Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population
Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse rate as a part of the Korea Association Resou...
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BioMed Central
2012-06-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-10-106.pdf |
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| author | Nam Hee Kim Young Jin Kim Ji Hee Oh Yoon Shin Cho |
| author_facet | Nam Hee Kim Young Jin Kim Ji Hee Oh Yoon Shin Cho |
| author_sort | Nam Hee Kim |
| collection | DOAJ |
| description | Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse rate as a part of the Korea Association Resource (KARE) project, the genomewide association study (GWAS) that was conducted with 352,228 single nucleoride polymorphisms typed in 8,842 subjects in the Korean population. GJA1 was implied as a functionally causal gene for pulse rate from the KARE study, but lacked evidence of replication. To re-evaluate the association of a locus near GJA1 with pulse rate, we looked up this signal in another GWAS conducted in a Health Examinee-shared cohort of 3,703 samples. Not only we were able to confirm two pulse rate loci (1q32.2a near CD46 and 6q22.13c near LOCL644502) identified in the KARE GWAS, we also replicated a locus (6q22.31c) near GJA1 by the lookup in the Health Examinee GWAS. Considering that the GJA1-encoded protein is a major component of cardiac gap junctions, a functional study might be necessary to validate its genuine molecular biological role in the synchronized contraction of the heart. |
| format | Article |
| id | doaj-art-75db3d3884804b7e93400d87747e72f9 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2012-06-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-75db3d3884804b7e93400d87747e72f92025-02-02T00:52:26ZengBioMed CentralGenomics & Informatics1598-866X2234-07422012-06-0110210610910.5808/GI.2012.10.2.1062Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean PopulationNam Hee Kim0Young Jin Kim1Ji Hee Oh2Yoon Shin Cho3Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Cheongwon 363-951, Korea.Division of Structural and Functional Genomics, Center for Genome Science, Korea National Institute of Health, Cheongwon 363-951, Korea.Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse rate as a part of the Korea Association Resource (KARE) project, the genomewide association study (GWAS) that was conducted with 352,228 single nucleoride polymorphisms typed in 8,842 subjects in the Korean population. GJA1 was implied as a functionally causal gene for pulse rate from the KARE study, but lacked evidence of replication. To re-evaluate the association of a locus near GJA1 with pulse rate, we looked up this signal in another GWAS conducted in a Health Examinee-shared cohort of 3,703 samples. Not only we were able to confirm two pulse rate loci (1q32.2a near CD46 and 6q22.13c near LOCL644502) identified in the KARE GWAS, we also replicated a locus (6q22.31c) near GJA1 by the lookup in the Health Examinee GWAS. Considering that the GJA1-encoded protein is a major component of cardiac gap junctions, a functional study might be necessary to validate its genuine molecular biological role in the synchronized contraction of the heart.http://genominfo.org/upload/pdf/gni-10-106.pdfassociationgenome-wide association studypulse rate |
| spellingShingle | Nam Hee Kim Young Jin Kim Ji Hee Oh Yoon Shin Cho Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population Genomics & Informatics association genome-wide association study pulse rate |
| title | Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population |
| title_full | Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population |
| title_fullStr | Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population |
| title_full_unstemmed | Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population |
| title_short | Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population |
| title_sort | replication of the association of the 6q22 31c locus near with pulse rate in the korean population |
| topic | association genome-wide association study pulse rate |
| url | http://genominfo.org/upload/pdf/gni-10-106.pdf |
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