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Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients
- Source :
- Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021), Scientific Reports
- Publication Year :
- 2021
- Publisher :
- Springer Science and Business Media LLC, 2021.
-
Abstract
- With polygenic risk score (PRS) for autoimmune type 1 diabetes (T1D), this study identified T1D cases with low T1D PRS and searched for susceptibility loci in these cases. Our hypothesis is that genetic effects (likely mediated by relatively rare genetic variants) of non-mainstream (or non-autoimmune) T1D might have been diluted in the previous studies on T1D cases in general. Two cohorts for the PRS modeling and testing respectively were included. The first cohort consisted of 3302 T1D cases and 6181 controls, and the independent second cohort consisted of 3297 T1D cases and 6169 controls. Cases with low T1D PRS were identified using PRSice-2 and compared to controls with low T1D PRS by genome-wide association (GWA) test. Thirteen novel genetic loci with high imputation quality (Quality Score r2 > 0.91) were identified of SNPs/SNVs associated with low PRS T1D at genome-wide significance (P ≤ 5.0 × E−08), in addition to 4 established T1D loci, 3 reported loci by our previous study, as well as 9 potential novel loci represented by rare SNVs, but with relatively low imputation quality (Quality Score r2
- Subjects :
- Male
endocrine system
Adolescent
endocrine system diseases
Science
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
Article
Autoimmune Diseases
Cohort Studies
Endocrinology
Intergenic region
Risk Factors
immune system diseases
Glucose Intolerance
medicine
Humans
Genetic Predisposition to Disease
Obesity
Child
Genetic association study
Genetics
Type 1 diabetes
Multidisciplinary
Infant, Newborn
Infant
nutritional and metabolic diseases
medicine.disease
United States
Diabetes Mellitus, Type 1
Phenotype
Genetic Loci
Case-Control Studies
Child, Preschool
Cohort
Quality Score
Medicine
Female
Polygenic risk score
Imputation (genetics)
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 20452322
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Scientific Reports
- Accession number :
- edsair.doi.dedup.....f8cb23b7566f957bd96164179e603687