Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population
Jiawu Fu,1,* Guoda Ma,1,* Hui Mai,1,* Xudong Luo,2 Jingwen Yin,2 Qing Chen,2 Zhixiong Lin,2 Hua Tao,1 You Li,1 Lili Cui,1 Zheng Li,3 Juda Lin,2 Bin Zhao,1 Keshen Li1 1Institute of Neurology, Affiliated Hospital of Guangdong Medical University, 2Department of Psychiatry, Affiliated Hospital of Guang...
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Dove Medical Press
2015
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oai:doaj.org-article:408d043c34e6452280069d48186f9d822021-12-02T01:17:46ZAssociation study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population1178-2021https://doaj.org/article/408d043c34e6452280069d48186f9d822015-10-01T00:00:00Zhttps://www.dovepress.com/association-study-of-sepiapterin-reductase-gene-promoter-polymorphisms-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Jiawu Fu,1,* Guoda Ma,1,* Hui Mai,1,* Xudong Luo,2 Jingwen Yin,2 Qing Chen,2 Zhixiong Lin,2 Hua Tao,1 You Li,1 Lili Cui,1 Zheng Li,3 Juda Lin,2 Bin Zhao,1 Keshen Li1 1Institute of Neurology, Affiliated Hospital of Guangdong Medical University, 2Department of Psychiatry, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People’s Republic of China; 3Unit on Synapse Development and Plasticity, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA *These authors contributed equally to this work Abstract: Sepiapterin reductase participates in the biosynthesis of tetrahydrobiopterin, which plays very important roles in the pathogenesis of schizophrenia via dysregulation of ­neurotransmitter systems. Here, two single nucleotide polymorphisms (rs1876487 and rs2421095) in the promoter region of SPR were genotyped in 941 schizophrenic patients and 944 controls in a Han Chinese population using the SNaPshot technique. No significant differences were found in the distribution of alleles or genotypes of the two single nucleotide polymorphisms (SNPs) between schizophrenic patients and controls (all P>0.05). Likewise, no haplotype was found to be associated with schizophrenia. However, sex-stratified analysis revealed that the frequencies of the A allele of rs1876487 and the A–A (rs2421095–rs1876487) haplotype were all significantly different between schizophrenia and controls in females (P=0.040 and P=0.033, respectively), but not in males. Additionally, luciferase reporter gene assays revealed that the A–A haplotype had significantly higher SPR transcriptional activity compared with the A–C haplotype in SH-SY5Y cells. Our data indicate that the two SNPs do not influence the risk of schizophrenia when using the total sample, but the A allele of rs1876487 and the A–A haplotype may contribute to protective roles for schizophrenia in females. Keywords: schizophrenia, sepiapterin reductase, polymorphisms, Han Chinese population, transcriptional activityFu JWMa GDMai HLuo XDYin JWChen QLin ZXTao HLi YCui LLLi ZLin JDZhao BLi KSDove Medical PressarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol 2015, Iss default, Pp 2793-2799 (2015) |
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Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 |
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Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Fu JW Ma GD Mai H Luo XD Yin JW Chen Q Lin ZX Tao H Li Y Cui LL Li Z Lin JD Zhao B Li KS Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| description |
Jiawu Fu,1,* Guoda Ma,1,* Hui Mai,1,* Xudong Luo,2 Jingwen Yin,2 Qing Chen,2 Zhixiong Lin,2 Hua Tao,1 You Li,1 Lili Cui,1 Zheng Li,3 Juda Lin,2 Bin Zhao,1 Keshen Li1 1Institute of Neurology, Affiliated Hospital of Guangdong Medical University, 2Department of Psychiatry, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People’s Republic of China; 3Unit on Synapse Development and Plasticity, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA *These authors contributed equally to this work Abstract: Sepiapterin reductase participates in the biosynthesis of tetrahydrobiopterin, which plays very important roles in the pathogenesis of schizophrenia via dysregulation of ­neurotransmitter systems. Here, two single nucleotide polymorphisms (rs1876487 and rs2421095) in the promoter region of SPR were genotyped in 941 schizophrenic patients and 944 controls in a Han Chinese population using the SNaPshot technique. No significant differences were found in the distribution of alleles or genotypes of the two single nucleotide polymorphisms (SNPs) between schizophrenic patients and controls (all P>0.05). Likewise, no haplotype was found to be associated with schizophrenia. However, sex-stratified analysis revealed that the frequencies of the A allele of rs1876487 and the A–A (rs2421095–rs1876487) haplotype were all significantly different between schizophrenia and controls in females (P=0.040 and P=0.033, respectively), but not in males. Additionally, luciferase reporter gene assays revealed that the A–A haplotype had significantly higher SPR transcriptional activity compared with the A–C haplotype in SH-SY5Y cells. Our data indicate that the two SNPs do not influence the risk of schizophrenia when using the total sample, but the A allele of rs1876487 and the A–A haplotype may contribute to protective roles for schizophrenia in females. Keywords: schizophrenia, sepiapterin reductase, polymorphisms, Han Chinese population, transcriptional activity |
| format |
article |
| author |
Fu JW Ma GD Mai H Luo XD Yin JW Chen Q Lin ZX Tao H Li Y Cui LL Li Z Lin JD Zhao B Li KS |
| author_facet |
Fu JW Ma GD Mai H Luo XD Yin JW Chen Q Lin ZX Tao H Li Y Cui LL Li Z Lin JD Zhao B Li KS |
| author_sort |
Fu JW |
| title |
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| title_short |
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| title_full |
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| title_fullStr |
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| title_full_unstemmed |
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population |
| title_sort |
association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a han chinese population |
| publisher |
Dove Medical Press |
| publishDate |
2015 |
| url |
https://doaj.org/article/408d043c34e6452280069d48186f9d82 |
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