Study of associations of haplotypes of FLG gene polymorphism with the development of chronic true eczema in men

Belyaeva, Tatyana; Dispensary, Kursk Regional Clinical Dermatovenerologic

doi:10.18413/2658-6533-2020-6-2-0-2

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…All controls were clinically assessed to have no AD, other skin and atopic diseases (asthma, hay fever, allergic conjunctivitis, sensitization to allergens (air pollutants, food, medication, domestic animals, indoor allergens, etc. )), a family history of atopic diseases [ 30 ]. The cases and control group without any severe chronic disorders [ 31 ].…”

Section: Methodsmentioning

confidence: 99%

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

et al. 2021

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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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Section: Methodsmentioning

confidence: 99%

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

et al. 2021

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“…The control group consisted of healthy individuals without symptoms of AD, other skin and atopic diseases (asthma, hay fever, allergic conjunctivitis, sensitization to allergens (air pollutants, food, medication, domestic animals, indoor allergens, etc. )), a family history of atopic diseases (Belyaeva, 2020). All participants (cases and controls) had no oncological, severe autoimmune, and chronic vital organ diseases (lung, heart, or renal failure) (Ponomarenko et al, 2020a).…”

Section: Study Subjectsmentioning

confidence: 99%

Polymorphisms of the filaggrin gene are associated with atopic dermatitis in the Caucasian population of Central Russia

Churnosov

Belyaeva

Reshetnikov

et al. 2022

Gene

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Molecular-genetic determinants of atopic dermatitis (data from genome-wide studies)

Belyaeva¹,

Ponomarenko²,

Чурносов³

2020

Klin. dermatol. venerol.

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РЕЗЮМЕПриведен анализ результатов 11 полногеномных исследований атопического дерматита (АД) различными научными коллективами, выявивших более 100 GWAS-значимых полиморфных локусов, вовлеченных в формирование заболевания. Следует отметить, что, вопервых, все эти исследования АД выполнены за рубежом на выборках из различных зарубежных популяций. Выборки из российских популяций в эти исследования не включены, поэтому можно констатировать, что к настоящему времени полногеномные исследования АД в популяциях России не проводились. Во-вторых, лишь небольшое количество GWAS-значимых для АД полиморфных локусов реплицированы в различных популяциях на полногеномном уровне. В-третьих, обращает на себя внимание то, что с увеличением объема выборок больных и лиц контроля, включенных в полногеномные исследования (как правило, каждое последующее полногеномное исследование выполняется на более многочисленной выборке, чем предыдущее), количество GWAS-значимых локусов будет расти. В-четвертых, важный вклад в формирование подверженности к развитию АД, по данным полногеномных исследований, вносят мутации в гене филаггрина, не только связанные с потерей функции (loss-of-function variants) (например, rs61816761 -R501X), но и полиморфные локусы в этом гене (синонимические мутации), не связанные с аминокислотными заменами в белке филаггрина и, соответственно, не приводящие изначально к нарушению его функции.

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Study of associations of haplotypes of FLG gene polymorphism with the development of chronic true eczema in men

Cited by 3 publications

References 10 publications

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

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

Polymorphisms of the filaggrin gene are associated with atopic dermatitis in the Caucasian population of Central Russia

Molecular-genetic determinants of atopic dermatitis (data from genome-wide studies)

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