• Title/Summary/Keyword: genetic association studies

Search Result 617, Processing Time 0.029 seconds

Association of Interleukin-27 rs 153109 Single Nucleotide Polymorphism with Spontaneous Resolution of Hepatitis C Virus - Genotype 4a Infection in Egyptian Patients

  • Fawzy, Mariam M;Wahid, Ahmed;Nazmy, Maiiada H;Hashem, Mohamed;Waked, Imam;Abdelwahab, Sayed F
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.17 no.4
    • /
    • pp.2093-2097
    • /
    • 2016
  • Background: HCV is a major global health problem. IL-27 is a member of the IL-6/IL-12 cytokine family with a broad range of anti-inflammatory properties. Recent studies highlighted the effect of a SNP in the IL-27 promoter region on modulating the progression of infectious diseases and individual responses to therapy. Aim of the work: The present study investigated the potential role of (-964 A/G) SNP in the promoter region of IL-27p28 gene (alleles rs153109) on the outcome of HCV infection among genotype 4a infected patients. Materials and Methods: HCV genotyping confirmed that all of the HCV-infected patients had genotype 4a infection. Genomic DNA was extracted from 111 patients with chronic HCV infection, 42 spontaneous resolvers (SR) and 16 healthy controls. IL- 27p28.rs153109 genotyping was assessed using PCR-RFLP then confirmed by DNA sequencing. Results: The frequency of IL-27-p28.rs153109AA, AG, and GG genotypes among chronically infected subjects were 74.8 %, 25.2%, and 0% while among the SR, they were 57.1%, 35.7%, and 7.14%, respectively. Our data show the unique presence of G/G genotype in the SR group (3 patients; 7.14%). Moreover, the "G" allele frequencies among chronic and resolved subjects were 12.6% and 25.0%, respectively (p=0.0136). Importantly, subjects with the GG genotype were more likely to clear their HCV infection than those with the AA genotype (p=0.0118). Conclusions: HCV genotype 4a subjects with the IL-27-p28.rs153109 A/G and G/G genotype were more likely to clear their HCV infection. Therefore, we propose IL- 27p28.rs153109SNPas a genetic biomarker for predicting HCV infection outcome.

Statistical Genetic Studies on Cattle Breeding for Dairy Productivity in Bangladesh: II. Estimation of Reciprocal and Heterosis Effects and Optimum Crossbreeding System between the Local Breeds and Exotic Breeds for Milk Performance

  • Hossain, K.B.;Takayanagi, S.;Miyake, T.;Bhuiyan, A.K.F.H.;Sasaki, Y.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.15 no.6
    • /
    • pp.777-782
    • /
    • 2002
  • Reciprocal effects among local breeds and additive and heterosis effects were estimated for total milk production per lactation (TLP), lactation length (LL) and daily milk yield (DMY). Procedures for an optimum crossbreeding system were examined by comparing various crossbred combinations. Three data sets were chosen from the total records collected from 1962 to 1997. Data set I with a total of 5,938 records composed of 9 breed groups for reciprocal crosses, data set II with a total of 6,064 records composed of 5 breed groups for additive and heterosis effects and data set III with a total of 10,319 records composed of 42 breed groups for optimum crossbreeding system were analyzed. The least squares ANOVA was used. The reciprocal crosses between Red Sindhi and the Bangladeshi Local showed significant difference. When the Red Sindhi was used as cow, the cross was superior to the opposite in terms of the three performance traits. The results showed that additive breed effects on both TLP and DMY were positive and highly significant between Bos indicus and Bos taurus, whereas the individual heterosis effects were not significant. In general, any local breeds were improved two to three times by crossing with the Friesian once or twice. However, the effect was reduced when the grading up with the Friesian was repeated more than twice. On the other hand, when the local breed was crossed with the other breeds such as Holstein and Jersey, the improvement of TLP was less. Crossing the F1 cows with the Friesian bull gave further improvement. Almost the same trends were found also for LL and DMY. The local breeds and their crosses are raised mainly for draft animals, then it is recommended that the crossbreds between the local cows and Friesian are used for dairy purposes and more than 75% Friesian blood is used for beef.

Effects of Sperm Pretreatments and In vitro Culture Systems on Development of In vitro Fertilized Embryos Derived from Prepubertal Boer Goat Oocytes in China

  • Lv, Lihua;Yue, Wenbin;Liu, Wenzhong;Ren, Youshe;Li, Fuzhong;Lee, Kyung-Bon;Smith, George W.
    • Asian-Australasian Journal of Animal Sciences
    • /
    • v.22 no.7
    • /
    • pp.969-976
    • /
    • 2009
  • Use of oocytes from prepubertal animals for in vitro embryo production holds potential application for reducing generation intervals and increasing genetic progress through embryo transfer. The objective of these studies was to compare the effect of three sperm pretreatments (prior to in vitro fertilization) and seven embryo culture protocols on fertilization rate and (or) subsequent development of in vitro fertilized embryos derived from oocytes harvested from ovaries of 1-6 month old prepubertal Boer goats in China. Cleavage rates were highest for embryos fertilized with heparin-treated versus calcium ionophore- or caffeine-treated sperm. Similar rates of blastocyst development were observed using heparin- and ionophore-treated sperm, which were higher than obtained with caffeine-treated sperm. No differences in cleavage or blastocyst rates were observed following embryo culture in basal medias (synthetic oviductal fluid (SOF), Charles Rosenkrans 1 (CR1) or tissue culture medium-199 (TCM-199)) containing 10% fetal bovine serum (FBS). Cumulus or oviductal cell co-culture did not enhance cleavage or blastocyst rates relative to culture in SOF+10% FBS. Replacement of FBS in SOF medium with 0.3% BSA increased cleavage rates, but did not increase rates of blastocyst development. Sequential culture in SOF+0.3% BSA followed by SOF+10% FBS increased blastocyst yield versus continuous culture in SOF+10% FBS and tended to increase blastocyst yield versus continuous culture in SOF+0.3% BSA. These results demonstrate a pronounced effects of sperm pretreatments and in vitro embryo culture systems on rates of blastocyst development and provide a potential protocol (sperm pretreatment with heparin and sequential embryo culture in SOF+0.3% BSA followed by SOF+10% FBS) for generation of the significant numbers of in vitro produced blastocysts from oocytes of prepubertal Boer goats necessary for application of embryo transfer in rural regions of China for distribution of Boer goat genetics.

Characteristics of MSX1 gene in Korean nonsyndromic cleft lip and palate individuals (한국인 비증후군성 구순구개열자에서 MSX1 유전자의 특성에 대한 연구)

  • Lee, Hae-Kyung;Kim, Seong-Sik;Son, Woo-Sung
    • The korean journal of orthodontics
    • /
    • v.38 no.2
    • /
    • pp.133-143
    • /
    • 2008
  • Objective: This study was performed to identify the characteristics of the MSX1 gene (locus chromosome 4p16) in Korean nonsyndromic cleft lip and palate (CL/P), which is assumed to be a major candidate gene acting as a causal factor in nonsyndromic CL/P and missing teeth. Methods: The 36 individuals (23 males and 13 females) who had visited the department of orthodontics at from 1998 to 2002 and who had nonsyndromic CL/P were included in the study. Using a PCR-based assay, the MSX1 gene was amplified, sequenced, and searched for inferred protein products (Reference: Homo sapiens MSX1, accession number AF426432 and NP_002439). The common single nucleotide polymorph isms were observed. Results: In exon 1, nucleotide "A" of the 253 basepair (bp) region was substituted for "G", and in the 255 bp region, nucleotide "G" was inserted. In exon 2, nucleotide "C" of the 11 bp region was substituted for "A", and "T" or "G" was inserted into the 351 bp region whereas "T" or "A" was inserted into the 352 bp region. In protein analysis, "Thr85Ala" missense mutation was found. The "Thr85Ala" missense mutation in this study is different from those of studies using subjects of other races. Conclusions: The results suggest that there is specific mutation of MSX1 in Korean and it plays an important role in Korean nonsyndromic CL/P. However, any distinct genetic polymorphisms between CL/P with missing teeth in the cleft region and CL/P without missing teeth could not be found.

Estimated Factors and Clinical Characteristics of Children Diagnosed with Idiopathic Precocious Puberty (특발성 진성 성조숙증으로 진단된 소아의 원인 및 임상적 분석)

  • Kim, Ki-Hoon;Shin, Dong-Gil;Kim, Dae-Hyun
    • The Journal of Pediatrics of Korean Medicine
    • /
    • v.25 no.2
    • /
    • pp.111-120
    • /
    • 2011
  • Objectives: The purpose of this study is to estimate genetic and environmental factors, which can affect Idiopathic true Precocious puberty, and to evaluate the clinical and endocrinologic characteristics. Methods: Retrospective and Comparative analysis of 76 children (72 girls and 4 boys) has been diagnosed with idiopathic true precocious puberty, and treated with GnRHa from December 2008 to July 2011. Results: 1. The Average chronological age (CA. yr) of children diagnosed with idiopathic true precocious puberty was $8.40{\pm}0.81$ (girls), $9.93{\pm}0.12$ (boys). 2. The Average height & weight percentile (%ile) of the girls diagnosed with idiopathic true precocious puberty was $67.38{\pm}22.04$, $67.69{\pm}23.20$. 3. The girls' mothers have diagnosed with idiopathic true precocious puberty, and they were shorter than the average. This shows that mother's small height and idiopathic true precocious puberty are closely related to each other. 4. BMI percentile (%ile) of girls diagnosed with idiopathic true precocious puberty was $63.26{\pm}24.86$. 23.6% of children were diagnosed with overweight or obesity. This result shows that obesity and idiopathic true precocious puberty are proportionally related. 5. Birth weights (kg) of the children diagnosed with idiopathic true precocious puberty were $3.16{\pm}0.43$ (girls), $3.15{\pm}0.38$ (boys). 8.3% of children were diagnosed with Intrauterine growth retardation. 6. The Average bone ages (BA. yr) of the children diagnosed with idiopathic true precocious puberty were $10.51{\pm}0.99$ (girls), $12.10{\pm}0.97$ (boys). The Average BA-CA was $2.11{\pm}0.81$ (girls), $2.00{\pm}0.87$ (boys). 7. The Average predicted adults' height (PAH. cm) of the children diagnosed with idiopathic true precocious puberty was $151.61{\pm}4.00$ (girls), $163.50{\pm}2.15$ (boys). The Average MPH-PAH was $6.84{\pm}4.91$ (girls), $6.00{\pm}5.35$ (boys). 8. 23.6% of the children treated with GnRHa were co-treated with Growth Hormone. Conclusions: Estimated factors which cause Idiopathic true precocious puberty are mother's small height, obesity, and Intrauterine growth retardation. However, the studies of Oriental Medicine for Idiopathic true precocious puberty were lacking. Further clinical and experimental researches are needed.

Prevalence of obesity, hypertension, and hyperlipidemia in Gunpo children of low economic status (군포시 저소득층 소아의 비만도, 혈압 및 지질검사)

  • Yi, Kyung Hee
    • Clinical and Experimental Pediatrics
    • /
    • v.51 no.12
    • /
    • pp.1310-1314
    • /
    • 2008
  • Purpose : This study aimed to assess the prevalence of obesity, hypertension, and hyperlipidemia in children from low-income families in Gunpo and to evaluate whether economic status affects the prevalence of obesity. Methods : Between October 2007 and March 2008, 341 children (167 girls and 174 boys; age, 6 to 13 years) were enrolled in this study. All these children came from families who earned minimum wages and who were supported by government. We measured height, weight, and blood pressure and performed laboratory examinations, including total cholesterol, high-density lipoprotein cholesterol, and triglycerides. Body mass index (BMI) was calculated using weight and height. We compared the prevalence of obesity, hypertension, and hyperlipidemia in children from low-income families with the prevalence of these maladies found in other studies. Results : Prevalence of obesity ($BMI{\geq}95^{th}$) was 7.1%. Prevalence of hypertension and hyperlipidemia was 8.2% and 16.7%, respectively. In the obese group, prevalence of hypertension and hyperlipidemia was 25.0% and 45.8%, respectively. Obesity and hyperlipidemia were slightly more frequent in our study than those found in other reports, and the prevalence of hypertension in the obese group was very high compared with statistics from the Korean National Health and Nutrition Examination Survey (25% vs. 19.5%) and those from other reports. Conclusion : Low-income status was associated with an increased incidence of obesity, hyperlipidemia, and hypertension. Hypertension showed an especially strong association with economic status, which seemed to correlate with genetic, environmental, and dietary effects.

Polymorphisms in the SERPINA1 Gene and the Risk of Chronic Obstructive Pulmonary Disease in a Korean Population (한국인에서 SERPINA1 유전자 다형성과 만성폐쇄성폐질환의 위험도)

  • Cha, Seung-Ick;Choi, Jin Eun;Lee, Jong Myung;Yoo, Seung Soo;Kim, Chang-Ho;Lee, Won Kee;Jung, Tae-Hoon;Kim, Nung Soo;Park, Jae Yong
    • Tuberculosis and Respiratory Diseases
    • /
    • v.65 no.4
    • /
    • pp.285-291
    • /
    • 2008
  • Background: We conducted a case-control study to evaluate the potential association between SERPINA1 genotypes ($M1_{Val}$, $M1_{Ala}$, S, and Z) and the risk COPD. Methods: The study population consisted of 93 patients with COPD and 112 healthy controls. The polymerase chain reaction and restriction fragment length polymorphism for detecting the SERPINA1 variants. Results: The M2 allele of the SERPINA1 gene was significantly associated with the risk of COPD in Koreans. The effect of the M2 allele on the risk of COPD was more pronounced in the subgroup<64 years. Conclusion: These results suggest that SERPINA1 polymorphisms may contribute to a genetic predisposition for COPD. However, additional studies with larger sample sizes are required to confirm our findings.

Genetic studies of blood markers in Cheju horses II. Blood protein types (제주마의 혈액형에 관한 연구 II. 혈액 단백질형)

  • Cho, Gil-jae;Kim, Bong-hwan;Lee, Du-sik;Lee, Kyoung-kap
    • Korean Journal of Veterinary Research
    • /
    • v.40 no.2
    • /
    • pp.283-290
    • /
    • 2000
  • The present study was carried out to investigate the blood markers of Cheju horses. The blood protein types (biochemical polymorphism) were tested from 73 Cheju native horses (CNH) and 118 Cheju racehorses(CRH) by horizontal polyacrylamide gel electrophoresis (HPAGE), isoelectric focusing (IEF) and starch gel electrophoresis (SGE). At the same time, their phenotypes and gene frequencies were studied. The biochemical polymorphism phenotypes observed with high frequency were A1B-KK(97.3%), ALB-AB(49.3%), AP-SS(100%), ES-II(30.1%), GC-FF(87.7%), HB-BIBI(49.3%), TF-F2R(41.1%), TF-EF2(8.2%), PGD-FF(97.3%), PGM-SS(50.7%), GPI-II(74.0%) in CNH, While A1B-KK(99.2%), ALB-BB(50.8%), AP-SS(99.2%), ES-II(42.4%), ES-IS(14.4%), GC-FF(95.8%), HBB-IB II(39.8%), TF-F2R(21.2%), PGD-FF(77.1%), PGD-SS(4.3%), PGM-SS(72.9%), GPI-II(90.7%) in CRH. Alleles observed with high frequency were $AlB^{K}$(0.986), $ALB^{B}$(0.616), $AP^{S}$(1.000), $ES^{I}$(0.479), $ES^{F}$(0.274), $GC^{F}$(0.938), $GPI^{I}$(0.856), $HB^{BI}$(0.685), $PGD^{F}$(0.993), $PGM^{S}$(0.753), $TF^{F2}$(0.404), $TF^{R}$(0.397) in CNH and $AlB^{K}$(0.996), $ALB^{B}$(0.720), $AP^{S}$(0.996), $ES^{I}$(0.661), $ES^{F}$(0.203), $GC^{F}$(0.979), $GPI^{I}$(0.936), $HB^{BI}$(0.534), $PGD^{F}$(0.864), $PGM^{S}$(0.852), $TF^{F2}$(0.428), $TF^{R}$(0.272) in CRH. $TF^{E}$(0.041) allele and silent gene($ES^{I{^*}}$ : 0.014) were observed in CNH. The mean heterozygosity in CNH and CRH was observed 0.2974 and 0.2864, respectively.

  • PDF

Epidemiological Study of Outbreak of Gastroenteritis Associated with Norovirus and Astrovirus in Busan, Korea (집단식중독 환자에서 검출된 노로바이러스 및 아스트로바이러스의 분자역학적 연구)

  • Koo, Hee Soo;Jo, Hyeon Cheol;Baik, Hyung Suk
    • Journal of Life Science
    • /
    • v.26 no.9
    • /
    • pp.999-1006
    • /
    • 2016
  • This paper studies an infection of norovirus and astrovirus in outbreaks in Korea. In March 2016, gastroenteritis outbreaks occurred in Busan. 522 students of three departments at university D had meeting at a restaurant near the university. Some of them had symptom such as diarrhea, vomiting. Epidemiological, laboratory and environmental investigations were performed to identify the agents of the outbreaks. Fecal specimens were collected from 35 students and 7 food handlers to identify causative viral agents. Norovirus genogroup GI and GII were detected from diarrhea patients. Astrovirus was also detected from some of them. In particular, these outbreaks were the first occurrence associated with astrovirus in Busan. Total of 42 samples were collected, and 24 samples resulted in positive to norovirus (16 cases) and astrovirus (8 cases). To identify the molecular genetic information of norovirus, we carried out sequences analysis of the detected strains. Norovirus genotypes were classified into GI.3, GI.4, GII.4, GII.13, GII.17 and GII.21. Astrovirus genotypes were seven astrovirus type 5 and one astrovirus type 2. We performed environmental investigation about water at the kitchen, but norovirus and astrovirus were not detected. The statistical analysis was conducted to evaluate the association between illness and risk factors. The results of this study may contribute to accumulate more the epidemiological data and develop the public health and hygiene.

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

  • Choi, Yu-Mi;Shim, Kye-Sik;Yoon, Kyung-Lim;Han, Mi-Young;Cha, Sung-Ho;Kim, Su-Kang;Jung, Joo-Ho
    • Clinical and Experimental Pediatrics
    • /
    • v.55 no.1
    • /
    • pp.18-23
    • /
    • 2012
  • Purpose: Transforming growth factor beta receptor 2 ($TGFBR2$) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of $TGFBR2$ gene suggest that the $TGFBR2$ gene SNPs are related to the pathogenesis of Kawasaki disease (KD) and coronary artery lesion (CAL). Methods: The subjects were 105 patients with KD and 500 healthy adults as controls. Mean age of KD group was 32 months age and 26.6% of those had CAL. We selected $TGFBR2$ gene SNPs from serum and performed direct sequencing. Results: The sequences of the eleven SNPs in the $TGFBR2$ gene were compared between the KD group and controls. Three SNPs (rs1495592, rs6550004, rs795430) were associated with development of KD ($P$=0.019, $P$=0.026, $P$=0.016, respectively). One SNP (rs1495592) was associated with CAL in KD group ($P$=0.022). Conclusion: Eleven SNPs in $TGFBR2$ gene were identified at that time the genome wide association. But, with the change of the data base, only six SNPs remained associated with the $TGFBR2$ gene. One of the six SNPs (rs6550004) was associated with development of KD. One SNP associated with CAL (rs1495592) was disassociated from the $TGFBR2$ gene. The other five SNPs were not functionally identified, but these SNPs are notable because the data base is changing. Further studies involving larger group of patients with KD are needed.