Dataset Information

Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population.

ABSTRACT: BACKGROUND:Autism is a complex neurodevelopmental disorder with high heritability. Zinc finger protein 804A (ZNF804A) was suggested to play important roles in neurodevelopment. Previous studies indicated that single-nucleotide polymorphism (SNP) rs1344706 in ZNF804A was strongly associated with schizophrenia and might influence social interaction. Only one study explored the significance of ZNF804A polymorphisms in autism, which discovered that rs7603001 was nominally associated with autism. Moreover, no previous study investigated the association between ZNF804A and autism in a Han Chinese population. Here, we investigated whether these two SNPs (rs1344706 and rs7603001) in ZNF804A contribute to the risk of autism in a Han Chinese population. METHODS:We performed a family-based association study in 640 Han Chinese autism trios. Sanger sequencing was used for sample genotyping. Then, single marker association analyses were conducted using the family-based association test (FBAT) program. RESULTS:No significant association was found between the two SNPs (rs1344706 and rs7603001) in ZNF804A and autism (P?>?0.05). CONCLUSIONS:Our findings suggested that rs1344706 and rs7603001 in ZNF804A might not be associated with autism in a Han Chinese population.

SUBMITTER: Wang Z

PROVIDER: S-EPMC6533675 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population.

Wang Ziqi Z Zhang Tian T Liu Jing J Wang Han H Lu Tianlan T Jia Meixiang M Zhang Dai D Wang Lifang L Li Jun J

BMC psychiatry 20190523 1

<h4>Background</h4>Autism is a complex neurodevelopmental disorder with high heritability. Zinc finger protein 804A (ZNF804A) was suggested to play important roles in neurodevelopment. Previous studies indicated that single-nucleotide polymorphism (SNP) rs1344706 in ZNF804A was strongly associated with schizophrenia and might influence social interaction. Only one study explored the significance of ZNF804A polymorphisms in autism, which discovered that rs7603001 was nominally associated with aut ...[more]

PMID: 31122238

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Project description:BackgroundAutism is a neurodevelopmental disorder with a high estimated heritability. ATP2B2, located on human chromosome 3p25.3, encodes the plasma membrane calcium-transporting ATPase 2 which extrudes Ca(2+) from cytosol into extracellular space. Recent studies reported association between ATP2B2 and autism in samples from Autism Genetic Resource Exchange (AGRE) and Italy. In this study, we investigated whether ATP2B2 polymorphisms were associated with autism in Chinese Han population.MethodsWe performed a family based association study between five SNPs (rs35678 in exon, rs241509, rs3774180, rs3774179, and rs2278556 in introns) in ATP2B2 and autism in 427 autism trios of Han Chinese descent. All SNPs were genotyped using the Sequenom genotyping platform. The family-based association test (FBAT) program was used to perform association test for SNPs and haplotype analyses.ResultsThis study demonstrated a preferential transmission of T allele of rs3774179 to affected offsprings under an additive model (T>C, Z?=?2.482, p?=?0.013). While C allele of rs3774179 showed an undertransmission from parents to affected children under an additive and a dominant model, respectively (Z?=?-2.482, p?=?0.013; Z?=?-2.591, p?=?0.0096). Haplotype analyses revealed that three haplotypes were significantly associated with autism. The haplotype C-C (rs3774180-rs3774179) showed a significant undertransmission from parents to affected offsprings both in specific and global haplotype FBAT (Z?=?-2.037, p?=?0.042; Global p?=?0.03). As for the haplotype constructed by rs3774179 and rs2278556, C-A might be a protective haplotype (Z?=?-2.206, p?=?0.027; Global p?=?0.04), while T-A demonstrated an excess transmission from parents to affected offsprings (Z?=?2.143, p?=?0.032). These results were still significant after using the permutation method to obtain empirical p values.ConclusionsOur research suggested that ATP2B2 might play a role in the etiology of autism in Chinese Han population.

Project description:BACKGROUND: The expression of ?-opioid receptor has important role in cognitive dysfunction in Schizophrenia (SZ). The results of studies about the association of polymorphisms of ?-opioid receptor gene (OPRM1) with SZ were inconsistent. METHODS: We conducted a case-control study to investigate the genetic association between OPRM1 polymorphisms and SZ among the Han chinese population. 264 SZ patients and 264 age-matched control subjects were recruited. Four SNPs of OPRM1 were successfully genotyped by using PCR-RFLP. RESULTS: Of four polymorphisms, rs1799971 and rs2075572 were shown to associate with SZ. Compared with the A allele of rs1799971 and C allele of rs2075572, the G allele of rs1799971 and rs2075572 was associated with an almost 0.46-fold risk (OR=0.46, 95% CI: 0.357-0.59, P<0.01) and 0.7-fold risk (OR=0.707, 95% CI: 0.534-0.937, P=0.015) of the occurrence of SZ,. When subjects were divided by gender, rs1799971 remained significant difference only in males (OR=0.309, 95% CI: 0.218-0.439 for G allele, P<0.01), and rs2075572 only in females (OR=0.399, 95% CI: 0.246-0.648 for G allele, P<0.01). In secondary analysis with subsets of patients, the G allele of rs1799971 (compared to the A allele) was associated with a decreased risk of all patients and male patients with apathy symptoms (OR=0.086, 95% CI: 0.048-0.151, P=0.01; OR=0.083, 95% CI: 0.045-0.153, P<0.01), and the G allele of rs2075572 (compared to the C allele) was associated with a decreased risk of all patients and female patients with positive family history (OR=0.468, 95% CI: 0.309-0.71, P<0.01; OR=0.34, 95% CI: 0.195-0.593, P<0.01). In addition, haplotype analysis revealed that two SNP haplotypes (A-C-C-G and G-C-C-A) were associated with decreased risks of SZ (P<0.01). The other two (G-C-C-G and G-G-C-G) with increased risks of SZ (P<0.01). CONCLUSIONS: The present study demonstrated for the first time that the OPRM1 polymorphism may be a risk factor for schizophrenia in the Han Chinese. Further studies are needed to give a global view of this polymorphism in pathogenesis of schizophrenia in a large-scale sample, family-based association design or well-defined subgroups of schizophrenia.

Dataset Information

Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population.

Publications

Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population.

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