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PubMed2003

Prediction of survival in surgical unresectable lung cancer by artificial neural networks including genetic polymorphisms and clinical parameters.

Lung cancer, a common malignancy in Taiwan, involves multiple factors, including genetics and environmental factors. The survival time is very short once cancer is diagnosed as being in advanced stage and surgically unresectable. Therefore, a good model of prediction of disease outcome is important for a treatment plan. We investigated the survival time in advanced lung cancer by using computer science from the genetic polymorphism of the p21 and p53 genes in conjunction with patients' general data. We studied 75 advanced and surgical unresectable lung cancer patients. The prediction of survival time was made by comparing real data obtained from follow-up periods with data generated by an artificial neural network (ANN). The most important input variable was the clinical staging of lung cancer patients. The second and third most important variables were pathological type and responsiveness to treatment, respectively. There were 25 neurons in the input layer, four neurons in the hidden layer-1, and one neuron in the output layer. The predicted accuracy was 86.2%. The average survival time was 12.44 +/- 7.95 months according to real data and 13.16 +/- 1.77 months based on the ANN results. ANN provides good prediction results when clinical parameters and genetic polymorphisms are considered in the model. It is possible to use computer science to integrate the genetic polymorphisms and clinical parameters in the prediction of disease outcome. Data mining provides a promising approach to the study of genetic markers for advanced lung cancer.

Adult↗
PubMed2006

[Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C].

OBJECTIVE: To explore the relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphism of MTHFR C677T and A1298C in Chinese population. METHODS: Case-control study design was employed. MTHFR genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism techniques (PCR-RFLP). RESULTS: As to MTHFR C677T, 48 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 0. 02, P > 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 9.91, P < 0.05). As to MTHFR A1298C, 27 heterozygous parents with an affected child were analyzed through case-parental control study using TDT (chi2 = 4.00, P < 0.05). The genotype frequency and allele frequency of 76 NSCL/P cases and 60 controls were analyzed through case-control study (chi2 = 4.42, P < 0.05). CONCLUSIONS: The genetic polymorphism of MTHFR C677T is associated with the development of NSCL/P, and the genetic polymorphism of MTHFR A1298C is a risk factor for NSCL/P in the Chinese population.

Asian People↗
PubMed2006

Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.

Family, twin, and adoption studies have demonstrated that genes play an important role in the development of alcoholism. We investigated the association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. The genotype of the GABAA receptor gene polymorphisms were determined by performing polymerase chain reaction genotyping for 172 normal controls and 162 male alcoholics who are hospitalized in alcoholism treatment institute. We found a significant association between the genetic polymorphisms of the GABAA alpha1 and GABAA alpha6 receptor gene and alcoholism. The GG genotype of the GABAA alpha1 receptor gene was associated with the onset age of alcoholism and alcohol withdrawal symptoms, and a high score on the Korean version of the ADS. However, there was no association between the genetic polymorphisms of the GABAA beta2 and gamma2 receptor gene and alcoholisms. Our finding suggest that genetic polymorphisms of the GABAA alpha1 and GABAA alpha6 receptor gene may be associated with the development of alcoholism and that the GG genotype of the GABAA alpha1 receptor gene play an important role in the development of the early onset and the severe type of alcoholism.

Adult↗
PubMed2003

[Analysis on genetic polymorphism of 14 short tandem repeat loci on chromosome 7p14-15 and 12q13 in Chinese north Hans].

OBJECTIVE: To analyze the genetic polymorphism of 6 short tandem repeat (STR) loci on chromosome 7p14-15 and 8 STR loci on chromosome 12q13 in Chinese north Hans. METHODS: Fluorescence-labeling polymerase chain reaction and capillary electrophoresis were used to analyze the genetic polymorphism of 100 randomly selected individuals from Chinese north Han nationality at 6 STR loci (D7S1808, D7S2250, D7S2251, D7S683, D7S656 and D7S528) on chromosome 7p14-15 and 8 STR loci(D12S1056, D12S1293, D12S83, D12S1655, D12S1662, D12S334, D12S137 and D12S102) on chromosome 12q13. RESULTS: In the Chinese north Han population, 7 alleles and 24 genotypes, 8 alleles and 27 genotypes, 7 alleles and 22 genotypes, 4 alleles and 10 genotypes, 6 alleles and 17 genotypes, 5 alleles and 13 genotypes were observed at D7S1808, D7S2250, D7S2251, D7S683, D7S656 and D7S528. The heterozygosities at the above 6 STR loci were 86%, 88%, 83%, 79%, 85% and 80%, respectively. Five alleles and 15 genotypes, 5 alleles and 15 genotypes, 8 alleles and 29 genotypes, 6 alleles and 17 genotypes, 6 alleles and 17 genotypes, 6 alleles and 19 genotypes, 5 alleles and 13 genotypes, 7 alleles and 24 genotypes were observed at D12S1056, D12S1293, D12S83, D12S1655, D12S1662, D12S334, D12S137 and D12S102. The heterozygosities at the above 8 STR loci were 86%, 84%, 87%, 82%, 84%, 85%, 81% and 89%, respectively. CONCLUSION: The distributions of allele frequencies of 6 STR loci on chromosome 7p14-15 and of 8 STR loci on chromosome 12q13 were consistent with the Hardy-Weinberg equilibrium. The highly genetic polymorphism was observed in Chinese north Han population.

Asian People↗
PubMed2006

CYP2D6 genetic polymorphism in South Indian populations.

This study aimed to determine the prevalence of genetic polymorphism in the CYP2D6 gene, which codes for the polymorphically expressed CYP2D6 drug-metabolizing enzyme. The common variants CYP2D6 *2, *3, *4, *5, *10, *14, and *17 were studied in the populations (n=447) of the four South Indian states namely Tamilnadu (TN), Kerala (Ker), Karnataka (Kar) and Andhra Pradesh (AP). Genetic polymorphisms were identified using polymerase chain reaction (PCR) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) based methods. Differences in frequencies of CYP2D6 polymorphism between each South Indian state were statistically compared, and also the frequency of South Indian population as a whole in relation to other major populations. The CYP2D6*2 allele was the most frequent variant (34.8%), followed by the *10 allele (10.2%). The *4 and *5 alleles occurred at 7.3% and 1.9% respectively. The *3, *14 and *17 alleles were not detected in the study. The *1/*2, *1/*1 and *2/*2 genotypes were the most common CYP2D6 genotypes, representing 32.7%, 19.4% and 11.8% of the South Indian population. Genotypes that predict poor metabolizer phenotype i.e. *4/*4 and *4/*5 were found at 0.6% in South Indian population. The genetic composition at the CYP2D6 locus in South Indians is distinct from Caucasian, African and even other Asian (Chinese and Japanese) populations.

Alleles↗
PubMed1996

Genetic polymorphisms of the cancer related gene and Helicobacter pylori infection in Japanese gastric cancer patients. An age and gender matched case-control study.

BACKGROUND: Gastric cancer is a multistage process, each caused by numerous factors. The objective of this study was to elucidate the risk factors for gastric cancer by using molecular epidemiologic techniques and serum markers. METHODS: Serum pepsinogen I levels, pepsinogen I/pepsinogen II (I/II) ratios, serum IgG antibody against Helicobacter pylori (H. pylori), and genetic polymorphisms of cytochrome p450 2E1 (CYP2E1), glutathione-S-transferase M1 (GSTM1), and L-myc protooncogenes were analyzed in 82 persons with gastric cancer and in 151 age- and sex-matched controls, who were selected from 208 gastric cancer patients and 375 noncancer patients, respectively. Statistical analysis was performed to elucidate which risk factors for gastric cancer were contributing the most to gastric carcinogenicity. RESULTS: Serum pepsinogen I level (odds ratio [OR] = 1.81; 95% confidence interval [CI], 1.04-3.16) and pepsinogen I/II ratios (OR = 3.09; 95% CI, 1.74-5.49) were significantly associated with gastric cancer risk in a case-control study. Seropositivity of serum IgG antibody against H. pylori (OR = 1.25; 95% CI, 0.84-1.85) and specific genotypes of a L-myc genetic polymorphism (OR = 1.33; 95% CI, 0.59-2.99) were more commonly observed in gastric cancer cases, but this was not statistically significant. Specific genotypes of the CYP2E1 RsaI polymorphism and GSTM1 gene deletion were not associated with gastric cancer. CONCLUSIONS: Atrophic mucosal change, indicated by serum pepsinogen levels, is possible a risk factor for gastric cancer. H. pylori infection and genetic polymorphisms of CYP2E1, L-myc, and GSTM1 genetic polymorphisms were not risk factors in this study.

Adult↗
PubMed2005

Genetic polymorphism of CYP2C9 in a Vietnamese Kinh population.

Cytochrome P450 2C9 (CYP2C9) shows genetic polymorphism with high interethnic variation, but no report has addressed the genetic polymorphism in the Vietnamese population. In the present study, the distribution of 2 common allelic variations of CYP2C9 was investigated in Vietnamese Kinh population, a major ethnic group in Vietnam. Genomic DNA from 157 Vietnamese subjects was amplified by polymerase chain reaction, and the presence of CYP2C9*2 and CYP2C9*3 allelic variants was determined by pyrosequencing. Among 157 Vietnamese subjects, no subject with the CYP2C9*2 allele was detected, but 7 subjects were heterozygous for the CYP2C9*3 allele. The allele frequency of CYP2C9*3 was 2.2% in the Vietnamese Kinh population. This genotype distribution was well correlated with previous reports suggesting no occurrence of CYP2C9*2 in Asians. These results suggest that CYP2C9*2 may be absent in Vietnamese Kinh population and that CYP2C9*3 is major allelic variant that causes interindividual variation of drug responses to CYP2C9 substrate drugs in the Vietnamese Kinh population.

Alleles↗
PubMed1999

Genetic polymorphisms influence variability in benzene metabolism in humans.

The role of genetic polymorphism in modulating urinary excretion of two benzene metabolites, i.e. trans,trans-muconic acid (t,t-MA) and S-phenylmercapturic acid (PMA), has been investigated in 59 non-smoking city bus drivers, professionally exposed to benzene via vehicle exhausts. Exposure to benzene was determined by personal passive samplers (mean +/- SD = 82.2 +/- 25.6 micrograms/m3), while internal dose and metabolic rate were evaluated by measuring urinary excretion of unmodified benzene (mean +/- SD = 361 +/- 246 ng/l), t,t-MA (mean +/- SD = 602 +/- 625 micrograms/g creatinine), and PMA (mean +/- SD = 5.88 +/- 4.76 micrograms/g creatinine). Genetic polymorphism at six loci encoding cytochrome-P450-dependent monooxygenases (CYP2E1 and CYP2D6), glutathione-S-transferases (GSTT1, GSTP1 and GSTM1) and NAD(P)H:quinone oxidoreductase (NQOR) was determined by polymerase chain reaction-based methods. No evidence emerged for a possible role of CYP2E1, GSTM1 and GSTP1 polymorphisms in determining the wide differences observed in the rate of benzene biotransformation. Conversely, a significantly higher t,t-MA urinary excretion was found to be correlated to, GSTT1 null genotype, and a significantly lower PMA excretion was detected in the subjects lacking NQOR activity and in the CYP2D6 extensive-metabolizers. Many biological (i.e. age and body burden) or lifestyle factors (i.e. rural or urban residence, use of paints and solvents, medication, alcohol and coffee intake), also taken into account as potential confounders, did not influence the correlations found. These findings suggest that CYP2D6, GSTT1 and NQOR polymorphisms contribute in explaining the metabolic variability observed in our sample. Therefore, these polymorphisms should be regarded as potential risk factors for benzene-induced adverse health effects.

Acetylcysteine↗
PubMed2005

[Correlation of genetic polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer patients to platinum-based chemotherapy].

BACKGROUND & OBJECTIVE: DNA repair system plays an important role in tumor sensitivity to platinum-based chemotherapy. This study was to examine the correlations of polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer (NSCLC) to platinum-based chemotherapy. METHODS: Treatment outcomes of 200 advanced NSCLC patients, treated with platinum-based chemotherapy, were evaluated. XPC-PAT, XPD Lys751Gln (rs1052559), and ERCC1 C8092A (rs1052559) were genotyped by polymerase chain reaction-amplified fragment length polymorphism (PCR-AFLP) or PCR-restrictive fragment length polymorphism (PCR-RFLP) methods in the 200 patients. Unconditional logistic regression model was used to analyze the correlation of genetic polymorphisms to clinical response. RESULTS: The distributions of XPC-PAT genotypes differed significantly between response group (complete response + partial response) and un-response group (stable disease + progressive disease)(P=0.023). The XPC LL genotype carriers had higher response rate than the SS genotype carriers (OR=3.04; 95% CI=1.25-7.41, P= 0.015). The XPD Lys751Gln and ERCC1 C8092A polymorphisms were not found to be associated with platinum-based chemotherapy. However, these 3 genetic polymorphisms in nucleotide excision repair system had interaction in the drug sensitivity (P=0.021). CONCLUSION: The genetic polymorphisms of XPC-PAT, XPD Lys751Gln, and ERCC1 C8092A in nucleotide excision repair system may be associated with sensitivity of NSCLC patients to platinum-based chemotherapy.

Adult↗
PubMed1990

Cloning of the human genomic amiloride-sensitive Na+/H+ antiporter gene, identification of genetic polymorphisms, and localization on the genetic map of chromosome 1p.

We have cloned and mapped a 90-kb region spanning the human genomic amiloride-sensitive Na+/H+ antiporter gene on overlapping cosmid clones. This cloned region extends 27 kb upstream of the 5' end of the longest antiporter cDNA and reveals a primary transcription unit of at least 60 kb. Using these genomic clones we have identified polymorphisms in the antiporter gene in human genomic DNA cleaved with enzymes TaqI and MspI; both are two-allele systems. We have localized both polymorphisms to the same segment within an intron of the antiporter transcription unit. Observed heterozygosity for both markers is 47% in 175 unrelated individuals, with the two polymorphic systems showing complete linkage disequilibrium. We have determined genotypes at the antiporter locus in 667 individuals in 59 reference families. Linkage analysis using 28 other markers on human chromosome 1 precisely locates the antiporter gene (locus APNH) on the genetic map of 1 p. The antiporter gene is closely flanked by two highly informative loci, lying 3 cM proximal to the rhesus blood group locus (Rh) and 4 cM distal to the anonymous DNA marker CMM8 (locus D1S79). These antiporter polymorphisms and informative flanking markers will prove useful in genetic linkage studies employing the antiporter gene.

Amiloride↗
PubMed2005

[Genetic polymorphisms of apoptosis-associated genes FAS and FASL and risk of colorectal cancer].

OBJECTIVE: The FAS and FASL system plays a key role in regulating apoptotic cell death and corruption of this signaling pathway has been shown to participate in tumorigenesis. We previously have shown that the FAS-1377G/A and FASL-844T/C polymorphisms are associated with esophageal cancer. This case-control study was to examine the contribution of the polymorphisms to susceptibility of colorectal cancer. METHODS: PCR-RFLP method was used to determine the genotypes of FAS-1377G/A and FASL-844T/C in 382 patients with colorectal cancer and 648 controls. The adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using logistic regression model. RESULTS: The subjects with the AA genotype of FAS-1377G/A and CC genotype of FASL-844T/C had an increased risk for colorectal cancer compared with those with the FAS-1377GG genotype (adjusted OR, 1.65; 95% CI, 1.14-2.38) and FASL-844TT genotype (adjusted OR, 1.76; 95% CI, 1.37-2.28). Furthermore, the effect of FAS and FASL polymorphisms on risk of colorectal cancer displayed a significantly gene-gene interaction (likelihood ratio test, P = 0.002). CONCLUSION: These findings suggest that the FAS-1377G/A and FASL-844T/C polymorphisms may be genetic susceptibility factors for colorectal cancer among Chinese population.

Adult↗
PubMed2004

[Comparison of genetic polymorphism of cytochrome CYP2C19 between men and women in Chinese population].

AIM: To assess the effect of gender on genetic polymorphism of cytochrome CYP2C19 in Chinese population. METHODS: The genetic polymorphism of 140 healthy Chinese were analysed by PCR-RFLP (restriction fragment length polymorphism). RESULTS: Of 52 genotyped male subjects, 23 (44.23%) were homozygous for wildtype (wt/wt), 6 (11.54%) were homozygous for CYP2C19 m1 (m1/m1), and 23 (44.23%) were heterozygous for CYP2C19 m1 or CYP2C19 m2 (wt/m1 or wt/m2); and among the 88 genotyped female subjects, 31 (35.23%) were homozygous for wildtype (wt/wt), 13 (14.82%) were homozygous for CYP2C19 m1 (m1/m1), and 44 (50.0%) were heterozygous for CYP2C19 m1 or CYP2C19 m2 (wt/m1 or wt/m2); no homozygous genotype for CYP2C19 m2 (m2/m2) was found in the study. CONCLUSION: There is no statistical difference in ocurance of wt/wt and m1/m1 between in male and in female, so gender have no significant effect on genetic polymorphism of cytochrome CYP2C19.

Adolescent↗
PubMed2005

In vivo metabolic activity of CYP2C19 and CYP3A in relation to CYP2C19 genetic polymorphism in chronic liver disease.

To study whether chronic liver disease (CLD) and genetic polymorphism affect the hepatic activity of cytochrome P450 (CYP) isoforms, we compared in vivo CYP2C19 and CYP3A activities using 3-hour omeprazole hydroxylation index (plasma concentration ratio of omeprazole to its 5-hydroxylated metabolite; a higher index indicates lower CYP2C19 activity) and partial formation clearance of cortisol to 6beta-hydroxycortisol (CL(cortisol-->6beta-HC)) in 31 CLD patients (9 with chronic hepatitis; 22 with cirrhosis comprising 20 Child-Pugh type A, 1 type B, and 1 type C) and 30 healthy subjects with different CYP2C19 genotypes. The mean (+/-SEM) omeprazole hydroxylation index in CLD patients with homozygous extensive metabolizer (EM) genotype (*1/*1, n = 8), heterozyous EM (*1/*2, n = 11; *1/*3, n = 6) genotypes and poor metabolizer (PM) genotypes (*2/*2, n = 3; *3/*3, n = 3) were 17.15 +/- 2.12, 20.02 +/- 2.63, and 26.04 +/- 3.15, respectively, which were significantly higher compared with control subjects with the corresponding CYP2C19 genotypes (0.81 +/- 0.09, 1.55 +/- 0.20, and 15.5 +/- 1.52). CLD patients with PM genotype had significantly (P < .05) higher omeprazole hydroxylation indexes than did those with homozygous EM genotype, and those with heterozygous EM genotypes had intermediate values. The mean CL(cortisol-->6beta-HC) decreased significantly (P < .001) in CLD patients compared with control subjects (1.19 +/- 0.12 versus 2.26 +/- 0.24 mL/min). Multiple regression analysis showed that CLD, serum albumin level, and CYP2C19 genotype correlated significantly (P < .05) with the omeprazole hydroxylation index, whereas no significant correlation was observed between CL(cortisol-->6beta-HC) and other variables, except CLD. Because CLD and genetic polymorphism of CYP2C19 act additively to reduce CYP2C19 activity, genotyping these patients may be of value in averting adverse reactions of drugs that depend on CYP2C19 for elimination.

Adult↗
PubMed2002

Remarkable genetic polymorphism among Entamoeba histolytica isolates from a limited geographic area.

In order to understand genetic polymorphisms among Entamoeba histolytica strains in a limited geographic area and among restricted social populations, we studied nucleotide polymorphism in DNA regions that do not encode proteins (locus 1-2 and locus 5-6) and in genes coding for chitinase and for serine-rich E. histolytica protein. Thirty E. histolytica isolates from domestically infected Japanese amebiasis patients (male homosexuals and residents in institutions for the mentally handicapped) and four reference strains were examined. PCR revealed remarkable polymorphisms in both the number and size of the PCR fragments containing these loci. Polymorphisms in lengths, types, and numbers of internal repeat units were observed in locus 1-2 and the repeat-containing region of serine-rich E. histolytica protein among the Japanese isolates. In contrast, polymorphism at locus 5-6 was observed almost exclusively in the number of repeats of a 16-nucleotide unit. The repeat-containing region of chitinase appeared to be the least polymorphic among the four loci with a single dominant genotype representing 66% (20 out of 30) of all of the isolates. Isolates obtained from male homosexuals showed a more complex genetic polymorphism than those from residents in institutions. Considering all four polymorphic loci together, all 19 Japanese isolates from male homosexuals were distinct. In contrast, all isolates obtained from mass-infection cases at a single institution had an identical genotype, suggesting that these cases were caused by a single E. histolytica strain. No significant correlation was found between genotypes and zymodemes or between genotypes and clinical presentations, e.g., colitis or liver abscess. Certain genotypes were observed with higher frequencies in male homosexuals or residents of institutions. These data indicate that genotyping of the E. histolytica isolates by using these four polymorphic loci could serve as a tool to fingerprint individual isolates. We propose that genotyping of ameba isolates should help to determine geographic origins of isolates and routes of transmission.

Amino Acid Sequence↗
PubMed2005

High-throughput detection of multiple genetic polymorphisms influencing drug metabolism with mismatch primers in allele-specific polymerase chain reaction.

Because of genetic polymorphisms of drug-metabolizing enzyme genes, the activities of the enzymes in humans vary widely and alter the metabolism of commonly used clinical agents. Severe adverse effects or resistance to therapy may result. We have developed a rapid and high-throughput genotyping method for detecting polymorphisms of the drug-metabolizing enzyme genes CYP2C9*3, CYP2C19*2, *3, CYP2D6*2, *4, *10, *14, *21, NAT2*5, *6, *7, and TPMT*3 using allele-specific polymerase chain reaction (PCR) with mismatch primers (ASPCR-MP) and CYP2D6*5, *36, and CYP2D6xN using stepdown PCR with detection by SYBR Green I. We analyzed genomic DNA from 139 Japanese volunteers. Identical genotyping results were obtained by using ASPCR-MP, stepdown PCR, and conventional PCR. We found that the methods clearly differentiate three specific profiles with no overlap in the signals. Moreover, both ASPCR-MP and stepdown PCR for genotyping took less than 3-4h. To our knowledge, this is the first report of successful simultaneous detection of multiple genetic polymorphisms with point mutations using ASPCR-MP or multiple genetic polymorphisms with large structural alterations using stepdown PCR. In conclusion, ASPCR-MP and stepdown PCR appear to be suitable for large clinical and epidemiological studies as methods that enable highly sensitive genotyping and yield a high-throughput.

Alleles↗
PubMed1997

Genetic polymorphism in intron 6 of the LMP7 gene in Japanese and its association with sarcoidosis.

Genetic polymorphism in intron 6 of the LMP7 gene was investigated using polymerase chain reaction-restriction fragment length polymorphism in 90 unrelated healthy Japanese controls and 66 Japanese patients with sarcoidosis. Four alleles, including two new ones recently identified in Koreans, LMP7*C and LMP7*D, were found in the Japanese population. The frequency of LMP7*C in the sarcoidosis patients was higher than in the healthy controls. However, this difference might be explained by a secondary association with HLA-DRB1*08 in the HLA-DRB1 gene, which is thought to be the gene primarily responsible for susceptibility to sarcoidosis.

Alleles↗
PubMed2004

[Relation of genetic polymorphism of XRCC1 with risks of chronic benzene poisoning].

OBJECTIVE: To explore the relation between genetic polymorphisms in XRCC1 and risks of chronic benzene poisoning (BP). METHODS: A case-control study was conducted. 152 BP patients and 152 workers occupationally exposed to benzene without poisoning manifestations were investigated. PCR-RFLP was applied to detect the single nucleotide polymorphisms (SNPs) on c.194, c.280 and c.399 of XRCC1 gene. RESULTS: The proportion of XRCC1 c.194Arg/Trp + Trp/Trp genotypes in the case group was lower than that of the control group, while there was a higher proportion for XRCC1 C.280Arg/His + His/His in the case group. There was a 1.67-fold decreased risk of BP for individuals carrying XRCC1 C.194Arg/Trp + Trp/Trp genotypes (OR adj = 0.60, 95% CI: 0.37-0.97, P = 0.039) compared with subjects carrying Arg/Arg allele, and individuals carrying genotypes of XRCC1 C.280Arg/His + His/His had a 1.91-fold increased risk of BP compared with these carrying the wild allele (OR adj = 1.91, 95% CI: 1.17-3.10, P = 0.009). CONCLUSION: The risk of BP for subjects carrying XRCC1 c.194Arg/Trp + Trp/Trp genotypes may decrease while for individuals carrying XRCC1 c.280Arg/His + His/His genotypes may increase.

Adult↗
PubMed2001

Efficacy of triple therapy with rabeprazole for Helicobacter pylori infection and CYP2C19 genetic polymorphism.

BACKGROUND: Rabeprazole is a new, potent, proton pump inhibitor. The metabolism of rabeprazole is less dependent on CYP2C19 genetic polymorphism. METHODS: A total of 102 Helicobacter pylori-positive patients with gastric ulcer were randomly allocated to three groups: rabeprazole 10 mg (RAC10), rabeprazole 20 mg (RAC20) or rabeprazole 40 mg (RAC40) plus amoxicillin 750 mg and clarithromycin 200 mg twice daily for 7 days. CYP2C19 genotype was determined by the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: All-patients-treated-based eradication rates in patients treated with RAC10, RAC20 and RAC40 were 83%, 77% and 90%, respectively, and per protocol-based eradication rates were 83%, 80% and 90%, respectively. The eradication rates in the three groups were not significantly different. There was also no significant difference between the all-patients-treated-based eradication rate in CYP2C19 extensive metabolizers and that in poor metabolizers (86% vs. 77%). Adverse events were 12% in extensive metabolizers and 23% in poor metabolizers, and the difference in these incidence rates was also not statistically significant. CONCLUSIONS: Triple therapy with 10 mg of rabeprazole combined with amoxicillin/clarithromycin is effective for Japanese patients with H. pylori infection, and the H. pylori eradication rate is not affected by CYP2C19 genetic polymorphism.

2-Pyridinylmethylsulfinylbenzimidazoles↗