Table 2.
Genes evaluated in this study.
Gene symbol* | Official Gene Name | Location | References |
---|---|---|---|
HLA-A | major histocompatibility complex, class I, A | 6p21.3 - MHCI region | Purcell et al. (2009)- alleles associated with rs3130375, a SNP significant at 3.66 × 10−7 |
HLA-B | major histocompatibility complex, class I, B | Mexal et al. (2005) - HLA-A expression increased in post-mortem hippocampus of schizophrenic nonsmokers | |
HLA-C | major histocompatibility complex, class I, C | Shatz et al. (2002)- MHCI essential for axono-dendritic remodeling | |
HLA-G | major histocompatibility complex, class I, G | ||
| |||
B2M | beta-2 microglobulin (co-subunit of MHCI) | 15q21-q22.2 | Mexal et al. (2005)- expression increased in post-mortem hippocampus of schizophrenic nonsmokers |
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TAP1 | transporter 1, ATP-binding cassette, sub-family B (MHCI synthesis) | 6p21.3 - MHCII region | Fellerhoff et al. (2009) - A1/B1 genotype associated with schizophrenia with odds ratio 14.1 |
| |||
TAPBP | TAP binding protein; AKA tapasin, (MHCI chaperone protein) | 6p21.3 - extended MHCII region |
Purcell et al. (2009)- SNP within 20KB associated at 4.49 × 10−5 Fellerhoff et al. (2009)- 01/01 genotype associated with schizophrenia. |
| |||
HLA-DRA | major histocompatibility complex, class II, DR alpha | 6p21.3 - MHCII region |
Purcell et al. (2009) - DRB and DQA alleles associated with rs3130375, a SNP significant at 3.66 × 10−7; DRA within 20KB of a SNP associated at 8.34 × 10−6 Shi et al. (2009) HLA-DQA1- upstream and intronic SNPs significant at 6.88 × 10−8 and 8.87 × 10−8 respectively |
HLA-DRB5 | major histocompatibility complex, class II, DR beta 5 | ||
HLA-DQA1 | major histocompatibility complex, class II, DQ alpha 1 | ||
| |||
NOTCH4 | notch 4 | 6p21.3 - MHCII region |
Purcell et al. (2009), Stefansson et al. (2009) - genome wide association of a SNP 7KB from the gene Brennand et al. (2011)- significant decrease in expression in the NOTCH pathway in schizophrenia |
| |||
TNF | tumor necrosis factor alpha | 6p21.3 |
Albensi and Mattson (2000) - Evidence for the involvement of TNF and NF-kappaB in hippocampal synaptic plasticity. Stellwagen and Malenka (2006) - Synaptic scaling mediated by glial TNF-alpha |
| |||
BTN2A2 | butyrophilin, subfamily 2, member A2 | 6p22.1 |
Purcell et al. (2009) SNP within 20KB associated at 1.18 × 10−5 Smith et al. (2010) - Brain has the highest mRNA levels of BTN2A2 compared to all other organs |
Gene symbol = official gene symbol designated by the HUGO Gene Nomenclature Committee (HGNC). Official gene name = official HGNC full length name of the gene. References = previous studies that have demonstrated genetic association or differential expression in schizophrenia.
Human MHCI and MHCII genes were initally called human leukocyte antigens (HLA) prior to understanding the full scope of their function. This designation has been retained in the official gene symbols, but not in the HGNC full length names of the genes.