Association analysis of copy number variations in type 2 diabetes-related susceptible genes in a Chinese population

Association analysis of copy number variations in type 2 diabetes-related susceptible genes in a... Aims Copy number variations (CNVs) have been implicated as an important genetic marker of common disease. In this study, we explored genetic effects of common CNVs in Type 2 diabetes (T2D) related susceptible genes in Chinese population. Methods Seven common CNV loci were selected from genes enclosing the susceptible single nucleotide polymorphisms (SNPs) of T2D confirmed by genome-wide association studies (GWAS) and replication studies conducted in east Asia population. The CNVs and SNPs were genotyped in 504 T2D patients and 494 non-T2D controls. Cumulative effect of the positive CNV loci was measured using genetic risk score (GRS). Multiplicative and additive interaction between candidate CNV loci and SNPs were assessed. Results Compared with the common two copies, the deletion of nsv6360 (adjusted OR = 2.28, 95% CI 1.37–3.78, P = 0.001), nsv8414 (adjusted OR = 1.89, 95% CI 1.16–3.08, P = 0.006) and nsv1898 (adjusted OR = 1.84, 95% CI 1.19–2.84, P = 0.005) were significantly associated with increased risk of T2D (P < 0.007). Significant dose–response relationship was observed between GRS and the risk of T2D (χ for trend = 19.51, P < 0.001). In addition, significant additive interactions between nsv8414 and rs17584499 in PTPRD (AP = 0.60, 95% http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Diabetologica Springer Journals

Association analysis of copy number variations in type 2 diabetes-related susceptible genes in a Chinese population

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Publisher
Springer Milan
Copyright
Copyright © 2018 by Springer-Verlag Italia S.r.l., part of Springer Nature
Subject
Medicine & Public Health; Internal Medicine; Diabetes; Metabolic Diseases
ISSN
0940-5429
eISSN
1432-5233
D.O.I.
10.1007/s00592-018-1168-1
Publisher site
See Article on Publisher Site

Abstract

Aims Copy number variations (CNVs) have been implicated as an important genetic marker of common disease. In this study, we explored genetic effects of common CNVs in Type 2 diabetes (T2D) related susceptible genes in Chinese population. Methods Seven common CNV loci were selected from genes enclosing the susceptible single nucleotide polymorphisms (SNPs) of T2D confirmed by genome-wide association studies (GWAS) and replication studies conducted in east Asia population. The CNVs and SNPs were genotyped in 504 T2D patients and 494 non-T2D controls. Cumulative effect of the positive CNV loci was measured using genetic risk score (GRS). Multiplicative and additive interaction between candidate CNV loci and SNPs were assessed. Results Compared with the common two copies, the deletion of nsv6360 (adjusted OR = 2.28, 95% CI 1.37–3.78, P = 0.001), nsv8414 (adjusted OR = 1.89, 95% CI 1.16–3.08, P = 0.006) and nsv1898 (adjusted OR = 1.84, 95% CI 1.19–2.84, P = 0.005) were significantly associated with increased risk of T2D (P < 0.007). Significant dose–response relationship was observed between GRS and the risk of T2D (χ for trend = 19.51, P < 0.001). In addition, significant additive interactions between nsv8414 and rs17584499 in PTPRD (AP = 0.60, 95%

Journal

Acta DiabetologicaSpringer Journals

Published: Jun 1, 2018

References

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