Identification of CYP19A1 single-nucleotide polymorphisms and their haplotype distributions in a Korean population. 2010

Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
Department of Pharmacology and Pharmacogenomics Research Center, Inje University College of Medicine, Inje University, Busan, South Korea. 2sujun@inje.ac.kr

Aromatase, encoded by the CYP19A1 gene, is a key enzyme in the biosynthesis of estrogen. In an effort to screen for CYP19A1 single-nucleotide polymorphisms (SNPs) in Koreans, the CYP19A1 gene was directly sequenced in 50 normal subjects. A total of 19 variations were identified: four in exons, ten in introns, six in the 5'-untranslated region (UTR) and one in 3'-UTR. The distribution of CYP19A1 (TTTA)(n) polymorphisms was such that the most frequent allele was (TTTA)(7) (66%), followed by (TTTA)(11) (30%), (TTTA)(12) (3%) and (TTTA)(13) (1%). The order of the frequency distribution of CYP19A1 variations, other than that of the (TTTA)(n) variant, was IVS6-106T>G and IVS7-79A>G (57%); 1531C>T (56%); IVS5-16T>G and IVS6+36A>T (54%); -196A>C and -77G>A (49%); IVS2-59A>G and 240A>G (48%); -278C>T (31%); IVS4+27TCTI>D (29%); -144C>T and -588G>A (19%); 790C>T (16%); and other minor alleles with less than 5% frequency. Nineteen variations were used to characterize linkage disequilibrium (LD) structures at the CYP19A1 locus, which resulted in three LD blocks. Eight tagging SNPs in CYP19A1 were determined. Identification of CYP19A1 SNPs with LD blocks and tagging SNPs creates an important resource for genotype-phenotype association studies for estrogen-related phenotypes.

UI MeSH Term Description Entries
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001141 Aromatase An enzyme that catalyzes the desaturation (aromatization) of the ring A of C19 androgens and converts them to C18 estrogens. In this process, the 19-methyl is removed. This enzyme is membrane-bound, located in the endoplasmic reticulum of estrogen-producing cells of ovaries, placenta, testes, adipose, and brain tissues. Aromatase is encoded by the CYP19 gene, and functions in complex with NADPH-FERRIHEMOPROTEIN REDUCTASE in the cytochrome P-450 system. CYP19,Cytochrome P-450 CYP19,Cytochrome P-450(AROM),Androstenedione Aromatase,CYP 19,CYP19 Protein,Cytochrome P450 19,Estrogen Synthase,Estrogen Synthetase,P450AROM,Aromatase, Androstenedione,Cytochrome P 450 CYP19,Protein, CYP19
D015810 Linkage Disequilibrium Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. Disequilibrium, Linkage,Disequilibriums, Linkage,Linkage Disequilibriums
D015894 Genome, Human The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs. Human Genome,Genomes, Human,Human Genomes
D016022 Case-Control Studies Comparisons that start with the identification of persons with the disease or outcome of interest and a control (comparison, referent) group without the disease or outcome of interest. The relationship of an attribute is examined by comparing both groups with regard to the frequency or levels of outcome over time. Case-Base Studies,Case-Comparison Studies,Case-Referent Studies,Matched Case-Control Studies,Nested Case-Control Studies,Case Control Studies,Case-Compeer Studies,Case-Referrent Studies,Case Base Studies,Case Comparison Studies,Case Control Study,Case Referent Studies,Case Referrent Studies,Case-Comparison Study,Case-Control Studies, Matched,Case-Control Studies, Nested,Case-Control Study,Case-Control Study, Matched,Case-Control Study, Nested,Case-Referent Study,Case-Referrent Study,Matched Case Control Studies,Matched Case-Control Study,Nested Case Control Studies,Nested Case-Control Study,Studies, Case Control,Studies, Case-Base,Studies, Case-Comparison,Studies, Case-Compeer,Studies, Case-Control,Studies, Case-Referent,Studies, Case-Referrent,Studies, Matched Case-Control,Studies, Nested Case-Control,Study, Case Control,Study, Case-Comparison,Study, Case-Control,Study, Case-Referent,Study, Case-Referrent,Study, Matched Case-Control,Study, Nested Case-Control
D044466 Asian People Persons having origins in any of the Asian racial groups of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. Note that OMB category ASIAN is available for United States population groups. Race and ethnicity terms, as used in the federal government, are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies. Asian Continental Ancestry Group,Asian Person,Asiatic Race,Mongoloid Race,Asian Peoples,Asian Persons,Asiatic Races,Mongoloid Races,People, Asian,Person, Asian,Race, Asiatic,Race, Mongoloid
D056910 Republic of Korea The capital is Seoul. The country, established September 9, 1948, is located on the southern part of the Korean Peninsula. Its northern border is shared with the Democratic People's Republic of Korea. Korea, Republic of,South Korea
D020641 Polymorphism, Single Nucleotide A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. SNPs,Single Nucleotide Polymorphism,Nucleotide Polymorphism, Single,Nucleotide Polymorphisms, Single,Polymorphisms, Single Nucleotide,Single Nucleotide Polymorphisms

Related Publications

Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
June 2003, Human mutation,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
May 2015, Journal of gastroenterology and hepatology,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
January 2003, Journal of human genetics,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
September 2004, Drug metabolism and disposition: the biological fate of chemicals,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
December 2006, Archives of pharmacal research,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
March 2005, American journal of human genetics,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
January 2003, Human heredity,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
December 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
December 2016, Psychiatry research,
Su-Jun Lee, and Woo-Young Kim, and Ji-Yeob Choi, and Sang Seop Lee, and Jae-Gook Shin
January 2015, Dermatology (Basel, Switzerland),
Copied contents to your clipboard!