ABSTRACT
AIMS AND BACKGROUND: The incidence rate of colorectal cancer (CRC) increases every year in Korean populations. However, association between the GNAS mutation and colorectal precancerous lesions has not been studied in in Korean populations. To contribute to better understanding of colorectal carcinogenesis, we analyzed GNAS mutation in 100 cancerous and 96 precancerous colorectal lesions. METHODS: The records of colonoscopic polypectomy performed at Dongsan Medical Center between 1999 and 2003 were reviewed retrospectively. Precancerous lesions included 7 villous adenomas, 59 tubular adenomas, and 18 sessile serrated adenomas, and 12 hyperplastic polyps. Keimyung Human Bio-Resource Bank at Dongsan Medical Center provided 100 CRC samples. RESULTS: GNAS mutation was not found in any colorectal cancer or any precancerous colorectal lesions, including villous adenoma, which is thought to harbor the mutation. CONCLUSIONS: The role of GNAS mutation might be limited in colorectal neoplasms of the Korean population.
Subject(s)
Carcinogenesis/genetics , Carcinogenesis/pathology , Chromogranins/genetics , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , GTP-Binding Protein alpha Subunits, Gs/genetics , Mutation/genetics , Adenoma/genetics , Adenoma/pathology , Humans , Hyperplasia/genetics , Hyperplasia/pathology , Intestinal Polyps/genetics , Intestinal Polyps/pathology , Precancerous Conditions/genetics , Precancerous Conditions/pathology , Retrospective StudiesABSTRACT
The thyroid hormone responsive protein (THRSP) gene is a functional gene that can be used to indicate the fatty acid compositions. This study investigates the relationships of exonic single nucleotide polymorphisms (SNPs) in the THRSP gene and fatty acid composition of muscle fat and marbling score in the 612 Korean cattle. The relationships between fatty acid composition and eight SNPs in the THRSP gene (g.78 G>A, g.173 C>T, g.184 C>T, g.190 C>A, g.194 C>T, g.277 C>G, g.283 T>G and g.290 T>G) were investigated, and according to the results, two SNPs (g.78 G>A and g.184 C>T) in exon 1 were associated with fatty acid composition. The GG and CC genotypes of g.78 G>A and g.184 C>T had higher unsaturated fatty acid (UFA) and monounsaturated fatty acid (MUFA) content (p<0.05). In addition, the ht1*ht1 group (Val/Ala haplotype) in a linkage disequilibrium increased MUFAs and marbling scores for carcass traits (p<0.05). As a result, g.78 G>A and g.184 C>T had significantly relationships with UFAs and MUFAs. Two SNPs in the THRSP gene affected fatty acid composition, suggesting that GG and CC genotypes and the ht1*ht1 group (Val/Ala haplotype) can be markers to genetically improve the quality and flavor of beef.
ABSTRACT
The lipoprotein lipase (LPL) gene can be considered a functional candidate gene that regulates fatty acid composition. In this study, genetic associations between fatty acid composition and exonic single nucleotide polymorphisms (SNPs) in the LPL gene were examined using 612 Korean cattle. We investigated the relationship between unsaturated fatty acids and five novel SNPs (c.322G>A, c.329A>T, c.527T>G, c.988C>T and c.1591G>A), and confirmed that three polymorphic SNPs (c.322G>A, c.329A>T and c.1591G>A) were associated with fatty acid composition. Korean cattle with an AA genotype of c.322G>A, c.329A>T, and GA genotype of c.1591G>A had higher levels of monounsaturated fatty acids and carcass traits (P < 0.05). Our findings confirmed that three novel SNPs we identified in the LPL gene can affect fatty acid composition and carcass traits. Therefore, selection for AA and GA genotypes should be recommended to genetically improve beef quality and flavor.
Subject(s)
Fatty Acids/genetics , Genetic Association Studies , Lipoprotein Lipase/genetics , Meat , Animals , Cattle , Exons , Fatty Acids/chemistry , Genotype , Phenotype , Polymorphism, Single NucleotideABSTRACT
The sterol regulatory element binding factor 1 (SREBP1) gene plays an important role in the biosynthesis of fatty acids. The aim of this study was to investigate the association between SNPs within SREBP1 gene and fatty acid composition of muscle fat and marbling score in a commercial population of Korean cattle. Among 10 SNPs in dbSNP of bovine SREBP1 gene, we identified 7 polymorphic SNPs and 84-bp ins/del variation (SREBP1-INT5 SNP) in commercial Korean cattle (n = 513). The SREBP1-9 SNP showed a significant effect on marbling score, monounsaturated fatty acids and C18:1n-9 in the muscle fat of commercial Korean cattle. However, SREBP1-INT5 SNP showed no effect on any fatty acid composition. Therefore, two polymorphisms in SREBP1 may improve flavored beef and meat quality in commercial Korean cattle.
Subject(s)
Fatty Acids/chemistry , Meat/standards , Polymorphism, Single Nucleotide , Sterol Regulatory Element Binding Protein 1/genetics , Alleles , Animals , Cattle , Gene Frequency , Gene Order , Genotype , Linkage Disequilibrium , Sterol Regulatory Element Binding Protein 1/metabolismABSTRACT
Genetic associations of fatty acid composition with exonic single nucleotide polymorphisms (SNPs) in the gene encoding fatty acid synthase (FASN) were examined using 513 Korean cattle. All five individual SNPs of g.12870 T>C, g.13126 T>C, g.15532 C>A, g.16907 T>C and g.17924 G>A were associated with a variety of fatty acid compositions and further with marbling score (P < 0.05). Their genotypes of CC, TT, AA, TT, and GG were associated with increased monounsaturated fatty acids and with decreased saturated fatty acids (P < 0.05). The genotypes at all the SNPs also increased marbling score (P < 0.05). Further genetic associations with fatty acid composition suggested that homozygous genotype with the haplotype of ATG at g.15532, g.16907, and g.17924 in a linkage disequilibrium block increased monounsaturated fatty acids and marbling score (P < 0.05). We concluded that the five exonic SNPs of g.12870, g.13126, g.15532, g.16907, and g.17924 in the FASN gene could change fatty acid contents. Their genotypes of CC, TT, AA, TT, and GG and haplotype of ATG at g.15532, g.16907, and g.17924 were recommended for genetic improvement of beef quality.
Subject(s)
Cattle/genetics , Exons/genetics , Fatty Acid Synthases/genetics , Fatty Acids/metabolism , Meat/analysis , Nucleotides/genetics , Polymorphism, Single Nucleotide/genetics , Adiposity/genetics , Animals , Female , Gene Frequency/genetics , Genetic Association Studies , Haplotypes/genetics , Linkage Disequilibrium/genetics , Muscles/metabolism , Phenotype , Republic of KoreaABSTRACT
In this study, we investigated the relationship between unsaturated fatty acids influencing beef flavor and four types of SNPs (c.280A>G, c.388G>A, c.408G>C and c.456A>G) located at exon 2, 3 and 4 of the FABP4 gene, which is a fatty acid binding protein 4 in Korean cattle (n = 513). When analyzing the relationship between single genotype, fatty acids and carcass trait, individuals of GG, GG, CC and GG genotypes that are homozygotes, had a higher content of unsaturated fatty acids and marbling scores than other genotypes (p<0.05). Then, haplotype block showed strong significant relationships not only with unsaturated fatty acids (54.73%), but also with marbling scores (5.82) in ht1×ht1 group (p<0.05). This ht1×ht1 group showed significant differences with unsaturated fatty acids and marbling scores that affected beef flavor in Korean cattle. Therefore, it can be inferred that the ht1×ht1 types might be valuable new markers for use in the improvement of Korean cattle.
