scholarly journals Association of TLR6 single nucleotide polymorphisms and clinical features of ischemic stroke in Korean population

2013 ◽  
Vol 9 (6) ◽  
pp. 526-531 ◽  
Author(s):  
Seung-Ae Yang
Keyword(s):  
Ischemic Stroke ◽  
Single Nucleotide Polymorphisms ◽  
Clinical Features ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Positive Association of Obesity with Single Nucleotide Polymorphisms of Syndecan 3 in the Korean Population

2006 ◽  
Vol 91 (12) ◽  
pp. 5095-5099 ◽  
Author(s):  
Eunyoung Ha ◽  
Mi-Ja Kim ◽  
Bong-Keun Choi ◽  
Jung-Jae Rho ◽  
Dong-Jae Oh ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Positive Association ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Discovery of BRCA1/BRCA2 Founder Variants by Haplotype Analysis

2021 ◽  
Author(s):  
Won Kyung Kwon ◽  
Hyeok-Jae Jang ◽  
Jeong Eon Lee ◽  
Yeon Hee Park ◽  
Jai Min Ryu ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Single Nucleotide Polymorphisms ◽  
Haplotype Analysis ◽  
Medical Center ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pathogenic Variants ◽  
Ovarian Cancers ◽  
Brca1 Brca2

Abstract A significant number of hereditary breast or ovarian cancers are caused by germline variants, mostly BRCA1/BRCA2 genes. Because genetic predispositions vary by ethnicity, several studies have reported founder variants of BRCA1/BRCA2 genes. Such founder variants were reported primarily based on their relevant population frequencies. We reviewed the variant data relating to BRCA1 and BRCA2 genes from January, 2012 to March 2019 at Samsung Medical Center, Seoul, Korea. Among the cases with pathogenic variants (PVs) or likely pathogenic variants (LPVs), we defined recurrent variants as those found in more than five unrelated patients. Using single nucleotide polymorphisms, we analyzed patient haplotypes. There were 14 recurrent variants in the BRCA1 gene and seven variants in the BRCA2 gene. Of note, three variants in each gene were primarily detected in Korean populations. Among them, the c.5339T > C BRCA1 variant had a long block sized 74.5 kb. In BRCA2, the c.1399A > T variant had a long block sized 35.5 kb. We suggest that BRCA1 c.5339T > C and BRCA2 c.1399A > T are founder variants of the Korean population. These two recurrent variants were ethnicity-prevalent, primarily found in Korean populations, and the sizes of the linkage disequilibrium blocks are longer than others.

scholarly journals Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population

2003 ◽  
Vol 48 (5) ◽  
pp. 213-216 ◽  
Author(s):  
Jong-Keuk Lee ◽  
Hung-Tae Kim ◽  
Sung-Mi Cho ◽  
Kyung-Hee Kim ◽  
Hee-Jeong Jin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Association of IL-17A and IL-17F single nucleotide polymorphisms with susceptibility to osteoarthritis in a Korean population

Gene ◽  
2014 ◽  
Vol 533 (1) ◽  
pp. 119-122 ◽  
Author(s):  
Lin Han ◽  
Hwa Sung Lee ◽  
Jung Hwan Yoon ◽  
Won Suk Choi ◽  
Yong Gyu Park ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Korean Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide
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