Study Report

Basic Info
| Reference |
Galimberti, D., 2014 PMID: 24499389
|
| Citation |
Galimberti, D., et al. (2014). "Progranulin gene variability influences the risk for bipolar I disorder, but not bipolar II disorder." Bipolar Disord.
|
| Disease Type |
Bipolar Disorder |
| Study Design |
case-control |
| Study Type |
Candidate-gene association study |
| Sample Size |
79 BD-I and 55 BD-II patients, and 232 controls |
| SNP/Region/Marker Size |
3 SNPs |
| Predominant Ethnicity |
Caucasian |
| Population |
Italian |
| Gender |
51 male and 83 female patients, 87 male and 145 female controls; 36 male and 43 female patients with BD-I, 15 male and 40 female patients with BD-II. |
| Age Group |
adults
:
mean age=51.0, SD=12.8 years of patients, range: 20~74 years; mean age=54.0, SD=15.3 years of controls, range: 24�74 years; mean age=49.0, SD=13.1 years of BD-I, range: 20�74 years; mean age=52.0, SD=12.3 years of BD-II, range: 33�74 years.
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Detail Info
| Sample Diagnosis |
DSM-IV-TR |
| Sample Status |
One hundred and thirty-four patients with BD diagnosed according to DSM-IV-TR criteria and 232 healthy age-matched controls were included in the study. Seventy-nine patients were diagnosed with BD-I and 55 with BD-II. |
| Technique |
genotyped by allelic discrimination |
| Statistical Method |
Allelic and genotypic frequencies were obtained by direct counting. A chi-square test was used to test for Hardy�Weinberg equilibrium (HWE) and for differences in SNP distribution between cases and controls, and BonferroniÕs correction was applied. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Progranulin plasma levels were analysed using t-tests. |
| Result Summary |
The presence of the polymorphic variant of the rs5848 single nucleotide polymorphism is protective for the development of bipolar I disorder (BD-I) (odds ratio = 0.55, 95% confidence interval: 0.33~0.93; p = 0.024) but not bipolar II disorder (BD-II) (p > 0.05). |

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 3)
| SNP |
Related Gene(s) |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| rs2879096 |
GRN
|
C/T |
|
P > 0.05
|
In contrast to data obtained in that previous study, as rega......
In contrast to data obtained in that previous study, as regards rs2879096,we did not observe an association in our population.
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|
Negative
|
| rs4792938 |
GRN
|
G/C |
|
P > 0.05
|
In contrast to data obtained in that previous study, as rega......
In contrast to data obtained in that previous study, as regards rs4792938, we did not observe an association in our population.
More...
|
Negative
|
| rs5848 |
GRN
FAM171A2
|
C/T |
T |
Chi-square test, Bonferroni’s correction: P-value = 0.024, OR = 0.55, 95%CI: 0.33–0.93 for BD-I; P-value > 0.05 for BD-II
|
When patients were stratified into BD-I and BD-II groups, a ......
When patients were stratified into BD-I and BD-II groups, a significantly decreased allelic frequency of the rs5848T allele was observed in the former (21.5% versus 32.5% in controls; OR = 0.55, CI: 0.33–0.93; p = 0.024) but not in the latter group (29.1%; p > 0.05 versus controls.
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Positive
|

Other variants reported by this study for BD (count: 1)
| Variant Name |
Related Gene |
Type |
Allele Change |
Risk Allele |
Statistical Values |
Author Comments |
Result Category |
| GRN C/T |
GRN |
point mutation |
C/T |
TT |
OR = 0.55, 95% CI: 0.33–0.93; P-value = 0.024 in BD-I.
|
GRN variability decreases the risk of developing BD and schi......
GRN variability decreases the risk of developing BD and schizophrenia
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Positive
|

Genes reported by this study for BD (count: 1)
| Gene |
Statistical Values/Author Comments |
Result Category |
| GRN |
One SNP in this gene is significant in BD-I, but not BD-II. Regarding the influence of GRN variabili......
One SNP in this gene is significant in BD-I, but not BD-II. Regarding the influence of GRN variability on BD susceptibility, the predisposing genetic background differs between BD-I and BD-II, possibly implying that pathogenic mechanisms differ between the two subtypes of BD.
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Positive
|

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