Association study of KCNQ1 gene rs2237892(C/T) SNP with cardiovascular diseases in Indian population

Devi, Kiran; Ahmad, Imteyaz; Aggarwal, Neeraj; Yadav, Anita; Gupta, Ranjan

doi:10.1016/j.humgen.2022.201047

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…GWAS studies have elucidated the shared genetic background and pathophysiology between coronary heart disease and type 2 diabetes [ 32 ]. A series of loci have been proven to be associated with both diseases, centering on atherosclerotic plaque destabilization [ 33 ], insulin regulation [ 34 ], and triglyceride metabolism [ 35 ]. In the present study, we detected plausible pleiotropic effects for CHD and T2D based on the SNP-set strategy.…”

Section: Snp Set Association Detected Shared Genetic Effects Between ...mentioning

confidence: 99%

Disease patterns of coronary heart disease and type 2 diabetes harbored distinct and shared genetic architecture

Xiao

Zhou

et al. 2022

Cardiovasc Diabetol

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Background Coronary heart disease (CHD) and type 2 diabetes (T2D) are two complex diseases with complex interrelationships. However, the genetic architecture of the two diseases is often studied independently by the individual single-nucleotide polymorphism (SNP) approach. Here, we presented a genotypic-phenotypic framework for deciphering the genetic architecture underlying the disease patterns of CHD and T2D. Method A data-driven SNP-set approach was performed in a genome-wide association study consisting of subpopulations with different disease patterns of CHD and T2D (comorbidity, CHD without T2D, T2D without CHD and all none). We applied nonsmooth nonnegative matrix factorization (nsNMF) clustering to generate SNP sets interacting the information of SNP and subject. Relationships between SNP sets and phenotype sets harboring different disease patterns were then assessed, and we further co-clustered the SNP sets into a genetic network to topologically elucidate the genetic architecture composed of SNP sets. Results We identified 23 non-identical SNP sets with significant association with CHD or T2D (SNP-set based association test, P < 3.70 × $${10}^{-4}$$ 10 - 4 ). Among them, disease patterns involving CHD and T2D were related to distinct SNP sets (Hypergeometric test, P < 2.17 × $${10}^{-3}$$ 10 - 3 ). Accordingly, numerous genes (e.g., KLKs, GRM8, SHANK2) and pathways (e.g., fatty acid metabolism) were diversely implicated in different subtypes and related pathophysiological processes. Finally, we showed that the genetic architecture for disease patterns of CHD and T2D was composed of disjoint genetic networks (heterogeneity), with common genes contributing to it (pleiotropy). Conclusion The SNP-set approach deciphered the complexity of both genotype and phenotype as well as their complex relationships. Different disease patterns of CHD and T2D share distinct genetic architectures, for which lipid metabolism related to fibrosis may be an atherogenic pathway that is specifically activated by diabetes. Our findings provide new insights for exploring new biological pathways.

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Section: Snp Set Association Detected Shared Genetic Effects Between ...mentioning

confidence: 99%

Disease patterns of coronary heart disease and type 2 diabetes harbored distinct and shared genetic architecture

Xiao

Zhou

et al. 2022

Cardiovasc Diabetol

View full text Add to dashboard Cite

show abstract

Interaction Between Genetic and Environmental Factors in the Pathogenesis of Cardiovascular Disease

Deepu,

Rai,

Agrawal

2024

Advances in Biochemistry in Health and Disease

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Association study of KCNQ1 gene rs2237892(C/T) SNP with cardiovascular diseases in Indian population

Cited by 2 publications

References 24 publications

Disease patterns of coronary heart disease and type 2 diabetes harbored distinct and shared genetic architecture

Disease patterns of coronary heart disease and type 2 diabetes harbored distinct and shared genetic architecture

Interaction Between Genetic and Environmental Factors in the Pathogenesis of Cardiovascular Disease

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