• Asian Pacific Journal of Cancer Prevention
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• v.16 no.16
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• pp.6953-6961
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• 2015

Background: Tobacco and alcohol contain or may generate carcinogenic compounds related to cancers. CYP1A1 enzymes act upon these carcinogens before elimination from the body. The aim of this study was to investigate whether CYP1A1 T3801C polymorphism modulates the relationship between tobacco and alcohol-associated head and neck cancer (HNC) susceptibility among the northeast Indian population. Materials and Methods: One hundred and seventy histologically confirmed HNC cases and 230 controls were included within the study. The CYP1A1 T3801C polymorphism was determined using PCR-RFLP, and the results were confirmed by DNA sequencing. Logistic regression (LR) and multifactor dimensionality reduction (MDR) approaches were applied for statistical analysis. Results: The CYP1A1 CC genotype was significantly associated with HNC risk (P=0.045). A significantly increased risk of HNC (OR=6.09; P<0.0001) was observed in individuals with combined habits of smoking, alcohol drinking and tobacco-betel quid chewing. Further, gene-environment interactions revealed enhanced risks of HNC among smokers, alcohol drinkers and tobacco-betel quid chewers carrying CYP1A1 TC or CC genotypes. The highest risk of HNC was observed among smokers (OR=7.55; P=0.009) and chewers (OR=10.8; P<0.0001) carrying the CYP1A1 CC genotype. In MDR analysis, the best model for HNC risk was the three-factor model combination of smoking, tobacco-betel quid chewing and the CYP1A1 variant genotype (CVC=99/100; TBA=0.605; P<0.0001); whereas interaction entropy graphs showed synergistic interaction between tobacco habits and CYP1A1. Conclusions: Our results confirm that the CYP1A1 T3801C polymorphism modifies the risk of HNC and further demonstrated importance of gene-environment interaction.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8413-8422
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• 2014

Background: To investigate the relationship of five TP53 polymorphisms (p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a) with the esophageal cancer (EC) risk in North Indians. Materials and Methods: Genotyping of p.P47S, p.R72P, PIN3 ins16bp, p.R213R and r.13494g>a polymorphisms of TP53 in 136 sporadic EC patients and 136 controls using polymerase chain reaction and PCR-RFLP. Results: The frequencies of genotype RR, RP and PP of p.R72P polymorphism were 16.91 vs 26.47%, 58.82 vs 49.27% and 24.27 vs 24.27% among patients and controls respectively. We observed significantly increased frequency of RP genotype in cases as compared to controls (OR=1.87, 95% CI, 1.01-3.46, p=0.05). The frequencies of genotype A1A1, A1A2 and A2A2 of PIN3 ins16bp polymorphism were 69.12 vs 70.59%, 27.20 vs 25% and 3.68 vs 4.41% among patients and controls. There was no significant difference among genotype and allele distribution between patients and controls. The frequencies of genotype GG, GA and AA of r.13494g>a polymorphism were 62.50 vs 64.70%, 34.56 vs 30.15% and 2.94 vs 5.15% among patients and controls respectively. No significant difference between genotype and allele frequency was observed in the patients and controls. For p.P47S and p.R213R polymorphisms, all the cases and controls had homozygous wild type genotype. The RP-A1A1-GG genotype combination shows significant risk for EC (OR=2.01, 95%CI: 1.01-3.99, p=0.05). Conclusions: Among the five TP53 polymorphisms investigated, only p.R72P polymorphism may contributes to EC susceptibility.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.2019-2026
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• 2015

Much interest has been drawn to possible associations between vitamin D receptor (VDR) gene polymorphisms and colorectal cancer risk in conjunction with potentially protective effects of calcium and vitamin D. In a study of 685 cases of colorectal cancer and 778 community controls in Japan, we examined the associations of the FokI, BsmI, ApaI, and TaqI polymorphisms with colorectal cancer risk and effect modification by dietary calcium and vitamin D. Genotypes were determined by the PCR-RFLP method. The ApaI polymorphism seemed to be associated with a decreased risk of colorectal cancer, particularly of rectal cancer. The adjusted odds ratio of colorectal cancer for the ApaI AA and Aa genotypes combined versus the aa genotype was 0.83 (95% confidence interval [CI] 0.67-1.02), and the corresponding value for rectal cancer was 0.75 (95%CI 0.56-0.99). A decreased risk of colorectal cancer for the ApaI AA and Aa genotypes combined was more evident in individuals with high calcium intake (interaction p=0.055). The FokI polymorphism seemed to be associated with a decreased risk of colon cancer among those with high vitamin D intake (interaction p=0.09). The BsmI and TaqI polymorphisms were unrelated to colorectal cancer risk, and the null associations were not modified by calcium or vitamin D intake. In conclusion, the ApaI polymorphism may be associated with a decreased risk of colorectal cancer in Japanese, dependent on dietary calcium intake.

• Journal of Animal Science and Technology
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• v.57 no.9
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• pp.31.1-31.11
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• 2015

Background: This study was conducted to investigate the potential association of variation in the insulin-like growth factor binding protein 2 (IGFBP2) gene with growth, carcass and meat quality traits in pigs. IGFBP2 is a member of the insulin-like growth factor binding protein family that is involved in regulating growth, and it maps to a region of pig chromosome 15 containing significant quantitative trait loci that affect economically important trait phenotypes. Results: An IGFBP2 polymorphism was identified in the Michigan State University (MSU) Duroc ${\times}$ Pietrain $F_2$ resource population (n = 408), and pigs were genotyped by MspI PCR-RFLP. Subsequently, a Duroc pig population from the National Swine Registry, USA, (n = 326) was genotyped using an Illumina Golden Gate assay. The IGFBP2 genotypic frequencies among the MSU resource population pigs were 3.43, 47.06 and 49.51 % for the AA, AB and BB genotypes, respectively. The genotypic frequencies for the Duroc pigs were 9.82, 47.85, and 42.33 % for the AA, AB and BB genotypes, respectively. Genotype effects (P < 0.05) were found in the MSU resource population for backfat thickness at $10^{th}$ rib and last rib as determined by ultrasound at 10, 13, 16 and 19 weeks of age, ADG from 10 to 22 weeks of age, and age to reach 105 kg. A genotype effect (P < 0.05) was also found for off test Longissimus muscle area in the Duroc population. Significant effects of IGFBP2 genotype (P < 0.05) were found for drip loss, 24 h postmortem pH, pH decline from 45 min to 24 h postmortem, subjective color score, CIE $L^*$ and $b^*$, Warner-Bratzler shear force, and sensory panel scores for juiciness, tenderness, connective tissue and overall tenderness in MSU resource population pigs. Genotype effects (P < 0.05) were found for 45-min pH, CIE $L^*$ and color score in the Duroc population. Conclusions: Results of this study revealed associations of the IGFBP2 genotypes with growth, carcass and meat quality traits in pigs. The results indicate IGFBP2 as a potential candidate gene for growth rate, backfat thickness, loin muscle area and some pork quality traits.

• Tuberculosis and Respiratory Diseases
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• v.58 no.2
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• pp.135-141
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• 2005

배경 및 목적 : Multidrug Resistance-1 (MDR1) 유전자는 다약제내성에 관여하는 P-glycoprotein을 암호화한다. MDR1 유전자의 다형성은 P-glycoprotein의 발현과 기능의 차이를 일으켜 항암화학요법 반응에 영향을 미칠 수 있을 것이다. 저자들은 소세포폐암 환자에서 MDR1 유전자의 다형성과 일배체형에 따른 항암화학요법에 대한 반응을 조사하였다. 대상 및 방법 : 경북대학병원에서 병리적으로 소세포폐암으로 진단받고 etoposide-cisplatin 항암화학요법을 받은 54명을 대상으로 하였다. 전혈 5cc에서 DNA를 추출하고 PCR-RFLP법을 통해 MDR1 유전자 엑손 21의 2677G>T 다형성과, 엑손 26의 3435C>T 다형성을 조사하고 다형성과 일배체형에 따른 항암화학요법의 반응을 조사하였다. 결 과 : 2677G>T 유전자형에 따른 항암화학요법의 반응은 유의한 차이가 없었다. 3435 CC 유전자형은 3435 CT+TT 형에 비해 치료 반응율이 유의하게 높았다 (P = 0.025). 유전자형 분석 결과와 일치되게 2677G/3435C 일배체형은 다른 일배체형에 비해 치료반응을 보이는 경우가 유의하게 많았다 (P = 0.015). 결 론 : 소세포폐암에서 MDR1 유전자의 2677G>T와 3435C>T 다형성 및 이들 다형성의 일배체형은 etoposide-cisplatin 항암화학요법의 반응을 예측할 수 있는 지표로 사용될 수 있을 것으로 생각된다.

• Nutritional Sciences
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• v.6 no.4
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• pp.239-245
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• 2003

The $\beta$3-adrenergic receptor ($\beta$3AR) plays a major role in thermogenesis and lipolysis in brown and visceral adipose tissue, and has been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of $\beta$3AR gene polymorphism on the risk of hyperglycemia in 980 Korean women who attended a weight loss program in a local clinic. Each subject s height, weight, BMI, WHR, obesity index and body composition were measured. The genotype of the $\beta$3AR gene in codon 64 was analyzed by the PCR RFLP method. Serum concentrations of fasting glucose, of total and HDL cholesterol, and of TG were determined. Genotype distributions were as follows : 67% WW type, 31% WR type, and 2% RR type. Among the many measured parameters, fasting glucose levels were significantly higher in the WR/RR type compared with the WW type (p=0.0ll). When the subjects were divided into two groups by a fasting blood glucose level higher or lower than 6.105mmol/L (110mg/dl), the frequency of hyperglycemia showed a significant difference in relation to $\beta$3AR genotype as measured by $\X^2$-analysis (p=0.014); the frequency of hyperglycemia was significantly higher (at 24.8%) in WR/RR type subjects, compared to 18.2% in WW type subjects. When all of the measured parameters were included in stepwise logistic regression analyses to find the risk factors for hyperglycemia, the odds ratios for hyperglycemia were 1.573 (p=0.0ll) for the WR/RR type of the $\beta$3AR gene, 1.053 (p=0.001) for TG, 1.044 (p=0.037) for BMI, and 1.026 for age (p=0.031). These data suggest that the WR/RR genotype of the $\beta$3AR has a very strong association with increased blood glucose level and might be a significant risk factor for hyperglycemia among Korean women.

• International Journal of Industrial Entomology and Biomaterials
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• v.18 no.1
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• pp.18-27
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• 2009

B. thuringiensis strain LY-99 belonging to subsp. alesti (H3a3c), was isolated from Chinese tobacco warehouse and showed significantly high toxicity to Plutella xylostella. For the identification of the cry1-type genes from B. thuringiensis LY-99, an extended multiplex PCRrestriction fragment length polymorphism (PCRRFLP) method was established by using two pairs of universal primers based on the conserved regions of the cry1-type genes to amplify around 2.4 kb cry1-type gene fragments. Then the DNA fragment was cloned into pGEM-T Easy vector and digested with EcoRI and EcoRV enzymes. Through this method, a known cry1-type gene was successfully identified from the reference strain, B. thuringiensis subsp. alesti. In addition, the RFLP patterns revealed that B. thuringiensis LY-99 included a novel cry1A-type gene in addition to cry1Aa, cry1Ac, cry1Be and cry1Ea genes. The novel cry1A-type gene was designated cry1Ah2 (Genbank accession No DQ269474). An inverse PCR method was used to amplify the flank regions of cry1Ah2 gene. Finally, 3143 bp HindIII fragment from B. thuringiensis LY-99 plasmid DNA including 5' region and partial ORF was amplified, and sequence analysis revealed that cry1Ah2 gene from LY-99 showed 89.31% of maximum sequence similarity with cry1Ac1 crystal protein gene. In addition, the deduced amino acid sequence of Cry1Ah2 protein shared 87.80% of maximum identity with that of Cry1Ac2. This protein therefore belongs to a new class of B. thuringiensis crystal proteins.

• The korean journal of orthodontics
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• v.35 no.1 s.108
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• pp.51-59
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• 2005

The aim of this study was to compare the species and biotypes of mutans streptococci isolated from dental plaques sampled from the interfaces between the bracket aid tooth surface and smooth tooth surfaces In orthodontic patients. Dental plaque was collected from the interfaces between brackets aid teeth (test group), and from smooth tooth surfaces distant from brackets by more that 2mm (control group). The dental plaque collected by a sterilized curette was transferred into a vial of 1 X PBS. The sample in the vial was vigorously vortexed for 1 min and plated ou mitis-salivarius bacitracin (MSB) agar plate using cotton tips. The agar plates were incubated at $37^[\circ}C$ in a candle jar for 2 days, and again incubated for 1 more day at anambient temperature Individual colonies were cultured in TH broth at $37^[\circ}C\;CO_2$ incubator. The PCR-RFLP based on dextranase gene was performed for the identification of mutans streptococci at the species-level For biotyping of mutans streptococci, biochemical tests were performed There was no significant difference of the species of mutans streptococci isolated from both test and control groups However, the biotypes of the mutans streptococci isolated from test and control groups were different. These results may offer the basic data to verify the relationship between the mutans streptococci biotype and enamel decalcification or dental caries in orthodontic patients with fixed appliances.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.12
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• pp.1660-1666
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• 2012

Cystic echinococcosis (CE), one of the world's most geographically widespread diseases, still represents a considerable economic and public health significance, although a variety of methods has been used to control the disease. It has been demonstrated that genetic factors, especially variations in MHC loci, can influence the outcome of CE infection in the human population. The study described here was designed to determine whether variation in MHC-DQB1 was associated with susceptibility or resistance to CE in sheep. If so, it would lay a theoretical foundation for breeding disease resistance sheep in future. This study was carried out on 204 Chinese Merino sheep, including 101 CE sheep and 103 healthy controls. The polymorphism of MHC-DQB1 exon 2 was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, and $x^2$ test was used to compare genotype frequencies between CE sheep and healthy controls. A total of 22 alleles and 42 genotypes were identified in DQB1 exon 2 in Chinese Merino sheep. In addition, $x^2$ test showed that frequencies of DQB1-TaqIaa and DQB1-HaeIIInn genotypes were significantly higher in the healthy group (82.5% and 57.3%, respectively) than that in the CE group (57.4% and 28.9%, respectively) (both p values = 0, OR = 0.286, 0.303, respectively), suggesting that these genotypes appeared to be associated with resistance to CE. Whereas, frequencies of DQB1-TaqIab and DQB1-HaeIIImn genotypes were significantly higher in the CE group (36.9% and 32.0%, respectively), as compared with the healthy group (16.5% and 11.15%, respectively) (p = 0.001, 0.001 and OR = 2.963, 3.629, respectively), indicating that these genotypes might be associated with susceptibility to CE. It is concluded that the genetic polymorphism within MHC-DQB1 might influence immune responses to pathogens, thus leading to the development of CE or protection against CE in Chinese Merino sheep, which would pave the way for breeding disease resistance sheep in future.

• Korean Journal of Biological Psychiatry
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• v.12 no.2
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• pp.196-206
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• 2005

Objectives:The purpose of this study is to evaluate the pathophysiology of alcoholics by investigating the differences in frequency of Aldehyde Dehydrogenase 2(ALDH2) genotypes and ALDH2 alleles between patients with alcohol dependence and controls, and the differences of drinking and personality traits in Korean male alcoholics with ALDH2 genotype variances. Methods:The authors selected 98 patients with alcohol dependence and 53 controls. Self-report questionnaires for acute reponses after alcohol ingestion, the AUI(Alcohol Use Inventory), and the NEO-PI-R(NEO Personality Inventory Revised) were given to all patients with alcohol dependence. ALDH2 genotypes were typed with MboII RFLP(Restriction Fragment Length Polymorphism) method in 53 controls and 98 patients with alcohol dependence. The authors divided alcoholic patients into two groups according to the presence of variant $ALDH2^2$ allele;normal ALDH2 alcoholics(N=87) and variant ALDH2 alcoholics(N=11). Results:1) The genotypic frequencies of subjects with $ALDH2^{1/1}$ were higher and those with $ALDH2^{1/2}$ and $ALDH2^{2/2}$ were lower in patients than in controls. 2) Alcohol dependence could be found in $ALDH2^{2/2}$ homozygote individuals. 3) Variant ALDH2 alcoholics had more family problems in the AUI than normal ALDH2 alcoholics. 4) Variant ALDH2 alcoholics experienced more flushing and cardiovascular responses after alcohol ingestion than normal ALDH2 alcoholics. 5) Variant ALDH2 alcoholics had less altruistic personality traits in the NEO-PI-R than normal ALDH2 alcoholics. 6) Variant ALDH2 alcoholics tended to have more tolerance to alcohol than normal ALDH2 alcoholics. Conclusion:Variant $ALDH2^2$ allele might play a protective role in the pathogenesis of alcohol dependence and there were several significant differences of drinking and personality traits in Korean male alcoholics with ALDH2 genotype variances.