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. 2019 Mar 25;9:5055. doi: 10.1038/s41598-019-41504-7

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Renal DA excretion: Effects of heredity and the DDC gene. (A) Heritability (h²) of catecholamine secretion and urinary excretion. Results for plasma catecholamine concentrations (pg/ml) and urine catecholamine excretion (ng/gm creatinine) emerge from variance components analyses by SOLAR in MZ versus DZ twin pairs. h² is expressed as % of trait variance attributable to gene action, ±SEM. V_G: genetic variance; V_P: total phenotypic variance. (B) Human DOPA decarboxylase (DDC): Exon/intron and inter-species sequence conservation. Polymorphism discovery across the human DDC locus: re-sequencing strategy. There are 15 exons at human DDC. Eighteen polymerase chain reaction amplicons spanned the promoter and coding regions. Amplicons with double arrows were read in both directions. The SNP Arg462Gln (rs11575542) characterized in this paper is located in exon-14. (C) Natural genetic variation at DOPA decarboxylase (DDC, AADC) on chromosome 7p12: Prediction of renal DA production in twin pairs. Local region of the Manhattan plot displayed by SNAP (SNP Annotation and Proxy Search) plot http://www.broadinstitute.org/mpg/snap/ldplot.php. The peak association (p = 1.35E-06; see diamond) was at DDC intron-5 tagging SNP rs11575340. The DA secretion trait-associated coding variant (characterized in this paper) is at DDC Arg462Gln (exon-14, rs11575542). Marker-on-marker LD is shown as R² (with respect to rs11575340), on a red color scale.