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A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus

✍ Scribed by Cyrus P. Zabetian; George M. Anderson; Sarah G. Buxbaum; Robert C. Elston; Hiroshi Ichinose; Toshiharu Nagatsu; Kwang-Soo Kim; Chun-Hyung Kim; Robert T. Malison; Joel Gelernter; Joseph F. Cubells

Book ID: 117853532
Publisher: American Society of Human Genetics
Year: 2001
Tongue: English
Weight: 588 KB
Volume: 68
Category: Article
ISSN: 0002-9297
DOI: 10.1086/318198

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## Abstract The __DBH__ locus controls plasma dopamine β‐hydroxylase activity (pDβH). A 5′‐upstream single nucleotide polymorphism (SNP) at __DBH__ (−1021C → T) explains ∼45% of the variance in pDβH, and a non‐synonymous SNP in exon 11 (+ 1603C → T) an additional 2%. However, that regression result