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  • Title/Summary/Keyword: Genetic Association

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Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy (태아의 염색체의 수적 이상을 유발하는 모계 위험인자로서 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T)와 Methionine Synthase Reductase (MTRR A66G) 유전자의 다형성 연구)

  • Kim, Do-Jin;Kim, Shin-Young;Park, So-Yeon;Kim, Jin-Woo;Kim, Moon-Young;Han, Joung-Yeol;Yang, Jae-Hyug;Ahn, Hyun-Kyong;Choi, Jun-Seek;Chung, Jin-Hoon;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.119-124
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    • 2008
  • Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.

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Korean Children and Adolescents with Crohn's Disease Are More Likely to Present with Perianal Fistulizing Disease at Diagnosis Compared to Their European Counterparts

  • Kang, Ben;Kim, Jung Eun;Jung, Jae Hun;Choe, Jae Young;Kim, Mi Jin;Choe, Yon Ho;Kim, Seung;Koh, Hong;Lee, Yoo Min;Lee, Jee Hyun;Lee, Yoon;Lee, Ji-Hyuk;Lee, Hae Jeong;Jang, Hyo-Jeong;Choi, Youjin;Choi, So Yoon;Kim, Ju Young;Choe, Byung-Ho
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.1
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    • pp.49-62
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    • 2020
  • Purpose: We aimed to investigate the disease phenotype of Korean pediatric Crohn's disease (CD) patients at diagnosis according to the Paris classification by comparison with patients from the European multicenter 5-years recruitment of children with newly developed IBD (EUROKIDS registry). Methods: Korean children and adolescents who had been newly diagnosed with CD at the age of <18 years during 2013-2016 were included in this multicenter retrospective study. Disease phenotype at diagnosis was classified according to the Paris classification, and compared with the published data from the EUROKIDS study. Results: A total of 255 patients were included. The median diagnosis age was 14.7 years (range, 0.8-17.9 years). No significant difference was observed in male-to-female ratio with EUROKIDS (1.9:1 vs. 1.45:1, p=0.062). The proportion of children aged <10 years was significantly lower in Koreans (7.1% vs. 19.6%, p<0.001). Colonic disease was less prominent (10.0% vs. 27.3%, p<0.001), while upper GI involvement was more prominent in Korean children (59.3% vs. 46.2%, p<0.001). The proportion with perianal fistulizing disease at diagnosis was significantly higher in Korean patients (44.8% vs. 8.2%, p<0.001). A separate analysis of Korean patients revealed that perianal fistulizing disease at diagnosis was positively associated with male sex and body mass index z-score (odds ratio [OR]=2.12, 95% confidence interval [CI]=1.20-3.76, p=0.010; and OR=1.29, 95% CI=1.05-1.58, p=0.015, respectively). Conclusion: Approximately half of pediatric CD patients in Korea present with perianal fistulas and/or abscesses at diagnosis, which is a distinct feature of CD in Korean children and adolescents compared to their European counterparts. An underlying genetic difference between ethnicities may play a role in this expression of different phenotypes in pediatric CD.

The Effect of Follicle-Stimulating Hormone Receptor (FSHR) Polymorphism on Outcomes of Controlled Ovarian Hyperstimulation (COH) and In-vitro Fertilization and Embryo Transfer (IVF-ET) (체외수정시술시 난포자극호르몬 수용체 유전자 다형성이 과배란유도 및 임신 결과에 미치는 영향)

  • Yoon, Ji-Sung;Choi, Young-Min;Lim, Kyung-Sil;Hur, Chang-Young;Kang, Young-Je;Jung, Jae-Hoon;Lee, Won-Don;Lim, Jin-Ho;Hwang, Kyu-Ri;Jee, Byung-Chul;Ku, Seung-Yup;Suh, Chang-Suk;Kim, Seok-Hyun;Kim, Jung-Gu;Moon, Shin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.2
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    • pp.133-139
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    • 2004
  • Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups (6.0±0.3IU/L (mean ± SEM), 5.8±0.3IU/L, and 8.6±1.2IU/L for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups (8.6±0.8, 9.9±0.6, and 6.3±0.9, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.

Forest Vegetation Classification and Quantitative Analysis of Picea jezoensis and Abies hollophylla stand in Mt. Gyebang (계방산 가문비나무 및 전나무 임분의 산림식생유형분류와 정량적 분석)

  • Ko, Seung-Yeon;Han, Sang-Hak;Lee, Won-Hee;Han, Sim-Hee;Shin, Hak-Sub;Yun, Chung-Weon
    • Korean Journal of Environment and Ecology
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    • v.28 no.2
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    • pp.182-196
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    • 2014
  • In this study, for the forest vegetation classification and the quantitative analysis of the Picea jezoensis and Abies hollophylla stand, the type classification of the vegetation structure was performed with Z-M phytosociological method, and as a result, it was classified into the Picea jenoensis community and the Abies holophylla community in the community unity. The Picea jezoensis community was subdivided into the Rosa koreana group and the Acer ukurunduense group in the group unity and the Abies holophylla community was subdivided into the Acer mandshuricum group and the Lindera obtusiloba group. In the results of estimating the importance value based on the classified vegetation unity, it was deemed that the dominance of the Picea jezoensis would be continued for a while as the importance value from the tree layers of vegetation unity 1 and 2 represented relatively high with 30.73% and 20.25%. In addition, in the results of analyzing the species diversity to estimate the maturity of the community, the species diversity index of the vegetation unity 4 was the lowest with 0.6976 and that of vegetation unity 2 was the highest with 1.1256. As in the similarity between the communities, the vegetation unit 1 and 4 and the vegetation unit 2 and 4 represented low with 0.2880 and 0.3626, respectively, and the similarity between the vegetation unit 1 and 2 and between 2 and 4 represented 0.5411 and 0.5041, respectively, it was deemed that they were the communities that the difference in the composition species between the communities was not big. In the results of analyzing the Chi-square matrix and the catalog of constellations for the interspecific, they were divided mainly into two types, and type 1 plant species were mostly differential species and the characteristic species, which appeared in the Picea jezoensis community classified phytosociologically, and type II plant species were mostly the species appearing in the Abies holophylla community growing in the relatively damp places. Such results is deemed that the positive (+) correlation is recognized among the species, of which growing environments are similar, and the negative (-) correlation .represents among the species, of which preferential environments are different.

Susceptibility Loci Associations with Prostate Cancer Risk in Northern Chinese Men

  • Wang, Na-Na;Xu, Yong;Yang, Kuo;Wei, Dong;Zhang, Yao-Guang;Liu, Ming;Shi, Xiao-Hong;Liang, Si-Ying;Sun, Liang;Zhu, Xiao-Quan;Yang, Yi-Ge;Tang, Lei;Zhao, Cheng-Xiao;Wang, Xin;Chen, Xin;Hui, Juan;Zhang, Yu-Hong;Zhu, Ling;Yang, Fan;Zhang, Yu-Rong;Yang, Ze;Wang, Jian-Ye
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.5
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    • pp.3075-3078
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    • 2013
  • Background: KLK3 gene products, like human prostate-specific antigen (PSA), are important biomarkers in the clinical diagnosis of prostate cancer (PCa). G protein-coupled receptor RFX6, C2orf43 and FOXP4 signaling plays important roles in the development of PCa. However, associations of these genes with PCa in northern Chinese men remain to be detailed. This study aimed to investigate their impact on occurrence and level of malignancy. Methods: All subjects were from Beijing and Tianjin, including 266 cases with prostate cancer and 288 normal individuals as controls. We evaluated associations between clinical covariates (age at diagnosis, prostate specific antigen, Gleason score, tumor stage and aggressive) and 6 candidate PCa risk loci, genotyped by PCR- high resolution melting curve and sequencing methods. Results: Case-control analysis of allelic frequency of PCa associated with PCa showed that one of the 6 candidate risk loci, rs339331 in the RFX6 gene, was associated with reduced risk of prostate cancer (odds ratio (OR) = 0.73, 95% confidence interval (CI) =0.57-0.94, P = 0.013) in northern Chinese men. In addition, subjects with CX (CC+TC) genotypes had a decreased risk for prostrate cancer compared to those carrying the TT homozygote (OR =0.64, 95% CI = 0.45- 0.90, P = 0.008). The TT genotype of 13q22 (rs9600079, T) was associated with tumor stage (P=0.044, OR=2.34, 95% CI=0.94-5.87). Other SNPs were not significantly associated with clinical covariates in prostate cancer (P > 0.05). Conclusions. rs339331 in the RFX6 gene may be associated with prostate cancer as a susceptibility locus in northern Chinese men.

Exonic SNP (rs7144, 3’-UTR) in CD46 Molecule and Complement Regulatory Protein (CD46) Gene Associated with Excess Syndrome to Categorize Korean Bronchial Asthma Patients (한국인 기관지 천식 허증(虛證), 실증(實證) 환자와 CD46 유전자 다형성과의 관계)

  • Lee, Mei;Baek, Hyun-jung;Park, Eui-keun;Kim, Kwan-il;Lee, Beom-joon;Kim, Su-kang;Chung, Joo-ho;Kim, Jin-ju;Kim, Mi-a;Jung, Hee-jae;Jung, Sung-ki
    • The Journal of Internal Korean Medicine
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    • v.36 no.4
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    • pp.547-561
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    • 2015
  • Objectives In this study, we divided Korean asthma patients into excess syndrome or deficiency syndrome groups according to clinical phenotype. Genetic analysis was conducted to investigate the association of exonic SNPs in the CD46 gene polymorphism with the clinical phenotype based on the differentiation syndrome of the bronchial asthma patients.Methods There were 95 healthy patients (control group) and 53 asthma patients. (The deficiency syndrome group included 24 and the excess syndrome group 29). We searched the exonic areas of the CD46 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. We finally selected two SNPs: rs138843816, Ser13Phe and rs7144, 3’-UTR. Hardy-Weinberg equilibrium was calculated using SNPStats.Results There were significant differences in the codominant 1 model and the dominant model between the healthy group and the asthma group. There were significant differences between deficiency syndrome group and the excess syndrome group in the genotype frequencies and in the codominant 1 model, the dominant model, and the log-additive model. The allele frequency of rs7144C showed a significant difference between the deficiency syndrome group and the excess syndrome group. Two-SNP haplotype analysis showed a significant difference in frequency in the deficiency syndrome group and in the excess syndrome group. There were significant differences between the healthy group and the excess syndrome group in the codominant 1 model, the dominant model, and the log-additive model. The frequency of the rs7144 C allele exhibited a significant difference in the demonstration. SNP haplotype analysis between the healthy group and the excess syndrome group showed a significant difference in the frequency of the CT haplotype and the CC haplotype.Conclusions The results indicate that two CD46 SNPs (rs138843816, Ser13Phe and rs7144, 3′–UTR) might be associated with the symptomatic excess syndrome in Korean asthma patients.

Analysis of Redcell and Blood Protein Typing in Mongolian Horse (몽고말의 적혈구항원형 및 혈액단백질형 분석)

  • Cho, G.J.;Cho, B.W.
    • Journal of Animal Science and Technology
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    • v.46 no.6
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    • pp.887-896
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    • 2004
  • The present study was carried out to investigate the blood markers of Mongolian horses. The blood redcell types and blood protein types(biochemical polymorphisrns) were tested from 19 Mongolian horses by serological and electrophoretic procedure, and their phenotypes and gene frequencies were estimated. The blood group and biochemical polymorphism phenotypes observed with high frequency were Aaf(42.1%), Ca(89.5%), K(84.2%), Ua(63.2%), Pa(42.1%) P42.1%), Qc(31.6%) Q(31.6%), ALAB((52.6%), AIBK(89.5%), ES1(63.2%), GCF(78.9%), HBBI1(68.4%), PGDF(84.2%), TFFIR(21.1%), TFF2R(21.1%)(21.1%), and genotypes Dcgm/dghm(15.8%), Ddghm/dghm(15.8%), Dad/dghm(10.5%), Dade/dghm(10.5%), in Mongolian horses, respectively. Alleles observed with high frequency were Aa(0.4211), Ca(0.8947), K(0.8421), Ua(0.6316), Pa(0.4474), Qc(0.4474), Ddghm(0.4211), ALB(0.6579), AIBK(0.9211), ESI(0.7895), GCF(0.8947), HBBI(0.7895), PGDF(0.8421) and TFR(0.3421) in Mongolian horses. These results present basic information for estimating the genetic relationships between the Korean native horse, and developing a system for parentage verification and individuals identification in Mongolian horse.

A study on the menarche of middle school girls in Seoul (여학생의 초경에 관한 조사 연구 (서울시내 여자중학생을 대상으로))

  • Kim, Mi-Hwa
    • Korean Journal of Health Education and Promotion
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    • v.1 no.1
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    • pp.21-36
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    • 1983
  • It is assumed that menarche is affected not only by the biological factors such as nutrition and genetic heritage, but also it is affected by other socio-cultural environmental factors including weather, geographic location, education and level of modernization. Also recent trend of menarche in Korea indicates that a lot of discussion are being generated to the need of sex education as a part of formal school education. The purpose of this study is to develop the school health education program by determine the age of menarche, the factors relavant to time of menarche and psycho-mental state of students at the time in menarche and investigate the present state of school health education relate to menarche of adolescents. The total number of 732 girls was drown from first, second and third grades of 4 middle schools in Seoul. For the data collection the survey was conducted during the period from May 1 to May 20, 1982 by using prepared questionair. The major results are summarized as follow; 1. Mean age at menarche and the percent distribution of menarche experienced. It was observed that about 68.7% of sampled students have been experienced menarche at the time interviewed. For the each group, age at menarche is revealed that among the students about 37.8% are experienced menarche for under 12 years old group, 62.1% for 13 year-old group, 80.6% for 14 year-old group and 95.5% for over 15 years old. In sum it was found that the mean age at menarche was 12.3 years old, ranged from age at 10 as earlist the age at 15 as latest. 2. Variables associated with age at menarche. 1) There was tendency those student who belong to upper class economic status have had menarche earlier than those student who belong to lower class. Therefore, economic status is closely related to age at menarche. 2) In time of mother's education level, it is also found that those students whose mother's education levels from high school and college are experienced menarche earlier than those students whose mother's education levels from primary school and no-education. 3) However, in connection with home discipline, there was no significant relationship between age at menarche and home disciplines which are being treated "Rigid", "Moderated ", "Indifferent". 4) Degree of communication between parents and daughter about sex matters was found to be associated each others in determination of age at menarche. 5) It was found that high association between mother's menarche age and their daughter's menarche age was observed. Mother's age at menarche earlier trend to be shown also as earlier of their daughters. 6) Those students belong to "D & E" of physical substantiality index are trend to be earlier in menarche than those students in the index "A & B". 3. Psycho-mental state at the time of menarche. Out of the total students 68.2% had at least one or more than one of subjective symptoms. Shyness was shown as most higher prevalent symptom and others are fear, emotional instability, unpleasant feeling, depression, radical behavior, inferior complex and satisfaction appeared. Very few cases are appeared be guilty and stealing feeling. 4. The present status of school health education program related to menarche. As to the source of information about menarche, teacher was a main source with average index 5.88 and the other informants were mother & family member, friends, books and magagines, movies, television, and radio. For the problem solving at menarche, mother & family members were subject to discussion with an average index 6.02 as high. The others for discuss and knowledge about menarche were books, magagine, friends, teachers, and self-learning based on own experienced. The time of learning about menarche, it was learned as highest percentage with 43.2% at a 6 grades of primary school, middle school with 34.4%, 5 grade of primary school with 18.2%, and 4 grade of primary school with 4.0% respectively.

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Association between Numerical Variations of Vertebrae and Carcass Traits in Jeju Native Black Pigs, Landrace Pigs, and Crossbred F2 Population (제주재래흑돼지와 Landrace, 교배집단 F2에서 척추의 수적 변이와 도체형질의 상관관계)

  • Cho, In-Cheol;Kim, Sang-Keum;Kim, Yoo-Kyung;Kang, Yong-Jun;Yang, Sung-Nyun;Park, Yong-Sang;Cho, Won-Mo;Cho, Sang-Rae;Kim, Nam-Young;Chae, Hyun-Seok;Seong, Pil-Nam;Park, Beom-Young;Lee, Jun-Heon;Lee, Jae-Bong;Yoo, Chae-Kyoung;Han, Sang-Hyun;Ko, Moon-Suck
    • Journal of Life Science
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    • v.23 no.7
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    • pp.854-862
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    • 2013
  • The number of thoracic and lumbar vertebrae is known to be an unfixed trait among mammals. This study focused on the relationship between numerical variations of cervical (CER), thoracic (THO), and lumbar (LUM) vertebrae and the total number of vertebrae (TNV) and carcass traits in Jejunative black pigs (JBPs), Landrace pigs, and their intercrossed F2 population. There were no numerical variations in CER vertebrae. On the other hand, the numbers of THO and LUM vertebrae and the TNV varied in all three populations. Of the traits investigated in the three populations, only the means±SE of the LUM vertebrae did not show statistical significance (p>0.05). The carcass weights (CW), meat color (MC), marbling score (MS), backfat thickness (BFT), carcass length (CLE), THO vertebrae, and TNV all showed statistical significance (p<0.05). The JBP had 14-16 THO vertebrae, 5-6 LUM vertebrae, and 27-29 TNV. The Landrace pigs had 15-16 THO vertebrae, 5-7 LUM vertebrae, and 28-29 TNV. The F2 population had 14-17 THO vertebrae, 5-7 LUM vertebrae, and 27-30 TNV. In the F2 population, increased numbers of THO vertebrae and TNV were associated with a significant increase in the CW, CLE, and BFT (p<0.05). In particular, the increase in the TNV was caused by an increase in the number of THO rather than LUM vertebrae. Although the animals with a greater number of THO and TNV had thicker backfat, they had a longer CLE and a heavier CW. Both these traits are economically more important than the level of backfat when determining the productivity level. These results suggest that genetic selection to increase the number of vertebrae, especially in Landrace pigs, JBPs, and their related populations, may be an excellent strategy for improving productivity.

Blood Pressure in Relation to α-Adducin, Angiotensinogen, ACE Gene Polymorphisms and Sodium Intake in Korean Female Elderly Subjects (한국 여성 노인에서 α -Adducin, Angiotensinogen, ACE 유전자다형성 및 나트륨 섭취수준에 따른 혈압의 비교)

  • Chae, Sun-Ju;Chung, Ja-Yong
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.35 no.10
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    • pp.1371-1377
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    • 2006
  • Gene polymorphisms that are associated with sodium homeostasis in the body, such as αadducin (ADDI, Gly460Trp), angiotensinogen (AGT, Met235Thr), and angiotensin converting enzyme (ACE, Ins/Del) may increase the risk for the development of hypertension. The purpose of this study was to elucidate the relationship between the singular and combined effects of ADD1, AGT, ACE genotypes, and blood pressure in elderly population. Moreover, we examined the interaction of sodium intake and polymorphisms of aforementioned genes and their effects on blood pressure. Among one hundred and nine female subjects, aged 60 and over (mean 75.9 yr), the major alleles for ADD1, AGT, and ACE polymorphisms in the studied population were Gly (66.1%), Thr (64.2%), Ins (83.5%), respectively. Analysis on the combined effects of genetic variation showed that subjects who were both ADD1 Trp/Trp and ACE Del/Del homozygotes had significantly higher systolic blood pressure (p=0.01). Similarly, ACE Del/Del homozygotes who had AGT Met allele had significantly higher diastolic blood pressure (p<0.001). However, in single-gene analyses, no association was found between any specific genotype and blood pressure. In subjects with low sodium intake, ADD1 Trp/Trp homozygotes had significantly higher systolic blood pressure than subjects who had ADD1 Gly allele (138 mmHg vs. 127 mmHg, p=0.03). There was no difference in blood pressure between ADD1 Trp/Trp and ADD1 Gly/Gly or Gly/Trp, in subjects with high sodium intake. In summary, this study shows that interactions between the ADD1, AGT and ACE genes influence systolic and diastolic blood pressure in elderly subjects, and dietary sodium intake can modulate the effects of ADD1 Gly460Trp polymorphisms on systolic blood pres sure.