Study Report

Basic Info

Reference	Flomen, R. H., 2006 PMID: 16823804
Citation	Flomen, R. H., D. A. Collier, et al. (2006). "Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder." Am J Med Genet B Neuropsychiatr Genet 141B(6): 571-575.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	453 probands and 197 controls
SNP/Region/Marker Size	2 variants
Predominant Ethnicity	Caucasian
Population	Scottish
Gender	57% male and 43% female controls

Detail Info

Sample Diagnosis	DSM-IIIR and DSM-IV
Sample Status	Subjects were recruited through Scottish psychiatric hospitals and met DSM-IIIR criteria for schizophrenia or schizoaffective disorder and DSM-IV for bipolar I disorder. The psychosis sample was clinically classified as follows: 208 schizophrenia, 217 bipolar disorder, and 28 other psychoses (including 11 with schizoaffective disorder).
Technique	genotyping for the 2bp deletion polymorphism was by limited cycle fluorescent PCR; copy number of CHRFAM7A was determined with a Taqman assay
Statistical Method	chi-square test
Result Summary	No significant association was seen for schizophrenia and bipolar disorder by genotype or allele overall for either polymorphism, but a mildly significant association by genotype (P=0.04) was observed for absence of CHRFAM7A when the sample was analyzed as a single psychosis phenotype.

Genetic factors reported by this study for BD

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
CHRFAM7A 2bp deletion	CHRFAM7A	insertion/deletion			X²=2.52, 2 df, P-value = 0.3 for bipolar versus controls, X²=1.12, 2 df, P-value = 0.6 for psychosis versus controls, 2bp deletion comparisons (33 vs.13/23 vs.11/12/22)	We found no evidence for association of the 2bp deletion alo...... We found no evidence for association of the 2bp deletion alone with any of the three phenotypes. More...	Negative

Genes reported by this study for BD (count: 1)

Gene	Statistical Values/Author Comments	Result Category
CHRFAM7A	Overall genotype comparisons: bipolar versus controls: X<sup>2</sup>=6.96, 5 df, P-value = 0.2, psychosis versus controls: X<sup>2</sup>=7.26, 5 df, P-value = 0.2; CHRFAM7A wt comparisons (22 vs. 12/23 vs. 11/13/33): bipolar versus controls: X<sup>2</sup>=0.34, 2 df, P-value = 0.8, psychosis versus controls: X<sup>2</sup>=1.84, 2 df, P-value = 0.4. Comparison of genotype frequencies between schizophrenia or bipolar samples and controls show no sig...... Comparison of genotype frequencies between schizophrenia or bipolar samples and controls show no significant difference, either analyzed separately or in the combined psychosis phenotype; no evidence for association of wild-type CHRFAM7A with schizophrenia, bipolar disorder or combined psychosis. More...	Negative

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

Other variants reported by this study for SZ/MDD

Disease	Variant Name	Related Gene	Type	Statistical Values	Description	Result Category
SZ	CHRFAM7A 2bp deletion	CHRFAM7A	insertion/deletion	P-value = 0.9, X²=0.19, 2 df for schizophrenia versus controls, 2bp deletion comparisons (33 vs. 13/23 vs. 11/12/22)	We found no evidence for association of the 2bp deletion alone with any of the three phenotypes	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	CHRFAM7A	Overall genotype comparisons: schizophrenia versus control: X<sup>2</sup>=8.00, 5 df, P-value = 0.2; CHRFAM7A wt comparisons (22 vs.12/23 vs.11/13/33): schizophrenia versus controls: X<sup>2</sup>=4.40, 2 df, P-value = 0.1. Comparison of genotype frequencies between schizophrenia or bipolar samples and controls show no significant difference, either analyzed separately or in the combined psychosis phenotype; no evidence for association of wild-type CHRFAM7A with schizophrenia, bipolar disorder or combined psychosis.	Negative