ArticlePloS one2013
Replication of association between schizophrenia and chromosome 6p21-6p22.1 polymorphisms in Chinese Han population.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Genetic overlap between treatment-resistant schizophrenia and smoking initiation.The international journal of neuropsychopharmacology · 2026Article
- A genomic structural equation modelling study elucidates shared genetic architecture of polygenic traits associated with post-intensive care syndrome.Scientific reports · 2026Article
- Massively parallel characterization of regulatory elements in the developing human cortex.Science (New York, N.Y.) · 2024Article
- Schizophrenia in the genetic era: a review from development history, clinical features and genomic research approaches to insights of susceptibility genes.Metabolic brain disease · 2024Review
- Shared genetic links between hypothyroidism and psychiatric disorders: evidence from a comprehensive genetic analysis.Frontiers in endocrinology · 2024Article
- Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex.bioRxiv : the preprint server for biology · 2023Article
- Methylome-wide Association Study of Patients with Recent-onset Psychosis.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2022Article
- Differential genetic associations and expression of PAPST1/SLC35B2 in bipolar disorder and schizophrenia.Journal of neural transmission (Vienna, Austria : 1996) · 2022Article
- CFrontiers in neurology · 2020Review
- Genetic Variation in Human Gene Regulatory Factors Uncovers Regulatory Roles in Local Adaptation and Disease.Genome biology and evolution · 2019Article
- Increased circulating regulatory T cells in medicated people with schizophrenia.Psychiatry research · 2018Article
- Progress in genome-wide association studies of schizophrenia in Han Chinese populations.NPJ schizophrenia · 2017Review
- Influence ofNeuropsychiatric disease and treatment · 2017Article
- Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain.Molecular psychiatry · 2016Article
- Quantitative Trait Locus and Brain Expression of HLA-DPA1 Offers Evidence of Shared Immune Alterations in Psychiatric Disorders.Microarrays (Basel, Switzerland) · 2016Article
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Authors and funding
8 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome 6p21-p22.1, spanning the extended major histocompatibility complex (MHC) region, is a highly polymorphic, gene-dense region. It has been identified as a susceptibility locus of schizophrenia in Europeans, Japanese, and Chinese. In our previous two-stage genome-wide association study (GWAS), polymorphisms of zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), nuclear factor-κB-activating protein-like (NKAPL), and piggyBac transposable element derived 1 (PGBD1), localized to chromosome 6p21-p22.1, were strongly associated with schizophrenia. To further investigate the association between polymorphisms at this locus and schizophrenia in the Chinese Han population, we selected eight other single-nucleotide polymorphisms (SNPs) distributed in or near these genes for a case-control association study in an independent sample of 902 cases and 1,091 healthy controls in an attempt to replicate the GWAS results. Four of these eight SNPs (rs12214383, rs1150724, rs3800324, and rs1997660) displayed a nominal difference in allele frequencies between the case and control groups. The association between two of these SNPs and schizophrenia were significant even after Bonferroni correction (rs12000: allele A>G, P = 2.50E-04, odds ratio [OR] = 1.27, 95% confidence interval [CI] = 1.12-1.45; rs1150722: allele C>T, P = 4.28E-05, OR = 0.55, 95% CI = 0.41-0.73). Haplotype ATTGACGC, comprising these eight SNPs (rs2235359, rs2185955, rs12214383, rs12000, rs1150724, rs1150722, rs3800324, and rs1997660), was significantly associated with schizophrenia (P = 6.60E-05). We also performed a combined study of this replication sample and the first-stage GWAS sample. The combined study revealed that rs12000 and rs1150722 were still strongly associated with schizophrenia (rs12000: allele G>A, P(combined) = 0.0019, OR = 0.81; rs1150722: allele G>A, P(combined) = 3.00E-04, OR = 0.61). These results support our findings that locus 6p21-p22.1 is significantly associated with schizophrenia in the Chinese Han population and encourage further studies of the functions of these genetic factors.
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