A total of 2,274 cases of schizophrenia were studied, resulting in an association between rs7341475, exclusively in women. Based on all populations the estimated relative risk for women carrying the common (G;G) genotype is 1.58 (p = 8.8 x 10(-7).[PMID 18282107]
This finding was replicated in a large independent Ashkenazi Jewish collection (721 cases, 259 female; 1455 controls, 834 female), with confirmation that it applies to both schizophrenia and schizoaffective disorder.[PMID 20431428]
[PMID 21603580] The genetic variation of RELN expression in schizophrenia and bipolar disorder
[PMID 22006801] [Association of RELN SNP rs7341475 with schizophrenia in the Chinese population]
[PMID 19002143] Sex-specific genetic architecture of human disease.
[PMID 19197363] A genome-wide investigation of SNPs and CNVs in schizophrenia.
[PMID 19911060] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
[PMID 20434133] No effect of a common allelic variant in the reelin gene on intermediate phenotype measures of brain structure, brain function, and gene expression.
[PMID 20468075] Further investigation of the association between rs7341475 and rs17746501 and schizophrenia.
[PMID 20485477] New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia?
[PMID 21195391] Association of reelin (RELN) single nucleotide polymorphism rs7341475 with prepulse inhibition in the Jewish Israeli population.
[PMID 21745129] Analysis of common genetic variants identifies RELN as a risk gene for schizophrenia in Chinese population.
|qualified_impact||Insufficiently evaluated pathogenic|
|summary||susceptibility to bipolar and schizophrenia possibly specific to Ashkenazi Jews.|