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• W2023158153 abstract "<h3>Background</h3> Genome-wide association studies have successfully identified several common variants showing robust association with schizophrenia. However, individually, these variants only produce a weak effect. To identify genetic variants with larger effect sizes, increasing attention is now being paid to uncommon and rare variants. <h3>Methods</h3> From the 1000 Genomes Project data, we selected 47 candidate single nucleotide variants (SNVs), which were: 1) uncommon (minor allele frequency<5%); 2) Asian-specific; 3) missense, nonsense, or splice site variants predicted to be damaging; and 4) located in candidate genes for schizophrenia and bipolar disorder. We examined their association with schizophrenia, using a Japanese case-control cohort (2012 cases and 2781 control subjects). Additional meta-analysis was performed using genotyping data from independent Han-Chinese case-control (333 cases and 369 control subjects) and family samples (9 trios and 284 quads). <h3>Results</h3> We identified disease association of a missense variant in <i>GRIN3A</i> (p.R480G, rs149729514, <i>p =</i> .00042, odds ratio [OR] = 1.58), encoding a subunit of the <i>N</i>-methyl-D-aspartate type glutamate receptor, with study-wide significance (threshold <i>p =</i> .0012). This association was supported by meta-analysis (combined <i>p =</i> 3.3×10⁻⁵, OR=1.61). Nominally significant association was observed in missense variants from <i>FAAH</i>, <i>DNMT1</i>, <i>MYO18B,</i> and <i>CFB,</i> with ORs of risk alleles ranging from 1.41 to 2.35. <h3>Conclusions</h3> The identified SNVs, particularly the <i>GRIN3A</i> R480G variant, are good candidates for further replication studies and functional evaluation. The results of this study indicate that association analyses focusing on uncommon and rare SNVs are a promising way to discover risk variants with larger effects." @default.
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• W2023158153 date "2013-03-01" @default.
• W2023158153 modified "2023-10-12" @default.
• W2023158153 title "A Population-Specific Uncommon Variant in GRIN3A Associated with Schizophrenia" @default.
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• W2023158153 doi "https://doi.org/10.1016/j.biopsych.2012.10.024" @default.
• W2023158153 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23237318" @default.
• W2023158153 hasPublicationYear "2013" @default.
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