• Tuberculosis and Respiratory Diseases
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• v.54 no.5
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• pp.485-494
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• 2003

Background : Most previous studies regarding the role of GSTMl and GSTT1 on lung cancer risk have been focused mainly on male smokers. However, epidemiological characteristics, histologic types and risk factors are different in female and male lung cancers, we investigated the association between these genotypes and lung cancer risk in males and females separately. Materials and Methods : The study population consisted of 253 lung cancer (153 males and 100 females) and 243 controls (140 males and 103 females). GSTM1 and GSTT1 genotypes were determined by a multiplex PCR. Results : In the male population, neither GSTM1 nor GSTT1 null genotype showed significant difference between cases and controls. In the female population, the frequencies of GSTM1 null genotype showed no significant difference between cases and controls. However, the frequencies of GSTT1 null genotype was significantly higher in cases (70.3%) than controls (55.3%, odds ratio (OR)=2.18; 95% confidence interval (CI=l.21-3.93). When the female population was stratified by age and smoking status, the ORs for GSTT1 null genotype were significantly higher in subgroups of ${\leq}60$ years (OR=4.82; 95% CI=l.61-14.4) and never-smokers (OR=4.29; 95% CI=1.94-9.48) but not in subgroups of >60 years or smokers. When stratifying the female never-smokers by age, the ORs for GSTT1 null genotype were significantly higher in both age groups of ${\leq}60$ years (OR=7.64; 95% CI=2.00-29.2) and >60 years (OR=2.89; 95% CI=1.05-7.94). Conclusion : We found that GSTT1 null genotype was associated with an increased risk of lung cancer in Korean female never-smokers. This result suggests that GSTT1 null genotype could be used as a biomarker for genetic susceptibility to lung cancer in Korean female never-smokers.

• Korean Journal of Biological Psychiatry
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• v.14 no.3
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• pp.167-176
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• 2007

Objectives:A considerable number of pharmacogenetic studies have been performed in recent years to define the association of antipsychotic drug response with dopamine receptor polymorphisms. The purpose of this study was to investigate the relationship between the therapeutic response to antipsychotic drugs and the polymorphisms of the dopamine D2, D3, and D4 receptor genes(DRD2, DRD3 and DRD4, respectively). Methods:We conducted retrospective chart review of 200 consecutively hospitalized patients with the diagnosis of schizophrenia(DSM-IV) who were treated with various antipsychotics(94% atypical antipsychotics) at Bugok National Hospital, Korea. The patients were divided into two groups, responders and non-responders, by responsiveness to antipsychotic drugs according to a four-point scale used in previous studies; responders included moderate to marked responded patients and non-responders included none to minimal responded patients. We analyzed the Ser311Cys polymorphism in the DRD2, the Ser9Gly polymorphism in the DRD3, and the exon III 48 bp repeat polymorphism in the DRD4. Results:Among the total patients of 200, 141(70.5%) were categorized as responders. There were no significant differences in the frequencies of the DRD2, DRD3, and DRD4 alleles and genotypes between responders and non-responders. Conclusion:These results suggest that the Ser311Cys polymorphism in the DRD2, the Ser9Gly polym- orphism in the DRD3, and the exon III 48bp repeat polymorphism in the DRD4 are not associated with the therapeutic response to antipsychotic drugs in Korean schizophrenic patients. A larger prospective study is needed to elucidate the association between antipsychotic response and dopamine receptor gene polymorphism.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8311-8317
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• 2014

Background: Evidence supporting an association between the 8q24 rs4242382-A polymorphism and prostate cancer (PCa) risk has been reported in North American and Europe populations, though data from Asian populations remain limited. We therefore investigated this association by clinical detection in China, and meta-analysis in Asian, Caucasian and African-American populations. Materials and Methods: Blood samples and clinical information were collected from ethnically Chinese men from Northern China with histologically-confirmed PCa (n=335) and from age-matched normal controls (n=347). The 8q24 (rs4242382) gene polymorphism was genotyped by polymerase chain reaction-high-resolution melting analysis. We initially analyzed the associations between the risk allele and PCa and clinical covariates. A meta-analysis was then performed using genotyping data from a total of 1,793 PCa cases and 1,864 controls from our study and previously published studies in American and European populations, to determine the association between PCa and risk genotype. Results: The incidence of the risk allele was higher in PCa cases than controls (0.222 vs 0.140, $P=7.3{\times}10^{-5}$), suggesting that the 8q24 rs4242382-A polymorphism was associated with PCa risk in Chinese men. The genotypes in subjects were in accordance with a dominant genetic model (ORadj=2.03, 95%CI: 1.42-2.91, $Padj=1.1{\times}10^{-4}$). Presence of the risk allele rs4242382-A at 8q24 was also associated with clinical covariates including age at diagnosis ${\geq}65$ years, prostate specific antigen >10 ng/ml, Gleason score <8, tumor stage and aggressive PCa, compared with the non-risk genotype ($P=4.6{\times}10^{-5}-3.0{\times}10^{-2}$). Meta-analysis confirmed the association between 8q24 rs4242382-A polymorphism and PCa risk (OR=1.62, 95%CI: 1.39-1.88, $P=1.0{\times}10^{-5}$) across Asian, Caucasian and African American populations. Conclusions: The replicated data suggest that the 8q24 rs4242382-A variation might be associated with increased PCa susceptibility in Asian, Caucasian and African American populations. These results imply that this polymorphism may be a useful risk biomarker for PCa in multi-ethnic populations.

• Korean Journal of Poultry Science
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• v.24 no.4
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• pp.169-177
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• 1997

Four experiments were conducted to investigate the association of yolk cholesterol level with egg trails, serum cholesterol level, body weight (BW) and breed differences and other variations. Athens Canadian Randombred (ACRB), a commercial layer breed (CL) and two commercial broiler breeds (BR1 and BR2) were used for this studies. Egg weight of CL was heavier by 8.7g per egg than that of ACRB, but the yolk percentage and yolk cholesterol were lower by 7.8％ per egg and 5.5mg per g yolk than those of ACRB, respectively. Yolk cholesterol content had no significant relation with the average egg weight or yolk weight in ACRB, but was significantly related with yolk fat level. However, yolk cholesterol level in CL showed inverse relationship with other egg traits compared to that of ACRB. In the CL female group, the association of yolk cholesterol level with BW was significant(P$\leq$0.05) at 25 weeks of age, but was not significant different at 26 wks of age. The relationship of yolk cholesterol with serum was not significantly different at 25 weeks of age, whereas it showed significant negative(-) correlation coefficient(P$\leq$0.01) at 26 wks of age. The association of yolk cholesterol level with egg age in CL population was not high comared to that of other treatments. The serum cholesterol content of CL was not significantly different with BR1 and BR2 populations at 25 weeks of age, but was significantly(P$\leq$0.05) higher than that of BR1 or BR2 at 26 weeks old.

• Journal of Animal Science and Technology
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• v.44 no.6
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• pp.653-660
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• 2002

We considered KIT gene as a candidate gene for the white-spotting pattern in cattle. This study was carried out to detect genetic variation of c-KIT receptor gene and to investigate association between the mutation and the white-spotting pattern in cattle. PCR-RFLP analysis within intron 6 of c-KIT receptor gene were performed with 8 cattle breeds including Hanwoo, Angus, Brown Swiss, Charolais, Hereford, Holstein, Limousin and Simmental. When PCR product of approximately 2,440 bp including intron 6 of c-KIT receptor gene was sequenced, four nucleotide substitutions were found within intron 6 of the bovine c-KIT receptor gene. In PCR-RFLP analysis, three alleles (A, B and C), two alleles (A and B) and two alleles (A and B) at each locus were identified by MspⅠ, BsrBⅠ and NdeⅠ, respectively. Although frequencies of allele at each locus were different among cattle breeds, we could not get any evidence related with white or white spotting phenotypes in these mutations on intron 6 of c-KIT receptor gene. However, we can not entirely exclude the possibility that c-KIT receptor gene is responsible for white spotting phenotype in cattle. Thus, further studies need to detect other mutations in c-KIT receptor gene and to test association of those mutations and coat color phenotypes in cattle.

• Korean Journal of Biological Psychiatry
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• v.15 no.4
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• pp.275-287
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• 2008

Depression and coronary artery disease are both highly prevalent diseases. Many previous studies suggest that depression is a common comorbid condition in patients with coronary artery disease and has a significant negative impact on the onset, course, and prognosis of coronary artery disease. However, the exact mechanisms that underlie the association between these two diseases remain unclear. Pathophysiologic mechanisms that may explain the effect of depression on coronary artery disease include hypercoagulability, hypothalamus-pituitary-adrenal axis and autonomic nervous system dysregulation, altered inflammatory response. On the contrary, pathophysiologic mechanisms in coronary artery disease that affect depression are less well known. It is also suggested that both diseases may share a common genetic vulnerability. The authors reviewed the literature on the pathophysiologic relationships of depression and coronary heart disease.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• KOREAN JOURNAL OF CROP SCIENCE
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• v.4 no.1
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• pp.115-124
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• 1968

It was shown that the most desirable characters for kenaf are high-fiber weight and moderately early maturity. Therefore, the objectives of this research on this crop is to find varieties possessing these characteristics. The experiments covered in this report provided new information relative to segregation, mode of inheritance, estimate of the number of genes involved in fiber weight and their response to short day length of 10 hours and the qualitative characters, such as, color of stem, capsule, petiole and shape of leaves. The associations which exist among these characters are also indicated. Fiber weight per plant, days to flowering, Stem color, Petiole color, Capsule color, and shape of leaves were studied in parental, $F_1$.$F_2$and backcross populations of a cross between Dashkent, a low-fiber weight but early maturing kenaf variety, and G 38 F-1, a high-fiber weight but late maturing kenaf variety. Crosses were made using the varieties, Dashkent and G 38 F-1 as parents. The Dashkent parent had the following characteristics: green stems, capsules and petioles and lobed shaped leaves; 105.8234 mean-days to flowering in the field, and 106.9222 mean-days under 10 hours short day treatment. The other parent, G 38 F-1 had red stems yellow capsules and red petioles and unlobed shaped leaves; 149.8921 mean-days to flowering in the field, and 62.3684 mean-days under 10 hours short day treatment. Both of the parents, $F_1$, $F_2$, $BC_1$ ($F_1$ X Dashkent, ) and $BC_2$($F_1$ ${\times}$ G38F-1) of the kenaf cross were grown at the Crops Experiment Station, Suwon, Korea in 1965. Color of stems, petioles and capsules, and shape of leaves were noted to be simply inherited as a single factor. Red stem color was dominant over green stem color, red petiole color was dominant over green petiole, lobed shaped leaves were dominant over unlobed shaped leaves and yellow capsules were dominant over green capsule. It was, also, noted that the factor for color of petiole was linked with the factor for shape of leaf with a 11.9587 percent recombination value, however no interaction or linkage were found among the color of stem and capsule color. Using Powers partitioning method, theoretical means and frequency distributions for each population, the days to flowering were calculated with the assumption that two gene pairs were involved. The values obtained fitted the theoretical values. In general this would indicate that Dashkent and G 38 F -1 were differentiated by two gene pairs. Heritability values were calculated as the percent of additive genetic variance. Heritability value of days to flowering, 89.5% in the broad sense and 79.91% in the narrow sense, indicated that the selection for this character would be effective in relatively early generations. Particularly, high positive correlations were found between days to flowering and the color of petioles and shape of leaves. However, there was no relation between days to flowering and capsule color nor between these and stem color. On the basis of the results of this experiment there is evidence that the hereditary factor for shape of leaves and the color of petioles is linked with an effective factor or factors for the characters of days to flowering. The association was sufficiently close to offer a possible simple and efficient means of selection for moderately early mat. uring plants by leaf shape and petiole color selection. Again using Powers partitioning method the frequency distribution for each population to the fiber weight were calculated with the assumption that two gene pairs, AaBb, were involved. Both phenotypic and genotypic dominance were complete. The obtained value did not agree with the theoretical value for $F_2$ and $BC_1$ ($F_1$ ${\times}$ Dashkent.) It seems that Dashkent and G 38 F-1 were differentiated by two major gene pairs but some the other minor genes are necessary. It is certain that the hereditary factor for shape of leaves and color of petioles is linked with an effective factor or factors for fiber weight. Also, high. yielding plants with moderately early maturity were found in the $F_2$ population. Thus, simultaneous selection for high-fiber yield and moderately early maturing plants should be possible in these populations. Phenotypic and genotypic correlation coefficients between fiber weight per plant and days to flowering, stem height and stem diameter were calculated. In general, genotypic correlations are higher than the phenotypic correlation. The highest correlation is found between stem height and fiber weight per plant (0.7852 in genotypic and 0.4103 in phenotypic) and between days to flowering and fiber weight per plant (0.7398 in genotypic and 0.3983 in phenotypic.) It was also expected that the selection of high stem height and moderately early maturing plants were given the efficient means of selection for high fiber weight.