IFNGR2 genetic polymorphism associated with sex-specific paranoid schizophrenia risk

Jemli, Achraf; Inoubli, Oumaima; Trifa, Fatma; Mechri, A.; Zaâfrane, F.; Gaha, L.; Jrad, Besma Bel Hadj

doi:10.1080/08039488.2016.1216595

Cited by 10 publications

(10 citation statements)

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“…The haplotype analysis not only confirmed the association between rs44536634 and SCZ, but also supported that rs44536634 allele A was associated with an increased risk of SCZ in females. Furthermore, our research provided an evidence to support the distinct molecular phenotypes of SCZ patients with different gender, as reported in previous studies (Ben Nejma et al, 2013;Jemli et al, 2017;Ramsey et al, 2013).…”

Section: Discussionsupporting

confidence: 87%

“…A study conducted by Oumaima et al indicated that minor alleles of SNPs in genes LTA and TNFA were over-represented in male SCZ patients but not in female schizophrenia patients (Inoubli et al, 2018). Jemli et al (2017) researched the association between the functional polymorphism of IFNGR2 with SCZ and found the IFNGR2 Q64R polymorphism was associated with SCZ in males. The study conducted by Yang et al (2016) showed that the genotypes and allele distributions of rs3087494 in PLA2G12A were significantly associated with SCZ in males, but not in females.…”

Section: Discussionmentioning

confidence: 99%

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Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

Zhou

Bai

et al. 2020

PeerJ

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Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

Zhou

Bai

et al. 2020

PeerJ

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“…Accordingly, the potential neuropathological contributions of IFNg have not escaped attention. Polymorphisms in the IFNg gene and its receptor were recently associated with the development of schizophrenia (Jemli et al, 2016;H.J. Kim et al, 2012;Paul-Samojedny et al, 2011) and acute manifestations of the disease have been correlated with decreased levels of IFNg (Arolt et al, 2000).…”

Section: Neuropsychiatric Alterationsmentioning

confidence: 99%

Brain interference: Revisiting the role of IFNγ in the central nervous system

Monteiro

Roque

Marques

et al. 2017

Progress in Neurobiology

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Interferon gamma (IFNγ) is a pro-inflammatory cytokine, first described as a secreted molecule capable of interfering with viral replication. Since then, numerous other important actions in the context of the immune response to invading pathogens (including those invading the brain) have been ascribed to this pleiotropic cytokine. Nevertheless, the precise role of IFNγ in neuropsychiatric and neurodegenerative disorders, and its possible contribution to the regulation of normal brain function, remains enigmatic. This review integrates and considers current knowledge about IFNγ actions with accumulating evidence of its importance on neurocytogenesis, synaptic plasticity and neurodegeneration within the framework of brain health and disease.

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“…A study conducted by Oumaima et al indicated that minor alleles of SNPs in genes LTA and TNFA were over-represented in male schizophrenia patients but not in female schizophrenia patients (Inoubli et al 2018). Jemli et al researched Manuscript to be reviewed polymorphism was associated with schizophrenia in males (Jemli et al 2017). The study conducted by Yang Guang et.al showed that the genotypes and allele distributions of rs3087494 in PLA2G12A were significantly associated with schizophrenia in males, but not in females (Yang et al 2016).…”

Section: Manuscript To Be Reviewedmentioning

confidence: 99%

“…Furthermore, our research provided an evidence to support the distinct molecular phenotypes of schizophrenia patients with different gender, as reported in previous studies. (Ben Nejma et al 2013;Jemli et al 2017;Ramsey et al 2013).…”

Section: Manuscript To Be Reviewedmentioning

confidence: 99%

Peer Review #2 of "Association of the CACNA2D2 gene with schizophrenia in Chinese Han population (v0.1)"

2020

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Background. Schizophrenia is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including schizophrenia. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and schizophrenia in the Han Chinese population of Northeast China.. Methods. A total of 761 schizophrenia patients and 775 healthy controls were involved in this casecontrol study. Three SNPs (rs3806706, rs45536634, and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ 2) in males and females respectively using software SPSS24.0. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate (FDR) correction was utilized to control for Type I error by R3.2.3. Results. There was a significant difference in allele frequencies (χ 2 =9.545, P adj =0.006) and genotype distributions (χ 2 =9.275, P adj =0.006) of rs45536634 between female schizophrenia patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR=1.871, 95%CI=1.251-2.798) and genotype GA+AA (OR=1.931, 95%CI=1.259-2.963) were associated with an increased risk of schizophrenia. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of schizophrenia (OR=1.91, 95%CI=1.26-2.90) compared those with other haplotypes. Conclusions. This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to schizophrenia in Han Chinese women.

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IFNGR2 genetic polymorphism associated with sex-specific paranoid schizophrenia risk

Abstract: The IFNGR2Q64R polymorphism is correlated with male sex and paranoid schizophrenia. It is suggested that a chronic neuroinflammation may predispose to the paranoid schizophrenia development in men.

Cited by 10 publications

References 50 publications

Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

Brain interference: Revisiting the role of IFNγ in the central nervous system

Peer Review #2 of "Association of the CACNA2D2 gene with schizophrenia in Chinese Han population (v0.1)"

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