Filaggrin gene polymorphisms are associated with atopic dermatitis in women but not in men in the Caucasian population of Central Russia

Background and purpose This study aimed to analyze the gender-specific association of the filaggrin (FLG) gene polymorphisms with atopic dermatitis (AD) in Caucasians from the central region of Russia. Methods The study sample consisted of 906 female (including 474 patients with AD and 432 controls) and 406 male (such as 226 patients with AD and 180 controls) participants. Genotyping of ten polymorphisms of the FLG gene was done. The logistic regression was used to analyze the associations. A total of 125 SNPs (seven AD-associated SNPs and 118 proxy SNPs, r2≥0.8) FLG gene were used for the in silico functional annotation analysis in the females. Results Significant associations were identified between seven SNPs of the FLG gene (rs12130219, rs61816761, rs558269137, rs12144049, rs3126085, rs471144, rs6661961) and AD in females: rs12144049 was associated independent individually (for allele C OR = 1.71, 95%Сl 1.19–2.46, рperm = 0.004 and OR = 1.76, 95%Сl 1.18–2.63, рperm = 0.006 according to the additive and dominant genetic models, respectively) and seven SNPs of the FLG gene within 14 haplotypes. Haplotype GGT [rs61816761-rs3126085-rs12144049] showed the strongest association (OR = 0.55, рperm = 0.001). No association between the analyzed SNPs and AD was determined in the male group. The subsequent bioinformatic analysis predicted the SNPs of the FLG gene that possessed epigenetic and non-synonymous effects, were involved in the control of gene expression and alternative splicing of genes that contribute to AD pathophysiology. Conclusion Polymorphisms of the FLG gene are associated with AD in females but not in males in the Caucasian population of Central Russia.

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Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD)

Cells ◽

10.3390/cells9102257 ◽

2020 ◽

Vol 9 (10) ◽

pp. 2257

Author(s):

Christina Kiel ◽

Tobias Strunz ◽

Felix Grassmann ◽

Bernhard H. F. Weber ◽

Keyword(s):

Gene Expression ◽

Blood Pressure ◽

Macular Degeneration ◽

Choroidal Neovascularization ◽

Functional Annotation ◽

Gene Expression Regulation ◽

Age Related Macular Degeneration ◽

Age Related ◽

Specific Association ◽

Gender Specific

Genome-wide association studies (GWAS) have identified an abundance of genetic loci associated with complex traits and diseases. In contrast, in-depth characterization of an individual genetic signal is rarely available. Here, we focus on the genetic variant rs2168518 in 15q24.1 previously associated with age-related macular degeneration (AMD), but only with suggestive evidence. In a two-step procedure, we initially conducted a series of association analyses to further delineate the association of rs2168518 with AMD but also with other complex phenotypes by using large independent datasets from the International AMD Genomics Consortium (IAMDGC) and the UK Biobank. We then performed a functional annotation with reference to gene expression regulation based on data from the Genotype-Tissue Expression (GTEx) project and RegulomeDB. Association analysis revealed a gender-specific association with male AMD patients and an association predominantly with choroidal neovascularization. Further, the AMD association colocalizes with an association signal of several blood pressure-related phenotypes and with the gene expression regulation of CYP1A1, a member of the cytochrome P450 superfamily of monooxygenases. Functional annotation revealed altered transcription factor (TF) binding sites for gender-specific TFs, including SOX9 and SRY. In conclusion, the pleiotropic 15q24.1 association signal suggests a shared mechanism between blood pressure regulation and choroidal neovascularization with a potential involvement of CYP1A1.

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Gender-Specific Association of Methylenetetrahydrofolate Reductase Gene Polymorphisms with Sporadic Amyotrophic Lateral Sclerosis

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2011.0313 ◽

2012 ◽

Vol 16 (7) ◽

pp. 716-721 ◽

Cited By ~ 3

Author(s):

Ali Sazci ◽

Mavi Deniz Ozel ◽

Ergul Emel ◽

Halil Atilla Idrisoglu

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Gene Polymorphisms ◽

Methylenetetrahydrofolate Reductase ◽

Sporadic Amyotrophic Lateral Sclerosis ◽

Reductase Gene ◽

Specific Association ◽

Gender Specific ◽

Lateral Sclerosis ◽

Methylenetetrahydrofolate Reductase Gene

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Gender-specific association between Apelin/APJ gene polymorphisms and hypertension risk in Southeast China

Gene ◽

10.1016/j.gene.2018.05.079 ◽

2018 ◽

Vol 669 ◽

pp. 63-68 ◽

Cited By ~ 4

Author(s):

Xiao-dan Wu ◽

Na Zhang ◽

Min Liang ◽

Wei-lin Liu ◽

Bing-bing Lin ◽

...

Keyword(s):

Gene Polymorphisms ◽

Southeast China ◽

Hypertension Risk ◽

Specific Association ◽

Gender Specific

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Allelic variants in the zinc transporter-3 gene, SLC30A3, a candidate gene identified from gene expression studies, show gender-specific association with schizophrenia

European Psychiatry ◽

10.1016/j.eurpsy.2013.05.007 ◽

2014 ◽

Vol 29 (3) ◽

pp. 172-178 ◽

Cited By ~ 12

Author(s):

C. Perez-Becerril ◽

A.G. Morris ◽

A. Mortimer ◽

P.J. McKenna ◽

J. de Belleroche

Keyword(s):

Gene Expression ◽

Cognitive Function ◽

Zinc Transporter ◽

Synaptic Function ◽

Single Nucleotide ◽

Expression Of Genes ◽

Expression Studies ◽

Gene Expression Studies ◽

Specific Association ◽

Gender Specific

AbstractPrevious microarray analysis of gene expression in frontal cortex showed differential expression of genes associated with synaptic function in schizophrenia compared to matched-controls in two independent cohorts. One of these genes validated in both cohorts, SLC30A3, which encodes the Zinc Transporter 3 (ZNT3), is localised to synaptic vesicles in glutamate synapses and known to be involved in cognitive function. In view of the robust depletion of SLC30A3 mRNA in two independent studies and the importance of this gene in cognitive function, we investigated whether single nucleotide polymorphism (SNP) associations with schizophrenia could be detected in a UK case controlled schizophrenia cohort. Four SNPs were selected across this gene and genotyped in a cohort of cases and controls from East UK. We found significant associations with schizophrenia at the allelic (ORs: 1.51 to 1.57), genotype (ORs: 1.46 to 1.53) and haplotype level (P = 2.15 × 10−4). These associations proved to be gender-specific with significant effects of allele (ORs: 1.74 to 2.11), genotype (ORs: 1.78 to 2.14) and haplotype (P = 3.51 × 10−5) observed in female schizophrenia cases but not males, when split by gender. In conclusion, SNPs in SLC30A3 showed a gender-specific association with schizophrenia in this East UK cohort, which merits further investigation in other population samples.

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