• 농업과학연구
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• 제37권2호
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• pp.231-238
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• 2010

There is no investigation has yet been conducted for ACOX1 and CSRP3 gene polymorphisms in Korean cattle (Hanwoo), and their associations with carcass and meat quality traits. In this study, SNPs in ACOX1 and CSRP3 genes were identified and their associations with carcass and meat quality traits were investigated in 227 Hanwoo animals. Two SNPs (g.224G> A and g.19491G>A) in ACOX1 gene and one SNP (g.14859C>T) in CSRP3 gene were identified in Hanwoo and sequence analysis indicated that these SNPs were located in the coding regions. The allele frequencies of ACOX1 g.224G>A and g.19491G>A SNPs were 0.57, 0.43, and 0.56 and 0.44, respectively, For CSRP3 g.14859C>T polymorphism, the C and T allele frequencies were 0.64 and 0.36, respectively. The Hanwoo cattle were used to detect PCR-RFLP patterns for estimating the allele frequencies. Single marker association analyses were performed between genotype of each SNP, and carcass and meat quality association traits to evaluate the relationships in Hanwoo. The g.224G>A SNP genotypes of ACOX1 gene, which was significantly associated with meat quantity grade at slaughter (P<0.03) and backfat thickness tended to be greater (P=0.06) in Hanwoo. The previously identified g.14859C>T SNP was used in this study and the obtained genotype and allele frequencies are almost similar with the previous results reported by Bhuiyan et al. (2007). However, no significant association was found between g.19491G>A SNP in the ACOX1 and g.14859C>T SNP genotypes of CSRP3 gene and considered carcass and meat quality traits. In conclusion, the information on the identified SNPs in CSRP3 and ACOX1 genes could be useful for further association study and haplotype analysis for the development of carcass and meat quality traits in Hanwoo.

• Genomics & Informatics
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• 제6권3호
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• pp.110-116
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• 2008

Blood pressure refers to the force exerted by circulating blood on the walls of blood vessels, and chronical elevation of blood pressure is known as hypertension. Although hypertension is affected by genetic and environmental factors, the genetic background of hypertension is not fully understood. One of the candidate genetic factors, Prostaglandin-endoperoxide synthase 2 (PTGS2), is a membrane-bound enzyme, catalyzing the conversion of arachidonic acid to prostaglandin, and recently SNPs of PTGS2 gene was associated with hypertension in Japanese population. Therefore the association of PTGS2 polymorphisms was investigated with blood pressure in healthy Korean subjects, 470 unrelated individuals randomly selected from Ansung and Ansan cohorts. The 25 SNPs of PTGS2 gene were identified by the sequencing analysis of 24 Korean samples. Among identified polymorphisms, three SNPs (rs689466, -1329A>G; rs5275, +6365T>C; rs4648308, +8806G> A) were selected for further association analysis, and rs689466 located in promoter region was associated with blood pressure as well as triglyceride level in the blood. By in silico analysis, rs689466 locates in v-Myb transcription factor binding site, and the v-Myb site disappears when the SNP is changed from A to G nucleotide. Individuals with A/G and G/G genotype in rs689466 have higher blood pressure than those with A/A genotype, and the regression p-value is 0.008 for systolic and 0.004 for diastolic blood pressure. In summary, the PTGS2 polymorphism (rs689466) is associated with blood pressure in Asian populations based on this and Japanese studies, shedding light on it as a genetic risk marker of hypertension.

• Toxicological Research
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• 제17권
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• pp.145-155
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• 2001

Cytochrome P4502C19 (CYP2C19) is one of human polymorphic xenobiotic-metabolizing enzymes. The enzyme has been reported to catalyze more than 70 substrates, involving more than 100 reactions. These include several classes of therapeutic agents (e.g. anti-microbial. cardiovascular, psycho-active, etc.), sex hormones and insecticides. Associations of the CYP2C19 genotype/phenotype with individual differences in drug efficacy (e.g. diazepam, omeprazole, proguanil) and toxicity (e.g. mephenytoin, barbiturates) have been documented by many investigators. At least 11 allelic variants of CYP2C19 gene were reported to date. Most of the mutant alleles found in the poor metabolizer (PM) led to the production of truncated and/or inactive proteins. Except for the exon 6, single-nucleotide mutations were reported in all nine exons of the gene. Genetic polymorphism of CYP2C19 shows marked interethnic variation with the population frequencies of PM phenotype ranging from 1∼2% up to more than 50%. The prevalence of CYP2C19 PM tends to be higher in Asian and certain Pacific Islanders than other race or ethnic specificity. Genotyping results of CYP2C19 also revealed that there are different proportions of individual mutant alleles among ethnic populations. This may, in part, explains the interethnic difference in the metabolism of certain drugs (i.e. diazepam), though they were from the same CYP2C19 phenotype. Recently, our research group has studied the genotype and phenotype of CYP2C19 and found that the PM frequency (7∼8%) in Thais is lower than other Asian populations. Molecular and clinical impacts of this finding warrant to further investigation.

• 생명과학회지
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• 제21권1호
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• pp.155-158
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• 2011

Uncoupling protein (UCP) 3 유전자는 갈색지방세포의 미토콘드리아 내막에 존재하며 탈공역 산소(uncoupling oxygen)를 통해 ATP를 생산하는 것으로 알려져 있다. 이는 세포 내의 과다 에너지를 열로 발산시키는 기능을 하고 있다. 본 연구는 돼지의 UCP 3 유전자 내 missense mutation의 유전자형을 조사하고 경제형질과의 연관성을 분석하기 위하여 실시하였다. 돼지의 UCP3 유전자의 염기서열 분석을 통해 1405 bp 지역에서(accession number: AY739704) G염기가 A염기로 치환되는 변이를 확인하였다. 확인된 변이지역은 G가 A로 치환됨으로 인해 150번째 아미노산 서열이 glycine (GGG)에서 arginine (AGG)으로 바뀌는 missense mutation임을 확인하였다. 각 유전자형의 빈도는 0.164(GG), 0.587(GR) 그리고 0.249(RR)로 확인되었으며, 각 대립유전자의 빈도는 0.458(G)과 0.542(R)로 확인되었다. 돼지 UCP3의 G150R 유전자형과 경제형질 간의 연관성을 분석한 결과 등지방두께에 있어 유의적인 연관성이 검출되고 일당증체량과 90 kg 도달일령에서는 유의적인 값이 검출되지 않았다.

• Clinical and Experimental Reproductive Medicine
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• 제41권3호
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• pp.120-124
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• 2014

Objective: The aim of the present study was to examine whether interactions between polymorphisms in the thyroglobulin and ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16) genes are associated with the development of premature ovarian failure (POF). Methods: A total of 75 patients with POF and 196 controls were involved in this study. We used a GoldenGate assay to genotype single nucleotide polymorphisms (SNPs). Logistic regression analysis was performed to identify POF-associated polymorphisms and synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes. Results: Single gene analyses using logistic regression analysis showed no significant association between polymorphisms in the two genes and POF. In the results from interaction analyses, we found seven synergistic interactions between the polymorphisms in thyroglobulin and ADAMTS16, although there was no combination showing p-values lower than the significant threshold using the Bonferroni correction. When the AG genotype was present at the rs853326 missense SNP, the A and G alleles at the tagging SNPs rs16875268 and rs13168665 showed significant interactions (odds ratios=5.318 and 16.2 respectively; 95% confidence intervals, 1.64-17.28 and 2.08-126.4; p=0.0054 and 0.0079). Conclusion: Synergistic interactions between polymorphisms in the thyroglobulin and ADAMTS16 genes were associated with an increased risk of POF development in Korean women.

• Asian Pacific Journal of Cancer Prevention
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• 제13권10호
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• pp.4909-4914
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• 2012

Objective: The aim of this Human Genome Epidemiology (HuGE) review and meta-analysis was to derive a more precise estimation of the association between p53 codon 72 polymorphism (Arg72Pro, rs1042522 G>C) and cervical cancer risk among Asians. Methods: A literature search of Pubmed, Embase, Web of Science and CBM databases from inception through June 2012 was conducted. The meta-analysis was performed using STATA 12.0 software. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Twenty-eight case-control studies were included with a total of 3,580 cervical cancer cases and 3,827 healthy controls. When all the eligible studies were pooled into the meta-analysis, the results showed that the Pro/Pro genotype was associated with increased risk of cervical cancer under the heterozygous model (Pro/Pro vs. Arg/Pro: OR = 1.25, 95%CI: 1.02-1.53, P= 0.005). However, no statistically significant associations were found under four other genetic models (Pro vs. Arg: OR = 0.97, 95%CI: 0.85-1.10, P= 0.624; Pro/Pro + Arg/Pro vs. Arg/Arg: OR = 0.84, 95%CI: 0.70-1.01, P= 0.058; Pro/Pro vs. Arg/Arg + Arg/Pro: OR = 1.13, 95%CI: 0.92-1.39, P= 0.242; Pro/Pro vs. Arg/Arg: OR = 0.97, 95%CI: 0.76-1.22, P= 0.765; respectively). In the subgroup analysis based on country, the Pro/Pro genotype and Pro carrier showed significant associations with increased risk of cervical cancer among Indian populations, but not among Chinese, Japanese and Korean populations. Conclusion: Results from the current meta-analysis suggests that p53 codon 72 polymorphism might be associated with increased risk of cervical cancer, especially among Indians.

• 한국축산식품학회지
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• 제32권6호
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• pp.776-782
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• 2012

Marbling (intramuscular fat) is the most economically important meat quality trait in Hanwoo (Korean cattle). The endothelial differentiation G-protein coupled receptor 1 (EDG1) gene, involved in blood vessel formation, is located within the genomic region of a quantitative trait locus (QTL) for marbling on bovine chromosome 3. Thus, the EDG1 gene can be considered as a positional and functional candidate gene for meat quality in beef cattle. This study aimed to identify single nucleotide polymorphisms (SNPs) in the EDG1 gene and to evaluate their associations with carcass traits in Hanwoo population. We have sequenced a fragment of 5'-UTR of the EDG1 gene and identified one SNP. Genotyping of the g.166A>G SNP marker was carried out using PCR-RFLP analysis in 309 Hanwoo steers in order to evaluate their association with carcass traits. The g.166A>G SNP marker showed a significant effect on the marbling score. Animals with the GG genotype had higher marbling score compared with AA and AG genotypes (p<0.05). This SNP marker also showed a significant additive effects for the marbling score (p<0.05). These results suggest that the EDG1 gene can be used as a molecular marker for DNA marker-assisted selection in order to increase the levels of the marbling score in Hanwoo.

• Asian Pacific Journal of Cancer Prevention
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• 제14권1호
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• pp.299-302
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• 2013

Methylenetetrahydrofolate reductase (MTHFR) has been reported to be associated with DNA methylation, an epigenetic feature frequently found in gastric cancer. We conducted a case-control study to explore the association of MTHFR C677T polymorphisms with gastric cancer risk and its relation with the DNA methylation of COX-2, MGMT, and hMLH1 genes. Genotyping of P16, MGMT and HMLH1 was determined by methylation-specific PCR after sodium bisulfate modification of DNA, and genotyping of MTHFR C677T was conducted by TaqMan assays using the ABI Prism 7911HT Sequence Detection System. Folate intake was calculated with the aid of a questionnaire. Compared with the MTHFR 677CC genotype, the TT genotype was significantly associated with 2.08 fold risk of gastric cancer when adjusting for potential risk factors. Individuals who had an intake of folate above $310{\mu}g$/day showed protective effects against gastric cancer risk. The effect of MTHFR C677T polymorphisms on the risk of gastric cancer was modified by folate intake and methylation status of MGMT (P for interaction <0.05).

• Asian-Australasian Journal of Animal Sciences
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• 제17권10호
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• pp.1366-1368
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• 2004

The Mafriwal dairy cattle was developed to meet the demands of the Malaysian dairy Industry. Although there are reports on its production and reproductive performance, there has been no work on its molecular characterization. This study was conducted to characterize the Mafriwal dairy cattle using microsatellite markers. Fifty two microsatellite loci were analysed for forty Mafriwal dairy cows kept at Institut Haiwan Kluang, Malaysia. The study showed two microsatellite loci to be monomorphic. Allele frequencies for the polymorphic loci ranged from 0.01 to 0.31. Genotype frequencies ranged from 0.03 to 0.33. The mean overall heterozygosity was 0.79. All polymorphic microsatellite loci deviated significantly (p<0.01) from Hardy-Weinberg equilibrium. The Mafriwal dairy cattle showed high genetic variability despite being a nucleus herd and artificial insemination being practiced.

• 한국자원식물학회지
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• 제25권4호
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• pp.407-415
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• 2012

눈잣나무는 동북아시아가 주 분포지로 남한에서는 설악산 고산지역에만 제한적으로 분포한다. 본 연구는 설악산 눈잣나무 집단의 분포형태와 특성, 유전다양성 및 공간분포에 따른 유전구조를 파악하였다. 선발된 9개 I-SSR primer에서 총 78개 I-SSR 증폭산물을 얻었으며, 30개의 단형성 증폭산물을 제외한 48개의 증폭산물을 분석에 이용하였다. 조사구(40 m ${\times}$ 70 m)에는 눈잣나무 65개체가 자생하고 있었으며, 채집한 눈잣나무의 위치자료를 바탕으로 군집지수를 계산한 결과 약하게 집중분포(Aggregation Index = 0.871)하고 있음을 확인하였다. 모든 개체에 대하여 I-SSR 유전자형을 비교한 결과, 65개체 중 유전자형이 서로 다른 40개의 genet이 식별되었다. 유전자형 비율(G/N)은 61.5%, 유전자형 다양성(D)은 0.977, 유전자형 균등도(E)는 0.909로 각각 나타났다. Shannon의 다양성지수(I = 0.567)는 적은 개체수와 제한적 분포에도 불구하고 다른 수종들에 비해 비교적 높은 유전다양성을 나타났다. 공간적 자기상관 분석을 실시한 결과 조사지역 내의 눈잣나무 집단은 12 m 이내에서 유전적으로 유사한 군락구조를 갖고 있는 것으로 나타났다. Mantel 검정 결과 유전적 거리와 지리적 거리간에 낮은 상관관계를 나타내 눈잣나무 집단이 초기에 여러 개의 모수에서 형성된 것으로 추정되었다. 본 연구결과 설악산 눈잣나무 집단의 현지외 유전자 보존을 위한 표본추출 전략은 최소 12 m 이상의 거리를 두는 것이 효율적인 것으로 나타났다.