Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2
Abstract
To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P(combined) = 4.76 × 10(-11), odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P(combined) = 6.91 × 10(-12), OR = 0.78; rs2142731 in an intron of PGBD1, P(combined) = 5.14 × 10(-10), OR = 0.79) and 11p11.2 (rs11038167 near the 5' UTR of TSPAN18, P(combined) = 1.09 × 10(-11), OR = 1.29; rs11038172, P(combined) = 7.21 × 10(-10), OR = 1.25; rs835784, P(combined) = 2.73 × 10(-11), OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia.
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The proportion of variance explained by the risk profile score increased with relaxation of the significance thresholds.
“The proportion of variance explained by the risk profile score increased with relaxation of the significance thresholds.”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
Estimates from two different methods indicated that the risk profile component for SCZ contributes between a quarter and a third of the overall variance in liability to SCZ, a substantial fraction of the 65-81% heritability of SCZ.
“Finally, estimates from two different methods indicated that the risk profile component for SCZ contributes between a quarter and a third of the overall variance in liability to SCZ, 69,130 a substantial fraction of the 65–81% heritability of SCZ. 179,180”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
The same set of markers also discriminated BIP cases from controls indicating substantial genetic contributions between SCZ and BIP.
“Remarkably, the same set of markers also discriminated BIP cases from controls indicating substantial genetic contributions between SCZ and BIP.”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
In three independent GWAS, SCZ cases had significantly higher risk profile scores than controls.
“In three independent GWAS, SCZ cases had significantly higher risk profile scores than controls.”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
There are now replicated data that vulnerability to SCZ is influenced by common genetic variation in hundreds of different loci, and this vulnerability partially overlaps that for BIP.
“There are now replicated data that vulnerability to SCZ is influenced by common genetic variation in hundreds of different loci, and this vulnerability partially overlaps that for BIP. 69”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
Common variant SNP effects have been estimated to explain large proportions of the phenotypic heritability for a wide range of diseases: BIP and SCZ; T1DM, T2DM, Crohn's disease, rheumatoid arthritis, celiac disease, and coronary artery disease; and continuous traits (height, intelligence, and body mass).
“Common variant SNP effects have been estimated to explain large proportions of the phenotypic heritability for a wide range of diseases: BIP and SCZ; 69,130 T1DM, T2DM, Crohn’s disease, rheumatoid arthritis, celiac disease, and coronary artery disease; 70,77 and continuous traits (height, intelligence, and body mass). 70,131,132”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [69]
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References 31 · Cited by 289
- Authors
- Yue, W.-H., Wang, H.-F., Sun, L.-D., Tang, F.-L., Liu, Z.-H., Zhang, H.-X., Li, W.-Q., Zhang, Y.-L., Zhang, Y., Ma, C.-C., Du, B., Wang, L.-F., Ren, Y.-Q., Yang, Y.-F., Hu, X.-F., Wang, Y., Deng, W., Tan, L.-W., Tan, Y.-L., Chen, Q., Xu, G.-M., Yang, G.-G., Zuo, X.-B., Yan, H., Ruan, Y.-Y., Lu, T.-L., Han, X., Ma, X.-H., Wang, Y., Cai, L.-W., Jin, C., Zhang, H.-Y., Yan, J., Mi, W.-F., Yin, X.-Y., Ma, W.-B., Liu, Q., Kang, L., Sun, W., Pan, C.-Y., Shuang, M., Yang, F.-D., Wang, C.-Y., Yang, J.-L., Li, K.-Q., Ma, X., Li, L.-J., Yu, X., Li, Q.-Z., Huang, X., Lv, L.-X., Li, T., Zhao, G.-P., Huang, W., Zhang, X.-J., & Zhang, D.
- Affiliations
- Anhui Medical University (CN)
- Peking University (CN)
- Chinese Academy of Sciences (CN)
- Henan Psychiatric Hospital (CN)
- Jinzhou Kangning Hospital (CN)
- Hebei Mental Health Center (CN)
- Sichuan University (CN)
- Second Xiangya Hospital of Central South University (CN)
- Beijing HuiLongGuan Hospital (CN)
- Capital Medical University (CN)
- Tianjin Anding Hospital (CN)
- Shanghai Jiao Tong University (CN)
- Corresponding author
- Huang, Wei
- Zhang, Dai
- ORCID
- Venue
- Nature Genetics
- Published
- 2011-10-30
- Volume
- 43
- Issue
- 12
- Pages
- 1228-1231
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2096301549
- Cited by
- 289
- References
- 31
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 4 · 2023: 13 · 2022: 15 · 2021: 16 · 2020: 18 · 2019: 14 · 2018: 16 · 2017: 22 · 2016: 36 · 2015: 28 · 2014: 22 · 2013: 43 · 2012: 32
- FWCI
- 21.44
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- schizophrenia, genetic susceptibility loci, Han Chinese, major histocompatibility complex, schizophrenia pathogenesis
- MeSH terms
- Adult, Animals, Brain, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 6, DNA-Binding Proteins, Female, Gene Frequency, Humans, Male, Mice, Inbred ICR, Nerve Tissue Proteins, Nuclear Proteins, Schizophrenia, Transcription, Genetic, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Principal Component Analysis, Quantitative Trait Loci, Asian People, Mice, Genome-Wide Association Study, Genetic Loci, Co-Repressor Proteins, Tetraspanins
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