• IMMUNE NETWORK
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• 제2권2호
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• pp.86-90
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• 2002

Background: Host genetic polymorphisms in the HIV-1 co-receptor CCR5 and CCR2b and SDF-1, ligand for co-receptor CXCR4, have been known to be associated with the resistance of HIV infection and/or the delayed disease progression in HIV-infected patients. Methods: We examined the frequencies of SDF1-3'A and CCR2b-64I alleles of 354 Koreans including 100 HIV-uninfected persons, 13 discordant spouses of HIV-infected persons, and 241 HIV-infected persons. The genotyping assays of SDF1 and CCR2b genes were carried out by polymerase chain reaction-restriction fragment length polymorphism. Results: The frequencies of CCR2b-64I and SDF1-3'A alleles in Koreans were very high compared with Caucasians and blacks. Observed frequencies of CCR2b-64I and SDF1-3'A allelic variants were 25.1% and 28.7%, respectively. The frequency of the CCR2b-64I allele in Koreans was 2~4 times higher than those of other ethnic groups with the exception of Asian. The frequencies of CCR2b-64I and SDF1-3'A genotypes did not show the significant difference between HIV-infected and uninfected Koreans. However, the prevalence of CCR2b-64I genotype of the LTNP group was about two times higher than that of the remainder group (P< 0.05). Four (45%) out of 9 LTNPs (long-term nonprogressors) showed having the SDF1-3'A allele and 7 (78%) out of 9 LTNPs carried the CCR2b-64I allele. 3 (33%) out of 9 LTNPs had both SDF1-3'A and CCR2b-64I alleles. But none of 5 RPs (rapid progressors) appeared to have both SDF1-3'A and CCR2b-64I alleles. Conclusion: The different genetic backgrounds in study populations may affect the disease progression and the AIDS epidemic in each country. Further studies need to define whether high frequencies of CCR2b-64I and SDF1-3'A allelic variants may affect the HIV disease progression.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6505-6510
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• 2012

Background: CYP2E1 encodes an enzyme which is mainly involved in bioactivation of potential carcinogens such as N-nitrosamines. Polymorphisms in the gene have been reported to be associated with cancer. The aim of this study was to evaluate genotype distributions and allele frequencies of five CYP2E1 polymorphisms in Iran Materials and Methods: Two hundred healthy individuals of an Iranian population from the southwest were included in this study. PCR-restriction fragment length polymorphism and Tetra-ARMS PCR methods were applied for CYP2E1 genotyping. Results: The allele frequencies for $^*5B$, $^*6$, $^*7B$, $^*2$, and $^*3$ were calculated to be 1.5%, 16%, 28.5%, 0%, and 2.75% respectively. Results of this study showed that no significant differences in genotype and allele frequencies of five single nucleotide polymorphisms with respect to the gender and tribes. The chi-square test showed that the genotype frequencies of $CYP2E1^*5B$ were similar to Caucasians, but the distribution of $CYP2E1^*6$ genotypes was similar to Asians. The frequencies of $CYP2E1^*2$ (0%) and $CYP2E1^*3$ (2.75%) alleles were within the range for Caucasians and Orientals. In the case of $CYP2E1^*7B$, the data werelimited. Accordingly, the results were only compared with Europeans and the comparison showed significant differences. Conclusions: In conclusion, ethnic and geographic differences may explain discrepancies in the prevalence of CYP2E1 polymorphisms.

• Asian-Australasian Journal of Animal Sciences
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• 제19권7호
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• pp.927-930
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• 2006

This study was conducted to investigate potential effects of previously identified QTL regions on carcass traits in Hanwoo. The data analyzed in this study was collected from 326 steers of 67 proven sire. Thirteen micorsatellite markers spanning QTL regions on bovine chromosomes 1 and 14 were genotyped in 326 steers. The following breeding values were analyzed for QTL effects. Cold carcass weight breeding value (CCWBV), longissimus muscle area breeding value (LMABV), marbling score breeding value (MSBV) and backfat thickness breeding value (BFTBV). Chi-square tests were performed to compare frequencies of individual allele between high and low breeding value groups. Significant differences of allele frequencies in BMS711, MCM130, BMS4049, and BMS2263 were found. And also, in RM180, BL1029, BM4305, and BMS2055 there were significant differencies of allele frequencies. These results showed a potential application for investigation of putative QTL locations.

• Asian-Australasian Journal of Animal Sciences
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• 제16권2호
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• pp.161-164
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• 2003

The polymorphism of the growth hormone gene in 12 pig breeds (total n=475) was detected by PCR-Apa I-RFLP, and allele A (449 bp, 101 bp and 55 bp) or allele B (316 bp, 133 bp, 101 bp and 55 bp) were observed. In these pig breeds, we found that European pig breeds had high frequencies of allele B, while Chinese native pig breeds had high frequencies of allele A. In addition, the role of porcine GH was investigated in 117 Nanchang White pigs and 361 Large Yorkshire pigs. Eight traits about growth and carcass were recorded for analyzing associations between GH gene polymorphism and performance quantitative traits. In the Nanchang White pigs, no significant difference was observed between different genotypes and different growth and carcass traits. In Large Yorkshire pigs, those with BB genotype had more lean percentage than pigs with AA genotype (p<0.05). Based on these results, we conclude that the GH locus should be further investigated in commercial breeds to determine its suitability for use in marker-assisted selection programmes.

• Toxicological Research
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• 제32권3호
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• pp.195-205
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• 2016

This study was performed to select single nucleotide polymorphisms (SNPs) related to the body burden of heavy metals in Koreans, to provide Korean allele frequencies of selected SNPs, and to assess the difference in allele frequencies with other ethnicities. The candidate-gene approach method and genome-wide association screening were used to select SNPs related to the body burden of heavy metals. Genotyping analysis of the final 192 SNPs selected was performed on 1,483 subjects using the VeraCode Goldengate assay. Allele frequencies differences and genetic differentiations between the Korean population and Chinese (CHB), Japanese (JPT), Caucasian (CEU), and African (YIR) populations were tested by Fisher's exact test and fixation index ($F_{ST}$), respectively. The Korean population was genetically similar to the CHB and JPT populations ($F_{ST}$ < 0.05, for all SNPs in both populations). However, a significant difference in the allele frequencies between the Korean and CEU and YIR populations were observed in 99 SNPs (60.7%) and 120 SNPs (73.6%), respectively. Ten (6.1%) and 26 (16.0%) SNPs had genetic differentiation ($F_{ST}$ > 0.05) among the Korean-CEU and Korean-YIR comparisons, respectively. The SNP with the largest $F_{ST}$ value between the Korean and African populations was cystathionine-${\beta}$-synthase rs234709 ($F_{ST}$: KOR-YIR, 0.309; KOR-CEU, 0.064). Our study suggests that interethnic differences exist in SNPs associated with heavy metals of Koreans, and it should be considered in future studies that address ethnic differences in heavy-metal concentrations in the body and genetic susceptibility to the body burden of heavy metals.

• 농업과학연구
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• 제22권1호
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• pp.69-81
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• 1995

본 연구는 축산기술연구소 대관령지원에서 사육하고 있는 Hereford, Angus 및 Charolais 육우품종에서 혈액을 채취하여 이들의 혈액내에 존재하는 transferrin(Tf), post-transferrin-2(pTf-2), albumin(Alb), post-albumin(pAlb), ceruloplasrmin(Cp), amylase-I(Am-I) 및 hemoglobin(Hb)의 혈액단백질 및 효소좌위의 유전적다형을 분석하여 이들 집단의 유전적 변이체를 조사하고자 PAGE(polyacrylamide gel electrophoresis)와 STAGE(starch gel electrophoresis)방법으로 분석하였던바 그 결과는 다음과 같다. 1. Tf좌위는 A, $D_1$, $D_2$ 및 E와 pTf-2좌위는 F와 S의 공우성 대립유전자의 지배를 받는 것으로 생각되며, 유전자형의 빈도에 있어서는 Hereford 종에서는 Tf $D_1D_2$와 pTf-2 SS 형이 각각 25 및 90%이었고, Angus종에서는 Tf $AD_1$와 pTf-2 FF형이 각각 25와 100%이었으며, Sharolais종에서는 Tf $D_1D_1$와 pTf-2 FS형이 각각 50%로 높은 빈도를 보였다. 유전자빈도에 있어서는 Hereford종에서 Tf E와 pTf-2 S 빈도가 각각 0.400과 0.900이었고, Sharolais종에서는 Tf $D_1$과 pTf-2 S가 각각 0.678 및 0.607로 높은 빈도를 보였다. 2. Alb좌위는 A, 그리고 pAlb좌위는 F와 S의 대립유전자의 지배를 받는것으로 사료되며, 유전자형 빈도에 있어서는 Hereford, Angus와 Sharolais종에서 각각 pAlb SS, FF 및 SS가 각각 70, 90 및 57.15%로 높은 빈도를 나타냈으며, pAlb의 유전자 빈도에 있어서는 Hereford와 Sharolais종에서 pAlb S가 각각 0.825와 0.750이었고, Angus종에서는 pAlb F가 0.900으로 높은 빈도를 보였다. 3. Cp 좌위는 F 및 S와 Am-I 좌위는 B와 C의 대립유전자의 지배를 받는 것으로 생각되며, 유전자형 빈도에 있어서는 Herford종에서는 Cp FF와 Am-I BB형의 빈도가 각각 100 및 85%이었고, Angus종에서는 Cp FF와 Am-I CC형이 각각 45 및 85%이였으며, Sharolais종에서는 Cp FF와 Am-I BC형이 각각 50 및 64.29%로 높은 빈도를 보였다. 유전자 빈도에서 있어서는 Herford, Angus와 Sharolais 종에서 Cp F가 각각 0.800, .875 및 0.680이었고 Hereford종에서 Am-I A가 0.800이었으며, Angus와 Sharolais종에서 Am-I C가 각각 0.875 및 0.680이었다. 4. Hb좌위 는 Hereford종과 Angus종에서는 Hb A, Sharol ais종에서는 Hb A와 B의 대립유선자가 검출 되었으며, Sharolais종에서 유전자형 빈도는 Hb AA 및 AB가 각각 57.14 및 42.88%이었고, 유전자빈도에 있아서는 Hb A와 B가 각각 0.785 및 0.215이었다.

• Journal of Nutrition and Health
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• 제41권8호
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• pp.767-775
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• 2008

1) 연구대상자 중 비만아동 빈도수 분석 결과, BIA법에서는 70.0%, BMI에 의한 비만도에서는 32.7%, 신장별 체중에 의한 비만도에서는 23.6%로 BAI법에 의해 비만아동의 빈도수가 가장 많았다. 혈청 생화화적 분석 결과는 NCEP의 이상지혈증 기준 이하로 나타났다. 2) UCP-1 유전자 다형성에 의한 신체계측의 결과의 분포는 정상형과 변이형에서 차이를 나타내지 않았고 혈중 생 화학 결과에서는 LDL (p = 0.039)과 TC (p = 0.063)이 정상형에 비해 변이형에서 유의적으로 증가하였다. 3) LDL을 130 mg/dL 기준으로 고LDL 콜레스테롤혈증과 정상으로 나누었을 때 각각에서 UCP-1 유전자 다형성의 분포는 고LDL 콜레스테롤혈증에서 A allele는 5.4%, G allele는 13.0%로 G allele의 빈도가 높게 분포하였고, 정상에서는 각각 94.6%, 87%의 분포를 나타내었다 (p = 0.062, ORs 2.640). LDL의 농도를 백분위수에 따라 4집단으로 나누고 UCP-1 유전자의 A allele와 G allele에서 LDL 농도의 빈도수를 나타내었을 때 G allele에서는 빈도수가 25th, 50th, 75th, 100th에 따라 유의적으로 증가하였다 ($r^2$ = 0.7995, p-trend = 0.032). 따라서 UCP-1 유전자 변이형은 정상형에 비해 고LDL-콜레스테롤혈증의 발병을 증가시키는 것으로 나타났다. UCP-1 유전자의 다형성은 이상지혈증의 위험인자인 LDL 농도를 증가시키는 위험요인으로써 나타났고, 체중을 감안할 때는 이상지혈증의 위험도가 더욱 증가할 것으로 생각되어진다. 따라서 UCP-1 유전자 변이형을 가지는 비만아동은 고LDL-콜레스테롤혈증의 발병과 관련된 식이 및 환경적 인자를 적절히 통제하는 예방 대책을 마련하여야겠다.

• Journal of Nutrition and Health
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• 제49권4호
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• pp.223-232
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• 2016

Purpose: We investigated the potential interaction between the G-protein beta-3 subunit gene (GNB3) C825T polymorphism, a risk factor for chronic disease in various ethnicities, and obesogenic environments in overweight/obese Korean children. Methods: The present study was conducted as a cross-sectional study using measures of anthropometry, blood pressure (BP), and fasting blood samples as well as 3-day food records. Subjects were recruited from seven elementary schools in an urban district in Seoul, South Korea, between 2007 and 2008. A total of 1,260 children aged 8-9 years were recruited in the study, including 633 boys (50.3%) and 627 girls (49.7%). Results: The allele frequencies of the GNB3 polymorphism were C allele = 49.7% and T allele = 50.3% in subjects. In general, boys with T allele had higher BMI, systolic BP (SBP), and triglycerides, although their energy intake was not significantly different from boys with C allele. In contrast to boys, girls with T allele had lower BMI but higher SBP and energy intake than those with C allele. The girls with T allele had a significantly lower BMI and waist circumference in both the normal weight group and obese group (OB). T allele carriers in both genders had significantly higher TC than C allele carriers in the OB group. At last, girls with T allele in OB appeared to have significantly lower HOMA-IR than those with C allele. Conclusion: Unlike higher risk for negative health outcomes by the GNB3 polymorphism in various ethnicities, GNB3 polymorphism did not influence obesogenic environments in overweight/obese Korean children.

• Animal cells and systems
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• 제1권1호
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• pp.123-128
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• 1997

The characteristics of allelic polymorphisms of the two (CA)n microsatellite (p599 and ㅅ599) markers spanning the long arm of chromosome 5 were studied in 52 DNA samples from unrelated inhabitants of Seoul (Korea) by using the polymerase chain reaction (PCR) to investigate differences in allele frequencies between Korean and Caucasian populations. The 6 alleles were observed for p599 (CA)n with a polymorphism informative content (PIC) value of 0.71 and 9 alleles for ㅅ599 (CA)n with a PIC value of 0.82. The observed heterozygote frequencies of the loci were estimated to 0.730 and 0.846, respectively. Several allele frequencies of two loci showed significant differences between Korean and Caucasian populations. Genotype data from the two loci were consistent with the Hardy-Weinberg equilibrium by x2 test. Linkage disequilibrium between p599 (CA)n and ㅅ599 (CA)n loci was observed in x2 test between the observed and expected frequency of allelic association. The probability of matching calculated at each locus was 0.104 for p599 (CA)n and 0.043 for ㅅ599 (CA)n, respectively. These results demonstrate the need to determine populationspecific allele frequency distributions for polymorphic markers when performing genetic linkage studies in racially defined several populations.

• 한국수정란이식학회지
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• 제30권2호
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• pp.91-97
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• 2015

Amphiregulin (AREG), a glycoprotein that is a member of the epidermal growth factor (EGF) family, is expressed by the porcine conceptus and endometrium. AREG genotypes were determined based on an SNP in the intron 3 of the gene. Contradictory effects of AREG genotypes on reproductive traits in different pig breeds were reported previously. G allele had undesirable effect on reproductive trait in Meishan breed, while it had favorable effects in Polish Landrace and Large White. We determined AREG genotypes of 179 pigs including the Duroc, Landrace, Yorkshire, Korean native pig (KNP), and Meishan breeds. Two new SNPs were identified near the previously reported SNP in the intron 3 of AREG. Frequencies of AREG alleles among the Duroc, Landrace, Yorkshire, and KNP sows were significantly different (p<0.001), indicating association between AREG genotypes and pig breeds. The first parity litter size was significantly affected by the breeds (p=0.014), but not by AREG genotypes (p=0.148). However, there were breed and AREG genotype associated trends in the first parity litter size. The first parity litter size appeared to be higher in Duroc and KNP sows with G allele, while it appeared to be lower in Landrace sows with G allele. Significant variability of AREG alleles among pig breeds, for the first time in Duroc and KNP sows, was identified. AREG genotypes may influence reproductive traits differentially for each breed and thus, AREG genotypes may need to be considered when sows are bred to increase litter size.