Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population.

  title={Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population.},
  author={Yan-Yan Wu and Jian-ping Tang and Qiang Liu and Xiao-dong Zheng and Ling Fang and Xianyong Yin and Xiaoyun Jiang and Fusheng Zhou and Fei Zhu and Bo Liang and Yang Li and Xianbo Zuo and Xuejun Zhang and Fengli Xiao},

Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing

This study confirms previous findings that the TMEM232 gene is associated with AD by haplotype analysis and targeted capture sequencing.

Association of Genetic Polymorphisms with Atopic Dermatitis, Clinical Severity and Total IgE: A Replication and Extended Study

The replication and extended study provide additional supporting information on the genetic associations related to AD, its clinical severity and IgE involvement.

Genetics and Epigenetics of Atopic Dermatitis: An Updated Systematic Review

Filaggrin (FLG) polymorphisms are confirmed as key genetic determinants for AD development, but also epigenetic regulation and other genes with functions mainly related to the immune system and extracellular matrix are reinforced, reinforcing the notion of skin homeostasis breakage in AD.

Clonality and heterogeneity of metachronous colorectal cancer

Two different clonal relationships between metachronous tumors exist in CRC, one is monoclonal and the other is polyclonal, which may help to advance understanding of the differences in metachronic CRCs and the genetic mechanisms of which they originate, and provide new avenues for CRC treatment.

Computational Analysis Identifies Novel Biomarkers for High-Risk Bladder Cancer Patients

This work analyzes a dataset describing patients with bladder cancer, mostly non-muscle-invasive (NMIBC), and proposes a novel approach to feature selection, which results in a small set of seven of the most-useful biomarkers for diagnostics.

Data-driven research on eczema: systematic characterization of the field and recommendations for the future

Research areas that could benefit from the application of data-driven methods include the study of the pathogenesis of the condition and related risk factors, its disaggregation into validated subtypes, and personalized severity management and prognosis.




A genome-wide association meta-analysis of affected individuals and controls and the ten most strongly associated new susceptibility loci examined underline the importance of both epidermal barrier function and immune dysregulation in atopic dermatitis pathogenesis.

Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population

This study identifies new genetic susceptibility factors and suggests previously unidentified biological pathways in atopic dermatitis, which is a chronic, relapsing form of inflammatory skin disorder that is affected by genetic and environmental factors.

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population

The findings advance the understanding of the genetic basis of atopic dermatitis and replicate the associations of the FLG, C11orf30, TMEM232-SLC25A46, TNFRSF6B-ZGPAT, OVOL1, ACTL9 and KIF3A-IL13 loci that were previously reported in GWAS of European and Chinese individuals.

Genetic association between an AACC insertion in the 3'UTR of the stratum corneum chymotryptic enzyme gene and atopic dermatitis.

The findings suggest that SCCE could have an important role in the development of atopic dermatitis, and a significant trend between the AACC allele with the two insertions and disease in the overall data set is found.

A common variant on chromosome 11q13 is associated with atopic dermatitis

Highly significant association was found with allele A of rs7927894 on chromosome 11q13.5, located 38 kb downstream of C11orf30, and their risk of developing atopic dermatitis is 1.47 times that of noncarriers.

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

The number of atopic dermatitis risk loci reported in individuals of European ancestry is increased to 11, and it is estimated that these susceptibility loci together account for 14.4% of the heritability for atopy dermatitis.

Molecular Genetic of Atopic dermatitis: An Update.

It is clarified that AD is significantly associated with genes of innate/adaptive immune systems, human leukocyte antigens (HLA), cytokines, chemokines, drug-metabolizing genes or various other genes.

Association of 3 gene polymorphisms with atopic diseases.

Multi-ethnic genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Ten new risk loci are identified for atopic dermatitis, bringing the total number of known atopic skin disease susceptibility loci to 31 (with new secondary signals at four of these loci), underscoring the important contribution of (auto)immune mechanisms to atopy dermatitis pathogenesis.

Bayesian refinement of association signals for 14 loci in 3 common diseases

Very few SNPs in the authors' credible sets had annotated functions, illustrating the limitations in understanding the mechanisms underlying susceptibility to common diseases, and show the value of more detailed mapping to target sequences for functional studies.