Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population.

Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Research Abstract Details 

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Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Abstract Text:

Hye-Ja Lee,Kwang-Joong Kim,Mi-Hyun Park,Kuchan Kimm,Chan Park,Bermseok Oh,Jong-Young Lee,

OBJECTIVE: We investigated sequence variations of the 29-kb insulin-like growth factor 2 (IGF2) region in human chromosome region 11p15.5 in the Korean population. This region consists of IGF2, insulin-like growth factor 2 antisense (IGF2AS), and the insulin gene, all important candidate genes for various diseases, including cancer, obesity, diabetes, and coronary disease. While single nucleotide polymorphisms (SNPs) have been identified for this region and used in association studies, ethnic differences in genetic variation at this site have not been addressed. To date, SNPs for the entire 29-kb region in the Korean population have not been reported. METHODS: We surveyed a population of 108 Koreans for SNPs in the 29-kb IGF2 region. RESULTS: We identified 62 SNPs, consisting of 6 SNPs in the promoter region, 17 in the untranslated region, 19 in introns, and 20 in the intergenic region. We also analyzed linkage disequilibrium (LD) patterns and haplotypes using 36 high-frequency (> 5%)SNPs and found a well-defined LD block spanning about 13 kb that includes 8 kb of the IGF2AS gene, with two hot-spot regions flanking the LD block. CONCLUSION: These SNPs may be useful as genetic markers in disease association studies in the Korean population.

Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Publishing Authors By Initials

HJ Lee,KJ Kim,MH Park,K Kimm,C Park,B Oh,JY Lee,

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Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human heredity

VOLUME: 60

Page Numbers: 73-80

Journal Abbreviation: Hum. Hered.

ISSN: 0001-5652

DAY: 13

MONTH: 09

YEAR: 2005

Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Information

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LANGUAGE: eng

NlmUniqueID: 200525

Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Keywords Mesh Terms:

KEYWORDS: Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population. Information

Substance Name: Proteins

Registry Number: 0

Grant and Affiliation Information for Single-nucleotide polymorphisms and haplotype LD analysis of the 29-kb IGF2 region on chromosome 11p15.5 in the Korean population.

AFFILIATION: Division of Structural and Functional Genome Research, National Genome Research Institute, NIH Korea, Seoul, Korea.

Country: Switzerland

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MEDLINETA: Hum Hered

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