PURPOSE: The beta-adrenoceptors are pharmacologically classified into beta1-, beta2- and beta3-adrenoceptor. The gene of each subtype has polymorphisms related to their function (beta1-adrenoceptor: Ser49Gly, beta2- adrenoceptor: Gln27Glu, beta3-adrenoceptor: Trp64Arg). The objectives of this study were to analyse the allelic and genotypic distribution of the representative polymorphism of beta-adrenoceptors in preeclampsia and to investigate whether combined genotype of beta-adrenoceptors may be associated with preeclampsia. METHODS: Blood samples were collected from a Korean population (159 preeclamptic pregnancies and 168 normotensive pregnancies). The beta1-, beta2- and beta3-adrenoceptor genotypes was determined using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: There were no differences in allelic and genotypic distribution of beta1- and beta2-adrenoceptor polymorphisms between the two groups. However, the Arg allele of beta3-adrenoceptor polymorphism were more frequent in preecalmpsia than in controls (P<0.05, OR=1.57, 95% CI=1.01-2.46). Moreover, prevalence of genotype carrying heterozygote of beta3-adrenoceptor polymorphism was increased in preeclampsia compared with controls (P<0.05, OR 1.76, 95% CI 1.06-2.92). When combination of the three polymorphisms were evaluated, pregnancies with the particular combined genotype that is consisted of heterozygote of beta1-, beta3-adrenoceptor and wild homozygote of beta2-adrenoceptor (Ser/Gly, Gln/Gln, Trp/Arg), showed a significant increase in the risk of preeclampsia (P<0.05, OR=3.01, 95% CI 1.12-8.08). CONCLUSION: A particular combined genotype (Ser/Gly, Gln/Gln, Trp/Arg) of - adrenoceptors was associated with the risk of preeclampsia.
Alleles ; Genotype ; Heterozygote ; Homozygote ; Pre-Eclampsia* ; Pregnancy ; Prevalence ; Receptors, Adrenergic

BACKGROUND: The tumor necrosis factor (TNF) is believed to play an important role in the pathophysiology of osteoarthritis (OA). Evidence shows that genetic polymorphisms make substantial contributions to the etiology of OA. METHODS: We investigated the genotypes TNF-alpha and TNF-beta in 301 OA patients and 291 healthy subjects as controls. We employed a polymerase chain reaction-restriction fragment length polymorphism and a polymerase chain reaction-single strand conformation polymorphism assay to identify the genotypes TNFA -G308A and TNFB +G252A, respectively. RESULTS: For TNFA -G308A, the percentages of genotypes GG, AG, and AA were 26.3% (79/301), 62.5% (188/301), and 11.3% (34/301) in OA patients and 88.7% (258/291), 11.3% (33/291), and 0% (0/291) in controls. For TNFB +G252A, the percentages of genotypes GG, AG, and AA were 15.3% (46/301), 41.9% (126/301), and 42.9% (129/301) in OA patients and 12% (35/291), 52.6% (153/291), and 35.4% (103/291) in controls. There were significant differences in genotypes and alleles of TNFA -308 between OA patients and controls (p<0.0001) and in alleles of TNFB +252 (p=0.0325). The risk of OA was significantly higher for carriers of the TNFA -308A allele and the TNFB +252 AA homozygote (p=0.0224). CONCLUSIONS: The results suggest close relationships between TNFA -G308A and TNFB +G252A polymorphisms and individual susceptibility to OA in the Korean population.
Alleles ; Genetic Predisposition to Disease ; Genotype ; Homozygote ; Humans ; Lymphotoxin-alpha ; Osteoarthritis ; Polymorphism, Genetic ; Tumor Necrosis Factor-alpha

OBJECTIVES: Recent studies suggest that brain-derived neurotrophic factor (BDNF) may play a critical role in both mechanism of antidepressant action and the pathophysiology of major depressive disorder (MDD). The aim of this study is to evaluate whether the BDNF-gene Val66Met polymorphism is associated with susceptibility of MDD, and antidepressant response in a Korean population. METHODS: To explain genetic susceptibility of MDD, we genotyped the BDNF-gene Val66Met polymorphism in 137 patients with MDD and 91 age- and sex-similar control subjects. we also examined the association of the BDNF-gene Val66Met polymorphism and therapeutic response in 137 MDD patients who received a 6-week Selective Serotonin Reuptake Inhibitor (SSRI) treatment. RESULTS: There were no significant differences in the genotype or allele frequency of the BDNF polymorphism, between the MDD and control subjects. Furthermore, no significant differences were noted in the three-genotype groups (Val/Val, Val/Met, Met/Met) between responders and non-responders. However, heterozygous patients (Val/Met) in comparison to homozygous analogs (Val/Val or Met/Met) in BDNF polymorphism tended to have more improved 6-week antidepressant response (p=0.053). In addition, higher total HAM-D-score percentage change after 6 weeks of antidepressant medication was demonstrated for the heterozygote patients in comparison to homozygous analogs (p=0.006). CONCLUSION: This finding suggests the BDNF polymorphism is associated with improved therapeutic SSRI response for patients bearing the BDNF Val/Met heterozygote in comparison to the homozygous analogs.
Brain-Derived Neurotrophic Factor ; Depressive Disorder, Major ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; Polymorphism, Genetic ; Serotonin ; Ursidae

BACKGROUND/AIMS: p53 gene plays an important role in cell cycle control in response to DNA damage which may increase the probability of mutations leading to carcinogenesis. The role of p53 gene polymorphisms [codon 72 (exon 4) and 16-bp duplication (intron 3)] as potential markers indicating cancer risk remains inconclusive, and the data on gastric cancer are very limited. The aim of this study was to assess the role of p53 gene polymorphisms in the risk of gastric cancer and in the determination of genetic susceptibility to gastric cancer in Koreans. METHODS: We analysed p53 genotypes using a polymerase chain reaction-based restriction fragment length polymorphism assay in a population-based case-control study in 120 gastric cancer patients and 145 cancer-free controls in Koreans. RESULTS: There was no specific genotype of p53 gene polymorphism in the gastric cancer patients compared to cancer-free controls. In p53 codon 72 and 16-bp duplication polymorphisms, the frequency and distribution of genotypes showed no statistical significance (p=0.7125 and p=0.1659). There was no difference in genotype by histologic subtypes, location of lesion, and age. However, the genotypic distribution in the patient subgroups with a history of heavy cigarette smoking of p53 16-bp duplication polymorphism were significantly different from those of cancer-free controls (p=0.0079). CONCLUSIONS: The p53 codon 72 and 16-bp duplication polymorphisms were not associated with the increased risk of gastric cancer and did not seem to contribute to gastric cancer susceptibility among Koreans. It is possible that p53 16-bp duplication polymorphism modulates the risk of smoking-induced gastric cancer development in Koreans. In order to clarify the associations between specific genotypes and gastric cancer risk, the evaluations of these polymorphisms in other ethnic backgrounds with larger number of patients would be needed.
Adult ; Aged ; Case-Control Studies ; Codon ; Data Interpretation, Statistical ; Female ; *Genes, p53 ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Homozygote ; Humans ; Korea ; Male ; Middle Aged ; *Polymorphism, Restriction Fragment Length ; Stomach Neoplasms/*genetics/pathology ; Tandem Repeat Sequences/*genetics

OBJECTIVES: Recently, there has been a growing enthusiasm in biological approach to personality; the identification of genes responsible for particular personality traits. The aim of this study was to investigate the association between the 5-HT1Dbeta G861C polymorphism and personality traits. METHODS: We recruited 218 normal subjects. The Korean version of the Temperament and Character Inventory (TCI) was used to assess personality traits. From blood samples taken from the subjects, DNA was isolated using standard techniques and the HT1Dbeta G861C polymorphism was genotyped by means of polymerase chain reaction and Homogeneous MassEXTEND method. We classified the subject into the GG, CG, and GG groups according to their genotypes. The differences in the temperament factors of the TCI between homozygote group (GG+CC genotype) and heterozygote group (CG genotype) were tested. RESULTS: The heterozygote group had significantly lower Harm avoidance (HA) scores and higher Self-directedness scores (SD) than the homozygote group. CONCLUSION: In conclusion, we found some associations between the 5-HT1Dbeta G861C polymorphism and the personality dimension HA and SD in a normal population.
DNA ; Genotype ; Heterozygote ; Homozygote ; Polymerase Chain Reaction ; Receptor, Serotonin, 5-HT1B* ; Temperament

PURPOSE: Endometriosis is a steroid dependent disease with a particular genetic background but the location of possible genomic aberrations are still poorly clarified. This study was designed to investigate the associations between the polymorphism of the progesterone receptor gene (PROGINS) and endometriosis. METHODS: 100 women with surgically diagnosed and histologically confirmed endometriosis were enrolled as a patient population and a total of 110 female control subjects undergoing health examination were enrolled as control population. DNA extraction and polymerase chain reaction (PCR) were used to genotype women for the presence of the PROGINS polymorphism in peripheral blood samples. The x2-test was used to compare genotype distributions between endometriosis and controls. RESULTS: T1/T2 heterozygote was found to be one patient in each group, and the rest of the subjects were all T1/T1 homozygotes. There was no difference in the genotype distribution between the endometriosis group and the control group. CONCLUSION: These results suggest that the progesterone receptor gene PROGINS is not associated with the risk for endometriosis.
DNA ; Endometriosis* ; Female ; Genotype ; Heterozygote ; Homozygote ; Humans ; Polymerase Chain Reaction ; Progesterone* ; Receptors, Progesterone*

OBJECTIVE: It is suggested that disturbance of dopaminergic system might be related to the possible mechanism of social phobia. The aim of this study was to investigate the possible association of DRD2 TaqI polymorphism and social phobia. METHOD: Fifty-one patients with social phobia and 200 comparison subjects were tested for DRD2 TaqI A polymorphism. The severity of social phobic symptoms was measured by self-report version of the Liebowitz Social Anxiety Scale(LSAS-SR) and Hamilton anxiety scale(HAM-A). RESULTS: There was no signigicant difference in the genotype, allele frequency, A1 carrier frequency, and heterozygote frequency DRD2 TaqI A polymorphism between the social phobia patients and the control groups. However, we found significant decrease in somatic anxiety of the HAM-A in the patients having A2A2 homozygotes(p=0.014). In addition, patients having A1A2 heterozygotes showed more anxiety in two subscales(p=0.042 in anxiety, p=0.019 in performance) of the LSAS-SR. CONCLUSION: These results suggest that DRD2 A2 homozygote might have a protective role against somatic anxiety, and molecular heterosis of DRD2 TaqI A polymorphism might be related with more severe anxiety in social phobia.
Anxiety ; Dopamine* ; Gene Frequency ; Genotype ; Heterozygote ; Homozygote ; Humans ; Hybrid Vigor ; Phobic Disorders* ; Receptors, Dopamine D2*

OBJECTIVETo investigate the association between metabolic enzymes polymorphisms and the risk of colorectal cancer(CRC).

METHODSMethods of detection used were based on polymerase chain reaction(PCR) including PCR-restriction fragment length polymorphism (PCR-RFLP), allele specific-PCR (AS-PCR) and multiple-PCR to identify the polymorphisms of CYP1A1 6235T/C, CYP1A2 734C/A, CYP2E1 -1259G/C, CYP2E1 -1019C/T, GSTM1 and T1 null type, NAT1 and NAT2 alleles among 140 cases and 343 cancer-free controls.

RESULTSThe allele frequencies of CYP1A1 6235C, CYP1A2 734A, CYP2E1 -1259C, CYP2E1 -1019T, GSTM1 and T1 null type, NAT1* 10 and NAT2 Mx (x = 1,2,3) alleles were 31.65%, 63.77%, 23.02%, 32.61%, 57.25%, 17.39%, 26.45% and 39.21% in the case group and 39.85%, 66.62%, 20.27%, 28.61%, 55.46%, 20.35%, 25.22% and 39.36% in control group, respectively. The frequencies were in Hardy-Weinberg equilibrium. Data on single genetic polymorphism and stratification analysis of multi-genetic polymorphisms indicated that CYP1A1 6235CC homozygote was associated with the significant reduction of CRC risk (OR = 0.79, 95% CI: 0.63-0.99) and in individuals with CYP1A2 734A allele. CYP1A1 62345C allele had the same effect (OR = 0.53, 95% CI: 0.34-0.83). However, individuals with GSTT1 null genotype, GSTM1 null genotype could significantly increase the risk (OR = 4.41, 95% CI: 1.21-16.10).

CONCLUSIONCYP1A1 6235C allele might play an important role in fighting against colorectal carcinogenesis. However, GSTM1 and T1 null genotype might serve as risk factors genetically. Larger scale population-based studies were needed to confirm the current findings.

Alleles ; Case-Control Studies ; Colorectal Neoplasms ; enzymology ; genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Homozygote ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic

OBJECTIVE: To explore the cause of inconsistent genotypes for an α-thalassemia carrier by using two commercial genotyping kits. METHODS: GAP-PCR and PCR-reverse dot blotting (PCR-RDB) were employed to determine the genotype of the carrier, while Sanger sequencing was used to verify the results. RESULTS: Sequencing analysis demonstrated that the subject has carried a α1 globin gene with a 3.7 kb heterozygous deletion. In addition, two novel mutations, IVS-II-55(T>G) and IVS-II-119(G>TCGGCCC), were found in intron 2 of α2 globin gene. CONCLUSION The two mutations located in the binding regions of PCR primers have caused failure of PCR amplification and misreading of the genotype. Combination of clinical and hematological phenotypes is indispensible to infer the genotype of carriers for accurate diagnosis.
Genotype ; Heterozygote ; Humans ; Mutation ; alpha-Thalassemia ; genetics

The PIK3CA gene, oncogenic gene located on human chromosome 3q26.3, is an important regulator of cell proliferation, death, motility and invasion. To evaluate the role of PIK3CA gene in the risk of Korean lung cancer, genotypes of the PIK3CA polymorphisms (rs11709323, rs2699895, rs3729679, rs17849074 and rs1356413) were determined in 423 lung cancer patients and 443 normal controls. Statistical analyses revealed that the genotypes and haplotypes in the PIK3CA gene were not significantly associated with the risk of lung cancer in the Korean population, suggesting that these PIK3CA polymorphisms do not contribute to the genetic susceptibility to lung cancer in the Korean population.
Cell Proliferation ; Chromosomes, Human ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Lung ; Lung Neoplasms