• Asian Pacific Journal of Cancer Prevention
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• v.15 no.10
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• pp.4319-4323
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• 2014

Background: Phospholipase C epsilon 1 (PLCE1) encodes a member of the phospholipase family of proteins that play crucial roles in carcinogenesis and progression of several cancers including esophageal cancer (EC). In two large scale genome-wide association studies (GWAS) single nucleotide polymorphisms (SNP, rs2274223A>G, rs3765524C>T) in PLCE1 were identified as novel susceptibility loci of esophageal cancer (EC) in China. The aim of the present study was to investigate this finding in Kashmir Valley, a high risk area. Materials and Methods: We determined genotypes of three potentially functional SNPs (rs2274223A>G, rs3765524C>T and rs7922612C>T) of PLCE1 in 135 EC patients, and 195 age and gender matched controls in Kashmiri valley by PCR RFLP method. Risk for developing EC was estimated by binary logistic regression using SPSS. Results: The selected PLCE1 polymorphisms did not show independent association with EC. However, the $G_{2274223}T_{3765524}T_{7922612}$ haplotype was significantly associated with increased risk of EC (OR=2.92; 95% CI=1.30-6.54; p=0.009). Smoking and salted tea proved to be independent risk factors for EC. Conclusions: Genetic variations in PLCE1 modulate risk of EC in the high risk Kashmiri population.

• Journal of Life Science
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• v.20 no.12
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• pp.1758-1763
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• 2010

Osteoporosis is a complex systemic skeletal disease and a major public health concern worldwide. It is a heritable disorder characterized mainly by low bone density and/or low trauma osteoporotic fractures, both of which have strong genetic determination. However, the specific genetic variants determining risk for low bone density are still largely unknown. Here, we performed association analysis to elucidate the possible relationship between genetic polymorphisms in the SQSTM1 gene and low bone density. By examining a total of 7225 (men: 3622, women: 3603) subjects from the Korean population in the Korean Association REsource (KARE) study, we discovered that SQSTM1 gene polymorphisms were associated with bone density. The results of the BD-RT (bone density estimated by T-score at distal radius) showed that three SNPs (rs513235, rs3734007, and rs11249661) within the SQSTM1 gene were significantly associated with bone density. The results of the BD-TT (bone density estimated by T-score at midshaft tibia) showed that four SNPs (rs513235, rs3734007, rs2241349, and rs11249661) were significantly associated with bone density. The three SNPs (rs513235, rs3734007, and rs11249661) had common significance in both BD-RT and BD-TT. In summary, we found statistically significant SNPs in the SQSTM1 gene that are associated with bone density traits. Therefore, our findings suggest SQSTM1 gene could be related to pathogenesis of osteoporosis.

• Nutrition Research and Practice
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• v.5 no.6
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• pp.527-532
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• 2011

ESR1 has been listed in the Human Obesity Gene Map as candidate gene associated with obesity. Thus, in this study, we investigated the effect of the ESR1 rs1884051 polymorphism on obesity-related variables, together with their modulations by dietary intake in Korean men. The obesity-related variables and dietary intake of 3,039 Korean men aged 40-59 years from KoGES database were analyzed. Body weight (P = 0.007), BMI (P = 0.003), waist-hip ratio (= 0.011), fat body mass (P = 0.010), and body fat percentage (P = 0.040) were significantly lower in subjects with the minor T allele of ESR1 rs1884051 than in subjects carrying the C allele. Moreover, the rs1884051 T allele was associated with a decreased risk of obesity prevalence (P = 0.040). Among the subjects whose total energy intake was below the median, carrier of the minor T allele of ESR1 rs1884051 had a lower BMI (P = 0.003) when compared with subjects carrying the C allele. In addition, among subjects whose plant protein intake was above the median, carrier of the minor T allele of ESR1 rs1884051 had a lower BMI (P = 0.044) compared with subjects carrying the C allele. Our findings demonstrate that there is a significant association between the ESR1 rs1884051 variant and obesity-related variables and this association can be potentially modified by dietary energy and plant protein intake.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.6
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• pp.3443-3447
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• 2013

Aim: Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide. The 5 year survival rate for esophageal cancer patients is very poor and accounts for only 12.3%. Besides environmental risk factors, genetic factors might play an important role in the esophageal cancer carcinogenesis. Methods: We conducted a hospital based case-control study to evaluate the genetic effects of functional single nucleotide polymorphisms (SNPs): interleukin 9 (IL9) rs31563 C>T, IL9 rs31564 G>T, IL10 rs1800872 T>G, IL12A rs2243115 T>G, IL12B rs3212227 T>G and IL13 rs1800925 C>T on the development of esophageal cancer. A total of 380 esophageal squamous cell carcinoma (ESCC) cases and 380 controls were recruited for this study. The genotypes were determined using a custom-by-design 48-Plex SNPscan$^{TM}$ Kit. Results: The IL10 rs1800872 T>G polymorphism was associated with an increased risk of ESCC. However, there were no significant links with the other five SNPs. Stratified analyses indicated no significant risk of ESCC associated with the IL10 rs1800872 T>G polymorphism evident among any subgroups. Conclusion: These findings indicated that functional polymorphism IL10 rs1800872 T>G might contribute to ESCC susceptibility. However, our results were obtained with a limited sample size, so that the power of our analysis was low. Future larger studies with more rigorous study designs of other ethnic populations are required to confirm the current findings.

• Genomics & Informatics
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• v.6 no.3
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• pp.99-109
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• 2008

Protein phosphorylation at tyrosine residues is a key regulatory event that modulates insulin signal transduction. We studied the PTPN1 gene with regard to susceptibility to Korean type 2 diabetes mellitus (T2DM) and its related quantitative traits. A total of seven SNPs [g.36171G>A (rs941798), g.58166G>A (rs3787343), g.58208A>G (rs2909270), g.64840C>T (rs754118), g.69560C>G (rs6020612), g.69866G>A (rs718050), and g.69934T>G (rs3787343)] were selected based on frequency (>0.05), linkage disequilibrium (LD) status, and haplotype tagging status. We studied the seven SNPs in 483 unrelated patients with type 2 diabetes (age: $64{\pm}2.8$ years, onset age: $56{\pm}8.1$ years; 206 men, 277 women) and 1138 nondiabetic control subjects (age: $64{\pm}2.9$; 516 men, 622 women). The SNP rs941798 had protective effects against T2DM with an odds ratio of 0.726 (C.I. $0.541{\sim}0.975$) and p-value=0.034, but none of the remaining six SNPs was associated with T2DM. Also, rs941798 was associated with blood pressure, HDL cholesterol, insulin sensitivity. rs941798 also has been associated with T2DM in previous reports of Caucasian-American and Hispanic-American populations. This is the first report that shows an association between PTPN1 and T2DM in the Korean as well as Asian population.

• International Journal of Oral Biology
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• v.37 no.2
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• pp.57-62
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• 2012

The nasal cavity encounters various irritants during inhalation such as dust and pathogens. To detect and remove these irritants, it has been postulated that the nasal mucosa epithelium has a specialized sensing system. The oral cavity, on the other hand, is known to have bitter taste receptors (T2Rs) that can detect harmful substances to prevent ingestion. Recently, solitary chemosensory cells expressing T2R subtypes have been found in the respiratory epithelium of rodents. In addition, T2Rs have been identified in the human airway epithelia. However, it is not clear which T2Rs are expressed in the human nasal mucosa epithelium and whether they mediate the removal of foreign materials through increased cilia movement. In our current study, we show that human T2R receptors indeed function also in the nasal mucosa epithelium. Our RT-PCR data indicate that the T2R subtypes (T2R3, T2R4, T2R5, T2R10, T2R13, T2R14, T2R39, T2R43, T2R44, T2R 45, T2R46, T2R47, T2R48, T2R49, and T2R50) are expressed in human nasal mucosa. Furthermore, we have found that T2R receptor activators such as bitter chemicals augments the ciliary beating frequency. Our results thus demonstrate that T2Rs are likely to function in the cleanup of inhaled dust and pathogens by increasing ciliary movement. This would suggest that T2Rs are feasible molecular targets for the development of novel treatment strategies for nasal infection and inflammation.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.3
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• pp.1847-1850
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• 2013

We conducted a hospital case-control study by genotyping four potential functional single nucleotide polymorphisms (SNPs) to assess the association of Xeroderma pigmentosum complementation group F (XPF) with gastric cancer susceptibility, and role of XPF polymorphisms in combination with H.pylori infection in risk definition. A total of 331 patients with gastric cancer and 355 controls were collected. Four SNPs of XPF, rs180067, rs1799801, rs2276466 and rs744154, were genotyped by Taqman real-time PCR method with a 7900 HT sequence detector system. The gastric cancer patients were more likely to have smoking habit, a family history of cancer and H.pylori infection. We did not find any significant difference in the genotype distributions of XPF rs180067, rs1799801, rs2276466 and rs744154 between cases and controls. However, multivariate logistic analysis showed a non-significant decreased risk in patients carrying rs180067 G allele, rs1799801 T allele or rs2276466 T allele genotypes. A non-significant increased risk of gastric cancer was found in individuals carrying the rs744154 GG genotype. Stratification by H.pylori infection and smoking was not significantly different in polymorphisms of XPF rs180067, rs1799801, rs2276466 and rs744154. The four XPF SNPs did not show significant interaction with H.pylori infection and smoking status (P for interaction was 0.35 and 0.18, respectively). Our study indicated that polymorphisms in rs180067, rs1799801, rs2276466 and rs744154 may affect the risk of gastric cancer but further large sample size studies are needed to validate any association.

• Journal of Mushroom
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• v.16 no.3
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• pp.225-230
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• 2018

This study was conducted to reuse spent mushroom substrates (SMS) of Pleurotus ostreatus and improve their nitrogen content by bacterial treatment. Two kinds of bacteria were used to investigate the increase in total nitrogen (T-N) content. Bacillus sp. (GM20-4) was isolated from SMS of oyster mushroom, and Rhodobacter sphaeroides (RS) was obtained from Gwangju Si Agricultural Technology Center. SMS samples were collected from three oyster mushroom cultivation farms located in Gyeonggi-do province, Korea. When dried SMS was inoculated with 30% culture broth of GM20-4 and RS and incubated at room temperature ($25{\pm}2^{\circ}C$) for 5 days, T-N content increased. To investigate the T-N content of other SMS, three dried SMS samples (A, B, and C) were treated by the same method using GM20-4 and RS. As a result, the T-N content of sample B was 20% higher than that of the control, whereas the T-N content of samples A and C increased to 17% and 12%, respectively. The change in T-N content by bacterial treatment of wet SMS was slightly higher than that of the control. The changes in amino acid content were also found to be higher than those in the control in all SMS samples by GM20-4 and RS treatment. Aspartic acid and glutamic acid contents were the highest among all amino acid compositions. Especially, the aspartic and glutamic acid contents of sample B increased by 2.9 folds higher than the control.

• Genomics & Informatics
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• v.20 no.4
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• pp.42.1-42.11
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• 2022

Breast cancer (BC) is a significant threat to female health, with both modifiable and non-modifiable risk factors. It is essential to monitor patients regularly and to raise population awareness. Increasing research also suggests that E-selectin (SELE) may increase tumor angiogenesis and the development of cancer. This study investigated SELE single-nucleotide polymorphisms (SNPs) in the following positions: rs5367T/C, rs5368C/T, rs5362T/G, and rs5362T/C. Using polymerase chain reaction, significant differences in allele and genotype frequencies were found between BC patients and controls. Position rs5368 was associated with an increased risk of BC for the CT and TT genotypes, with odds ratios (ORs) of 16.3 and 6.90 (Fisher probability = 0.0001, p = 0.005). Women with the T allele had a 19.3-fold higher incidence of BC, while allele C may be a protective allele against BC (OR, 0.05). Heterozygous genotypes at rs5367, rs5362, and rs5362 were significantly more common in BC patients, with ORs of 5.70, 4.50, and 3.80, respectively. These SNPs may be associated with the risk of BC, because the frequency of mutant alleles was significantly higher in patients (OR: 4.26, 3.83, and 4.30, respectively) than in controls (OR: 0.23, 0.30, and 0.20, respectively). These SNPs may be considered a common genotype in the Iraqi population, with the wild-type allele having a protective fraction and the mutant allele having an environmental fraction. The results also revealed a 2-fold increase in gene expression in BC patients compared to controls, with a significant effect (p = 0.017). This study's findings confirm the importance of SELE polymorphisms in cancer risk prediction.

• Animal Bioscience
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• v.36 no.9
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• pp.1357-1366
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• 2023

Objective: This study aimed to identify the single-nucleotide polymorphisms (SNPs) in the dual-specificity phosphatase 8 (DUSP8) and insulin-like growth factor 2 (IGF2) genes and to explore their effects on inosine-5'-monophosphate (IMP), inosine, and hypoxanthine contents in Korean native chicken -red-brown line (KNC-R Line). Methods: A total sample of 284 (males, n = 127; females n = 157) and 230 (males, n = 106; females, n = 124) aged of 10 weeks old KNC-R line was used for genotyping of DUSP8 and IGF2 genes, respectively. One SNP (rs313443014 C>T) in DUSP8 gene and two SNPs (rs315806609A/G and rs313810945T/C) in IGF2 gene were used for genotyping by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and KASP methods, respectively. The Two-way analysis of variance of the R program was used to associate DUSP8 and IGF2 genotypes with nucleotide contents in KNC-R chickens. Results: The DUSP8 (rs313443014 C>T) was polymorphic in KNC-R line and showed three genotypes: CC, CT, and TT. The IGF2 gene (rs315806609A/G and rs313810945T/C) was also polymorphic and had three genotypes per SNP, including GG, AG, and AA for the SNP rs315806609A/G and genotypes: CC, CT, and TT for the SNP rs313810945T/C. Association resulted into a strong significant association (p<0.01) with IMP, inosine, and hypoxanthine. Moreover, the significant effect of sex (p<0.05) on nucleotide content was also observed. Conclusion: The SNPs in the DUSP8 and IGF2 genes might be used as genetic markers in the selection and production of chickens with highly flavored meat.