Identification of <i>OCA2</i> as a novel locus for the co‐morbidity of asthma‐plus‐eczema

Margaritte‐Jeannin, Patricia; Budu-Aggrey, Ashley; Ege, Markus; Madore, Anne-Marie; Linhard, Christophe; Mohamdi, Hamida; Mutius, Erika von; Granell, Raquel; Demenais, Florence; Laprise, Catherine; Dizier, Marie‐Hélène

doi:10.1111/cea.13972

Cited by 6 publications

(6 citation statements)

References 52 publications

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“…They identified two polymorphisms in a novel locus, OCA2, which has not previously been linked with asthma or eczema. 10…”

Section: Conflicts Of Interest Have Been Cited As a Major Issue In De-mentioning

confidence: 99%

“…Finally, Margaritte‐Jeannin et al 10 report findings from a genome‐wide association study that focuses on the combined phenotype of asthma/eczema. While many individuals suffer from just one allergic condition, those with the more troublesome disease usually have multiple allergic conditions.…”

Section: Figurementioning

confidence: 99%

“…Margaritte‐Jeannin et al undertook a genome‐wide association study and meta‐analysis of other similar studies to identify whether there were specific single nucleotide polymorphisms associated with the combined phenotype of asthma/eczema, different to those linked with asthma or eczema alone. They identified two polymorphisms in a novel locus, OCA2, which has not previously been linked with asthma or eczema 10 …”

Section: Figurementioning

confidence: 99%

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Milk allergy over‐diagnosis

Boyle

Shamji

2022

Clin Experimental Allergy

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“…They identified two polymorphisms in a novel locus, OCA2, which has not previously been linked with asthma or eczema. 10…”

Section: Conflicts Of Interest Have Been Cited As a Major Issue In De-mentioning

confidence: 99%

Section: Figurementioning

confidence: 99%

Section: Figurementioning

confidence: 99%

See 1 more Smart Citation

Milk allergy over‐diagnosis

Boyle

Shamji

2022

Clin Experimental Allergy

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“…LRPB1 has been primarily described as a cancer-driving gene 81 , for example in multiple myeloma 83 . It has also been associated with asthma 84 and eczema 85 in human GWAS (Table 3 and Supplementary Data 15), and with cognitive decline 86 , Alzheimer's disease 87 , and infant cognitive ability 88 . The gene KYNU, encoding the enzyme kynureninase, is located 774 kb from chr19:sel and is the closest neighboring gene to LRP1B.…”

Section: Discussionmentioning

confidence: 99%

Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis

et al. 2022

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Canine atopic dermatitis is an inflammatory skin disease with clinical similarities to human atopic dermatitis. Several dog breeds are at increased risk for developing this disease but previous genetic associations are poorly defined. To identify additional genetic risk factors for canine atopic dermatitis, we here apply a Bayesian mixture model adapted for mapping complex traits and a cross-population extended haplotype test to search for disease-associated loci and selective sweeps in four dog breeds at risk for atopic dermatitis. We define 15 associated loci and eight candidate regions under selection by comparing cases with controls. One associated locus is syntenic to the major genetic risk locus (Filaggrin locus) in human atopic dermatitis. One selection signal in common type Labrador retriever cases positions across the TBC1D1 gene (body weight) and one signal of selection in working type German shepherd controls overlaps the LRP1B gene (brain), near the KYNU gene (psoriasis). In conclusion, we identify candidate genes, including genes belonging to the same biological pathways across multiple loci, with potential relevance to the pathogenesis of canine atopic dermatitis. The results show genetic similarities between dog and human atopic dermatitis, and future across-species genetic comparisons are hereby further motivated.

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“…Moreover, continuous covariates were standardized for variance normalization. A significance threshold of 1 × 10 −6 was considered [ 40 ].…”

Section: Methodsmentioning

confidence: 99%

Genomic analysis of severe COVID-19 considering or not asthma comorbidity: GWAS insights from the BQC19 cohort

Amri,

Madore,

Boucher-Lafleur

et al. 2024

BMC Genomics

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Background The severity of COVID-19 is influenced by various factors including the presence of respiratory diseases. Studies have indicated a potential relationship between asthma and COVID-19 severity. Objective This study aimed to conduct a genome-wide association study (GWAS) to identify genetic and clinical variants associated with the severity of COVID-19, both among patients with and without asthma. Methods We analyzed data from 2131 samples sourced from the Biobanque québécoise de la COVID-19 (BQC19), with 1499 samples from patients who tested positive for COVID-19. Among these, 1110 exhibited mild-to-moderate symptoms, 389 had severe symptoms, and 58 had asthma. We conducted a comparative analysis of clinical data from individuals in these three groups and GWAS using a logistic regression model. Phenotypic data analysis resulted in the refined covariates integrated into logistic models for genetic studies. Results Considering a significance threshold of 1 × 10−6, seven genetic variants were associated with severe COVID-19. These variants were located proximal to five genes: sodium voltage-gated channel alpha subunit 1 (SCN10A), desmoplakin (DSP), RP1 axonemal microtubule associated (RP1), IGF like family member 1 (IGFL1), and docking protein 5 (DOK5). The GWAS comparing individuals with severe COVID-19 with asthma to those without asthma revealed four genetic variants in transmembrane protein with EGF like and two follistatin like domains 2 (TMEFF2) and huntingtin interacting protein-1 (HIP1) genes. Conclusion This study provides significant insights into the genetic profiles of patients with severe forms of the disease, whether accompanied by asthma or not. These findings enhance our comprehension of the genetic factors that affect COVID-19 severity. Key messages Seven genetic variants were associated with the severe form of COVID-19; Four genetic variants were associated with the severe form of COVID-19 in individuals with comorbid asthma; These findings help define the genetic component of the severe form of COVID-19 in relation to asthma as a comorbidity.

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Identification of OCA2 as a novel locus for the co‐morbidity of asthma‐plus‐eczema

Cited by 6 publications

References 52 publications

Milk allergy over‐diagnosis

Milk allergy over‐diagnosis

Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis

Genomic analysis of severe COVID-19 considering or not asthma comorbidity: GWAS insights from the BQC19 cohort

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