Study Report

Basic Info
| Reference |
Galimberti, D.,2012 PMID: 22505994
|
| Citation |
Galimberti, D., B. Dell'Osso, et al. (2012). "Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia." PLoS One 7(4): e32164.
|
| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
patients with schizophrenia (n = 271) or BPD (n = 237) as compared with 574 age-, gender- and ethnicity matched controls |
| SNP/Region/Marker Size |
5 SNPs |
| Predominant Ethnicity |
Caucasian |
| Population |
German |
| Gender |
Male:female:unknown:83:153:1 in BPD patients,146:120:5 in SZ patients and 230:341:3 in control group |
| Age Group |
Adults
:
Mean age(SEM)(year):27.4(0.39) for control subjects,27.13(0.59) for SZ patients and 30.14(0.76) for BPD patients
|

Detail Info
| Sample Diagnosis |
DSM |
| Sample Status |
Five hundreds and eight patients with psychiatric disorders were recruited at the Department of Psychiatry, Psychosomatics and Psychotherapy, University of Wurzburg, Germany. Two hundreds seventy one patients were diagnosed with schizophrenia, whereas 237 patients were diagnosed with BPD (type 1: n= 103,type 2: n = 78, not defined: n= 56).The control group was recruited at the Department of Psychiatry, Psychosomatics and Psychotherapy, University of Wurzburg, Germany. The age of controls did not significantly differ from that of patients' age at disease onset (P>0.05). The control sample was composed of blood donors, staff members, and volunteers all originating from the Lower Franconia region. The sample was not systematically screened for psychiatric disorders; however, all subjects were free of medication, and the study was explained to them, so that the likelihood of severe psychiatric disorders in the control sample was low. |
| Technique |
Genotyping |
| Statistical Method |
Chi square test |
| Result Summary |
A significantly decreased allelic frequency of the minor versus the wild-type allele was observed for rs2879096 (23.2 versus 34.2%, P<0.001, OR:0.63, 95%CI:0.49-0.80), rs4792938 (30.7 versus 39.7%, P = 0.005, OR: 0.70, 95%CI: 0.55-0.89) and rs5848 (30.3 versus 36.8, P = 0.007, OR: 0.71, 95%CI: 0.56-0.91). Mean+/-SEM progranulin plasma levels were significantly decreased in BPD patients, either Germans or Italians, as compared with controls (89.69+/-3.97 and 116.14+/-5.80 ng/ml, respectively, versus 180.81+/-18.39 ng/ml P<0.001) and were not correlated with age.In conclusion, GRN variability decreases the risk to develop BPD and schizophrenia, and progranulin plasma levels are significantly lower in BPD patients than in controls. Nevertheless, a larger replication analysis would be needed to confirm these preliminary results. |

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 5)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs2879096 |
GRN
|
C/T |
|
Association analysis: chi square test, genotype P-value < 0.001, OR: 0.20, 95%CI: 0.09-0.14; allele P-value = 0.001, OR: 0.60, 95%CI: 0.44-0.81.
|
Significant association was observed in BD.
Significant association was observed in BD.
|
Positive
|
| rs3785817 |
GRN
|
G/A |
|
Association analysis: chi square test, genotype P-value > 0.05; allele P-value > 0.05
|
No significant association was observed in BD.
No significant association was observed in BD.
|
Negative
|
| rs4792938 |
GRN
|
G/C |
|
Association analysis: chi square test, genotype P-value = 0.0003, OR: 0.37, 95%CI: 0.22-0.63; allele P-value = 0.01, OR: 0.66, 95%CI: 0.49-0.90.
|
Significant association was observed in BD.
Significant association was observed in BD.
|
Positive
|
| rs5848 |
GRN
FAM171A2
|
C/T |
|
Association analysis: chi square test, genotype P-value > 0.05; allele P-value > 0.05
|
No significant association was observed in BD.
No significant association was observed in BD.
|
Negative
|
| rs9897526 |
GRN
FAM171A2
|
G/A |
|
Association analysis: chi square test, genotype P-value > 0.05; allele P-value > 0.05
|
No significant association was observed in BD.
No significant association was observed in BD.
|
Negative
|

Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| GRN |
In conclusion, we demonstrated that GRN variability contributes to schizophrenia and BPD development......
In conclusion, we demonstrated that GRN variability contributes to schizophrenia and BPD development.
More...
|
Positive
|

Genetic factors reported by this study for SZ and/or MDD

SNPs reported by this study for SZ/MDD
| Disease |
SNP |
Related Gene(s) |
Statistical Values |
Description |
Result Category |
| SZ |
rs2879096 |
GRN
|
Association analysis:chi square test, genotype P-value = 0.0002, OR: 0.35, 95%CI: 0.20-0.61;allele P-value > 0.05 |
Significant association was observed in SZ. |
Positive |
| SZ |
rs5848 |
GRN
FAM171A2
|
Association analysis:chi square test, genotype P-value = 0.01, OR: 0.51, 95%CI: 0.30-0.85;allele P-value < 0.0001, OR: 0.53, 95%CI: 0.39-0.72 |
Significant association was observed in SZ. |
Positive |
| SZ |
rs9897526 |
GRN
FAM171A2
|
Association analysis:chi square test, genotype P-value > 0.05;allele P-value > 0.05 |
No significant association was observed in SZ. |
Negative |
| SZ |
rs3785817 |
GRN
|
Association analysis:chi square test, genotype P-value > 0.05;allele P-value > 0.05 |
No significant association was observed in SZ. |
Negative |
| SZ |
rs4792938 |
GRN
|
Association analysis:chi square test, genotype P-value = 0.002, OR: 0.48, 95%CI: 0.31-0.77;allele P-value > 0.05 |
Significant association was observed in SZ. |
Positive |

Genes reported by this study for SZ/MDD
| Disease |
Gene |
Description |
Result Category |
| SZ |
GRN |
In conclusion, we demonstrated that GRN variability contributes to schizophrenia and BPD development. |
Positive |