| Title |
Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia
|
|---|---|
| Published in |
Human Genetics, April 2011
|
| DOI | 10.1007/s00439-011-0989-6 |
| Pubmed ID | |
| Authors |
Joseph F. Cubells, Xiangqing Sun, Wenbiao Li, Robert W. Bonsall, John A. McGrath, Dimitri Avramopoulos, Virginia K. Lasseter, Paula S. Wolyniec, Yi-Lang Tang, Kristina Mercer, Ann E. Pulver, Robert C. Elston |
| Abstract |
Dopamine β-hydroxylase (DβH) catalyzes the conversion of dopamine to norepinephrine. DβH enters the plasma after vesicular release from sympathetic neurons and the adrenal medulla. Plasma DβH activity (pDβH) varies widely among individuals, and genetic inheritance regulates that variation. Linkage studies suggested strong linkage of pDβH to ABO on 9q34, and positive evidence for linkage to the complement fixation locus on 19p13.2-13.3. Subsequent association studies strongly supported DBH, which maps adjacent to ABO, as the locus regulating a large proportion of the heritable variation in pDβH. Prior studies have suggested that variation in pDβH, or genetic variants at DβH, associate with differences in expression of psychotic symptoms in patients with schizophrenia and other idiopathic or drug-induced brain disorders, suggesting that DBH might be a genetic modifier of psychotic symptoms. As a first step toward investigating that hypothesis, we performed linkage analysis on pDβH in patients with schizophrenia and their relatives. The results strongly confirm linkage of markers at DBH to pDβH under several models (maximum multipoint LOD score, 6.33), but find no evidence to support linkage anywhere on chromosome 19. Accounting for the contributions to the linkage signal of three SNPs at DBH, rs1611115, rs1611122, and rs6271 reduced but did not eliminate the linkage peak, whereas accounting for all SNPs near DBH eliminated the signal entirely. Analysis of markers genome-wide uncovered positive evidence for linkage between markers at chromosome 20p12 (multi-point LOD = 3.1 at 27.2 cM). The present results provide the first direct evidence for linkage between DBH and pDβH, suggest that rs1611115, rs1611122, rs6271 and additional unidentified variants at or near DBH contribute to the genetic regulation of pDβH, and suggest that a locus near 20p12 also influences pDβH. |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 32 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 31% |
| Student > Ph. D. Student | 8 | 25% |
| Student > Postgraduate | 2 | 6% |
| Professor | 2 | 6% |
| Student > Bachelor | 2 | 6% |
| Other | 7 | 22% |
| Unknown | 1 | 3% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 19% |
| Biochemistry, Genetics and Molecular Biology | 4 | 13% |
| Medicine and Dentistry | 4 | 13% |
| Psychology | 4 | 13% |
| Chemistry | 3 | 9% |
| Other | 7 | 22% |
| Unknown | 4 | 13% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 August 2022.
All research outputs
#3,272,132
of 22,787,797 outputs
Outputs from Human Genetics
#294
of 2,953 outputs
Outputs of similar age
#15,377
of 109,257 outputs
Outputs of similar age from Human Genetics
#4
of 23 outputs
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