Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Li, Jin; Fung, Irene; Glessner, Joseph T.; Pandey, Rahul; Wei, Zhi; Bakay, Marina; Mentch, Frank; Pellegrino, Renata; Wang, Tiancheng; Kim, Cecilia; Hou, Cuiping; Chiavacci, Rosetta M.; Thomas, Kelly; Spergel, Jonathan M.; Hákonarson, Hákon; Sleiman, Patrick

doi:10.4049/jimmunol.1402310

Cited by 21 publications

(23 citation statements)

References 54 publications

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“…In this study, the CNV locus was located in the first intron of the KCNIP1 gene. Previous studies reported that the first intron may affect the mRNA stability and RNA splicing, which could significantly alter the gene function, and change cellular response to specific targets [36,37]. The further analyses did show marked positive associations of risk copy numbers in the KCNIP1 gene with attenuated insulin and accelerated glucose level, which is consistent with the physiological role of the KCNIP1 gene in adjusting insulin secretion [38].…”

Section: Discussionsupporting

confidence: 74%

Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population

Shi

Song

et al. 2018

Endocr J

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Abstract. Copy number variation (CNV) has emerged as another important genetic marker in addition to SNP for understanding etiology of complex disease. Kv channel interacting protein 1 (KCNIP1) is a Ca 2+ -dependent transcriptional modulator that contributes to the regulation of insulin secretion. Previous genome-wide CNV assay identified the KCNIP1 gene encompassing a CNV region, however, its further effect and risk rate on type 2 diabetes (T2D) have rarely been addressed, especially in Chinese population. The current study aims to detect and excavate genetic distribution profile of KCNIP1 CNV in Chinese T2D and control populations, and further to investigate the associations with clinical characteristics. Divergent patterns of the KCNIP1 CNV were identified (p < 0.01), in which the copy number gain was predominant in T2D, while the copy number normal accounted for the most in control group. Consistently, the individuals with copy number gain showed significant risk on T2D (OR = 4.550, p < 0.01). The KCNIP1 copy numbers presented significantly positive correlations with fasting plasma glucose and glycated hemoglobin in T2D. For OGTT test, the T2D patients with copy number gain had remarkably elevated glucose contents (60, 120, 180-min, p < 0.05 or p < 0.01) and diminished insulin levels (60, 120-min, p < 0.05) than those with copy number loss and normal, which suggested that the KCNIP1 CNV was correlated with the glucose and insulin action. This is the first CNV association study of the KCNIP1 gene in Chinese population, and these data indicated that KCNIP1 might function as a T2D-susceptibility gene whose dysregulation alters insulin production.

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Section: Discussionsupporting

confidence: 74%

Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population

Shi

Song

et al. 2018

Endocr J

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“…[25] CNVs can be detected by array technology, such as array comparative genomic hybridization (aCGH) and SNP arrays, as well as whole exome or whole genome sequencing which is currently under rapid development. It has showed by numerous genetic studies that CNVs are associated with various complex diseases, such as autism [26], Attention Deficit Hyperactivity Disorder (ADHD) [27], congenital heart disease [28], amyotrophic lateral sclerosis [29], obesity [30], endometriosis [31], and food allergy [32].…”

Section: Copy Number Variation (Cnv) Studymentioning

confidence: 99%

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Jin

Wei

et al. 2016

Biochimica et Biophysica Acta (BBA) - General Subjects

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“…We also identified five GWAS with either food or peanut allergy as an outcome. Four of these were carried out in children, and the other was carried out in a population across the ages of 1‐93 years …”

Section: Resultsmentioning

confidence: 99%

Genetic determinants of paediatric food allergy: A systematic review

Suaini

Wang

Soriano

et al. 2019

Allergy

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Background The genetic determinants of food allergy have not been systematically reviewed. We therefore systematically reviewed the literature on the genetic basis of food allergy, identifying areas for further investigation. Methods We searched three electronic databases (MEDLINE, EMBASE and PubMed) on 9 January 2018. Two authors screened retrieved articles for review according to inclusion criteria and extracted relevant information on study characteristics and measures of association. Eligible studies included those that reported an unaffected nonatopic control group, had genetic information and were carried out in children. Results Of the 2088 studies retrieved, 32 met our inclusion criteria. Five were genome‐wide association studies, and the remaining were candidate gene studies. Twenty‐two of the studies were carried out in a predominantly Caucasian population with the remaining 10 from Asian‐specific populations or unspecified ethnicity. We found FLG, HLA, IL10, IL13, as well as some evidence for other variants (SPINK5, SERPINB and C11orf30) that are associated with food allergy. Conclusions Little genetic research has been carried out in food allergy, with FLG, HLA and IL13 being the most reproducible genes for an association with food allergy. Despite promising results, existing genetic studies on food allergy are inundated with issues such as inadequate sample size and absence of multiple testing correction. Few included replication analyses or population stratification measures. Studies addressing these limitations along with functional studies are therefore needed to unravel the mechanisms of action of the identified genes.

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Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy

Cited by 21 publications

References 54 publications

Divergent patterns of genic copy number variation in <i>KCNIP1</i> gene reveal risk locus of type 2 diabetes in Chinese population

Divergent patterns of genic copy number variation in <i>KCNIP1</i> gene reveal risk locus of type 2 diabetes in Chinese population

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Genetic determinants of paediatric food allergy: A systematic review

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