The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese

Second-generation antipsychotics (SGAs) play a critical role in current treatment of schizophrenia (SCZ). It has been observed that sinus bradycardia, rare but in certain situations life threatening adverse drug reaction, can be induced by SGAs across different schizophrenia populations. However, the roles of genetic factors in this phenomenon have not been studied yet. In the present study, a genome-wide association study of single nucleotide polymorphisms (SNPs) was performed on Chinese Han SCZ patients to identify susceptibility loci that were associated with sinus bradycardia induced by SGAs. This study applied microarray to obtain genotype profiles of 88 Han Chinese SCZ patients. Our results found that there were no SNPs had genome-wide significant association with sinus bradycardia induced by SGAs. The top GWAS hit located in gene KIAA0247, which mainly regulated by the tumor suppressor P53 and thus plays a role in carcinogenesis based on resent research and it should not be a susceptibility locus to sinus bradycardia induced by SGAs. Using gene-set functional analysis, we tested that if top 500 SNPs mapped genes were relevant to sinus bradycardia. The result of gene prioritization analysis showed CTNNA3 was strongly correlated with sinus bradycardia, hinting it was a susceptibility gene of this ADR. Our study provides a preliminary study of genetic variants associated with sinus bradycardia induced by SGAs in Han Chinese SCZ patients. The discovery of a possible susceptibility gene shed light on further study of this adverse drug reaction in Han Chinese SCZ patients.

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A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population

Journal of Human Genetics ◽

10.1038/jhg.2016.50 ◽

2016 ◽

Vol 61 (9) ◽

pp. 793-796 ◽

Cited By ~ 7

Author(s):

Kiyonori Miura ◽

Hiroyuki Mishima ◽

Michio Yasunami ◽

Masanori Kaneuchi ◽

Michio Kitajima ◽

...

Keyword(s):

Cervical Cancer ◽

Association Study ◽

Japanese Population ◽

Genome Wide Association Study ◽

Invasive Cervical Cancer ◽

Han Chinese ◽

Genome Wide Association ◽

Genome Wide ◽

A Genome

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A Genome-wide Association Study of Facial Morphology Identifies Novel Genetic Loci in Han Chinese

Journal of Genetics and Genomics ◽

10.1016/j.jgg.2020.10.004 ◽

2020 ◽

Author(s):

Yin Huang ◽

Dan Li ◽

Lu Qiao ◽

Yu Liu ◽

Qianqian Peng ◽

...

Keyword(s):

Association Study ◽

Genome Wide Association Study ◽

Han Chinese ◽

Genome Wide Association ◽

Facial Morphology ◽

Genetic Loci ◽

Genome Wide ◽

A Genome

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A Genome-Wide Association Study to Identify Potential Germline Copy Number Variants for Sporadic Breast Cancer Susceptibility

Cytogenetic and Genome Research ◽

10.1159/000448558 ◽

2016 ◽

Vol 149 (3) ◽

pp. 156-164 ◽

Cited By ~ 2

Author(s):

Yadav Sapkota ◽

Ashok Narasimhan ◽

Mahalakshmi Kumaran ◽

Badan S. Sehrawat ◽

Sambasivarao Damaraju

Keyword(s):

Breast Cancer ◽

Association Study ◽

Copy Number ◽

Genome Wide Association Study ◽

Genome Wide Association ◽

Frequency Effect ◽

Potential Candidate ◽

Disease Etiology ◽

Genome Wide ◽

A Genome

Breast cancer (BC) predisposition in populations arises from both genetic and nongenetic risk factors. Structural variations such as copy number variations (CNVs) are heritable determinants for disease susceptibility. The primary objectives of this study are (1) to identify CNVs associated with sporadic BC using a genome-wide association study (GWAS) design; (2) to utilize 2 distinct CNV calling algorithms to identify concordant CNVs as a strategy to reduce false positive associations in the hypothesis-generating GWAS discovery phase, and (3) to identify potential candidate CNVs for follow-up replication studies. We used Affymetrix SNP Array 6.0 data profiled on Caucasian subjects (422 cases/348 controls) to call CNVs using algorithms implemented in Nexus Copy Number and Partek Genomics Suite software. Nexus algorithm identified CNVs associated with BC (731 autosomal CNVs with >5% frequency in the total sample and Q < 0.05). Thirteen CNVs were identified when Partek algorithm-called CNVs were overlapped with Nexus-identified CNVs; these CNVs showed concordances for frequency, effect size, and direction. Coding genes present within BC-associated CNVs were known to play a role in disease etiology and prognosis. Long noncoding RNAs identified within CNVs showed tissue-specific expression, indicating potential functional relevance of the findings. The identified candidate CNVs warrant independent replication.

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