.
• W2327265152 cites W2034349712 @default.
• W2327265152 cites W2034705636 @default.
• W2327265152 cites W2035593176 @default.
• W2327265152 cites W2037147947 @default.
• W2327265152 cites W2041656884 @default.
• W2327265152 cites W2041833210 @default.
• W2327265152 cites W2048091395 @default.
• W2327265152 cites W2049880826 @default.
• W2327265152 cites W2050266641 @default.
• W2327265152 cites W2062829448 @default.
• W2327265152 cites W2063890723 @default.
• W2327265152 cites W2069548482 @default.
• W2327265152 cites W2072286813 @default.
• W2327265152 cites W2074089098 @default.
• W2327265152 cites W2077801070 @default.
• W2327265152 cites W2078256451 @default.
• W2327265152 cites W2080227722 @default.
• W2327265152 cites W2082566508 @default.
• W2327265152 cites W2088140119 @default.
• W2327265152 cites W2092814270 @default.
• W2327265152 cites W2099603410 @default.
• W2327265152 cites W2100697281 @default.
• W2327265152 cites W2103590825 @default.
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• W2327265152 cites W2127955894 @default.
• W2327265152 cites W2136091734 @default.
• W2327265152 cites W2138341861 @default.
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• W2327265152 doi "https://doi.org/10.1097/fpc.0000000000000214" @default.
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