Located within intron 8 of the neurotransmitter type A gamma-aminobutyric acid (GABA) A receptor, beta 2 gene, more often as well as officially called GABRB2.
This SNP, or more precisely certain haplotypes associated with it, has been linked to schizophrenia, and in particular systematic schizophrenia, in studies on Japanese, Chinese, and German populations [PMID 14699426, PMID 16950232].
A fascinating and complex argument has been made suggesting that changes in our environment have led to positive selection for the rs1816071(G) containing haplotypes also now seen at increased frequency in schizophrenics [PMID 17520021].
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[PMID 20404824] Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor beta(2) subunit
[PMID 16023997] Positive association of the human GABA-A-receptor beta 2 subunit gene haplotype with schizophrenia in the Chinese Han population.
[PMID 16472798] Analysis of GABRB2 association with schizophrenia in German population with DNA sequencing and one-label extension method for SNP genotyping.
[PMID 18715757] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
[PMID 19763268] Alternative-splicing in the exon-10 region of GABA(A) receptor beta(2) subunit gene: relationships between novel isoforms and psychotic disorders.
[PMID 19909288] GABRB2 in schizophrenia and bipolar disorder: disease association, gene expression and clinical correlations.
[PMID 20221451] A recombination hotspot in a schizophrenia-associated region of GABRB2.