Frequencies Of CT Genotypes Research Articles

Association of MMP-9 gene polymorphisms with acute coronary syndrome in the Uygur population

MethodsA case–control study composed of 361 ACS patients and 432 control subjects that underwent coronary angiography were enrolled in the study. Among the ACS patients, 162 had single-vessel disease (44.9%),...

Association between gene polymorphism of CD14-159 (C/T) and allergic asthma

The objective of this study was to evaluate the possible association between the CD14-159 polymorphism and adult asthma in the Chinese population. A total of 188 asthmatic patients and 60 healthy adults were enrolled in the present study, and the CD14-159 polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR‑RFLP) analysis. The results showed that the frequencies of CC, CT and TT genotypes were 12.2, 47.9, and 39.9%, respectively, in the asthma group, and 8.3, 50.0, and 41.7%, respectively, in healthy adults, with no statistical difference between the two groups (P>0.05). The frequencies of C and T allele were 36.2 and 63.8%, respectively, in the asthma group, 33.3 and 66.7%, respectively, in the healthy group, and no statistical difference was observed in the allele frequencies between the two groups (P>0.05). Our data suggest that the CD14-159 polymorphism is not associated with adult asthma in Chinese population.

Folate supplementation, MTHFR gene polymorphism and neural tube defects: a community based case control study in North India

The present study analyses the potential role of MTHFR gene polymorphism, folate supplementation and dietary pattern among the mothers of NTD neonates and controls in heterogeneous populations of North India, with the special focus on their ethnic labels. Results indicated significant increased risk for neural tube defects with respect to low folic acid supplementation and vegetarian diet in univariate and multivariate analyses. There was no significant difference in the genotypic or allelic distribution of MTHFR C677T polymorphism, however, high frequency of CT genotype, as observed, among controls suggests heterozygous advantage probably due to supplementary folate. Among the two communities, Muslim NTD mothers had higher TT genotype showing increased risk for neural tube defects (adjusted OR: 12.9; 95% CI: 1.21-136.8) and lower folic acid supplementation (adjusted OR: 3.5; 95% CI: 1.18-10.22). Whereas, marginal increased risk for NTDs with vegetarian diet was observed among Hindus. Cultural and ethnic variation in the risk factors for neural tube defects is highlighted in the study.

Multi-drug resistance 1 genetic polymorphism and prediction of chemotherapy response in Hodgkin's Lymphoma

BackgroundThe human multi-drug resistance gene (MDR1), which encodes the major trans-membrane transporter P-glycoprotein (P-gp), was found to be associated with susceptibility to cancer and response to chemotherapy. The C3435T Polymorphism of MDR1 gene was correlated with expression levels and functions of P-gp. Here, we studied the association between MDR1 C3435T polymorphism and susceptibility to Hodgkin lymphoma (HL) and patient's response to ABVD chemotherapy regimen.Methodsa total of 130 paraffin embedded tissue samples collected from HL patients were analyzed to identify the C3435T polymorphism. As a control group, 120 healthy subjects were enrolled in the study. The C3435T Polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method. Data analysis was carried out using the statistical package SPSS version 17 to compute all descriptive statistics. Chi-square and Fisher exact tests were used to evaluate the genotype distribution and allele frequencies of the studied polymorphism.Resultsthese studies revealed that the frequency of T allele was significantly higher in HL patients compared to the controls (P < 0.05). In addition, the frequency of CT and TT genotypes were also significantly higher in HL patients compared to the controls (P < 0.05). No association between C3435T polymorphism and response to ABVD was detected among HL patients (P > 0.05).Conclusionsthese results suggest that MDR1 C3435T polymorphism might play a role in HL occurrence; however this polymorphism is not correlated with the clinical response to ABVD.

Association of MMP9 gene -1562 C/T polymorphism with myocardial infarction in Uighur population of Xinjiang

To investigate the association between matrix metalloproteinase 9 gene (MMP9) -1562C/T polymorphism and myocardial infarction (MI) in Uighur population of Xinjiang. A total of 347 patients with MI evidenced by coronary arteriography, and 403 controls free from coronary artery disease with normal angiograms were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the -1562C/T functional promoter polymorphism of the MMP9 gene. The relationship between the polymorphism and the severity of coronary arterial stenosis was analyzed. The results showed that the frequency of CT and TT genotypes in patients with MI (27.67%) was significantly higher than that in controls (14.14%). The frequencies of the -1562T allele were 15.71% and 7.56% in the MI group and the control group respectively (chi-square=24.57, P<0.01). Logistic regression analysis indicated that the T allele carriers (CT+TT) had significantly increased risk of MI compared with the CC carriers (OR=2.009, 95%CI: 1.250-3.230). Individuals carrying the -1562T allele with diabetes mellitus were at an increased risk of MI (OR=3.714, 95%CI: 1.299-10.773). The frequencies of CT and TT genotypes were not significantly different among MI patients with one, two and three or more significantly diseased vessels (chi-square=0.491, P=0.782). The -1562C/T polymorphism in the MMP9 gene promoter is associated with the susceptibility to MI in the Uighur population of Xinjiang. The T allele might be a risk factor of MI. And there was a coordinated effect between the -1562T allele and diabetes mellitus in the development of MI. The -1562C/T polymorphism may not be a predictor of the severity of coronary atherosclerosis.

Methylenetetrahydrofolate reductase C677T polymorphism in patients with lung cancer in a Korean population

BackgroundThis study was designed to investigate an association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and the risk of lung cancer in a Korean population.MethodsWe conducted a large-scale, case-control study involving 3938 patients with newly diagnosed lung cancer and 1700 healthy controls. Genotyping was performed with peripheral blood DNA for MTHFR C677T polymorphisms. Statistical significance was estimated by logistic regression analysis.ResultsThe MTHFR C677T frequencies of CC, CT, and TT genotypes were 34.5%, 48.5%, and 17% among lung cancer patients, and 31.8%, 50.7%, and 17.5% in the controls, respectively. The MTHFR 677CT and TT genotype showed a weak protection against lung cancer compared with the homozygous CC genotype, although the results did not reach statistical significance. The age- and gender-adjusted odds ratio (OR) of overall lung cancer was 0.90 (95% confidence interval (CI), 0.77-1.04) for MTHFR 677 CT and 0.88 (95% CI, 0.71-1.07) for MTHFR 677TT. However, after stratification analysis by histological type, the MTHFR 677CT genotype showed a significantly decreased risk for squamous cell carcinoma (age- and gender-adjusted OR, 0.78; 95% CI, 0.64-0.96). The combination of 677 TT homozygous with 677 CT heterozygous also appeared to have a protection effect on the risk of squamous cell carcinoma. We observed no significant interaction between the MTHFR C677T polymorphism and age and gender or smoking habit.ConclusionsThis is the first reported study focusing on the association between MTHFR C677T polymorphisms and the risk of lung cancer in a Korean population. The T allele was found to provide a weak protective association with lung squamous cell carcinoma.

Hypoxia-Inducible Factor-1 Alpha C1772T Gene Polymorphism and Glioma Risk: A Hospital-Based Case–Control Study from China

The hypoxia-inducible factor 1 alpha (HIF-1α) plays a major role in cancer progression. The aim of this study was to investigate the potential association between HIF-1α C1772T gene polymorphism and glioma risk. We conducted a hospital-based case-control study from China. A total of 300 subjects (150 glioma patients and 150 healthy controls) were recruited in this study. The peripheral blood samples were extracted. The polymerase chain reaction-restriction fragment length polymorphism method was used to test genotypes. Glioma patients had a significantly lower frequency of CC genotype (odds ratio [OR] = 0.46, 95% confidence interval [CI] = 0.24, 0.91; p = 0.03) and C allele (OR = 0.49, 95% CI = 0.26, 0.91; p = 0.03) than controls. Glioma patients had a significantly higher frequency of CT genotype (OR = 2.13, 95% CI = 1.07, 4.25; p = 0.03) and T allele (OR = 2.05, 95% CI = 1.09, 3.83; p = 0.03) than controls. There were no significant differences in the distributions of HIF-1α C1772T gene polymorphism among glioma patients at different tumor type and stage. This study suggested that CT genotype and the T allele of HIF-1α C1772T gene polymorphism were associated with a higher glioma risk in the Han population of China.

Association of MMP-9 gene polymorphisms with acute coronary syndrome in the Uygur population of China.

Matrix metalloproteinase-9 (MMP-9) plays a pivotal role in early atherosclerosis, vascular remodeling and development of atherosclerotic lesion. The potentially functional MMP-9 gene polymorphism may contribute to the susceptibility of acute coronary syndrome (ACS). This study aimed to investigate the association between two single nucleotide polymorphisms (-1562C>T, R279Q) of the MMP-9 gene in patients with ACS in the Uygur population of China. This case-control study was composed of 361 ACS patients and 432 control subjects, who had undergone coronary angiography. Among the ACS patients, 162 (44.9%) had single-vessel disease, 145 (40.2%) had two-vessel disease, and 54 (14.9%) had three-vessel disease. The genotypes of the two selected SNPs were determined by the method of polymerase chain reaction and restriction fragment length polymorphism (RFLP-PCR). The relationship between the polymorphism of the MMP-9 gene and the severity of coronary arterial stenosis was analyzed. Analysis of the two SNPs showed that the frequency of CT and TT genotypes in patients with ACS was significantly higher than that in the control group (ACS vs. controls; CT+TT: 25.5% vs. 15.8%, P=0.001). And the -1562 gene allele (C/T) was significantly associated with acute coronary syndrome (ACS vs. controls; C allele: 85.7% vs. 91.5%, T allele: 14.3% vs. 8.5%, P<0.001). But the frequencies of CT+TT and CC genotypes were not statistically different among ACS patients with one, two and three or more significantly diseased vessels (P=0.55). The R279Q polymorphism site with regard to the association with ACS was not significant (P>0.05). The presence of CT or TT genotypes, assuming codominant effect of the T allele, was independently associated with increased risk of coronary artery disease when adjustment was made for age, body mass index, smoking, hypertension and diabetes mellitus [odds ratio=1.737 (95% confidence interval, 1.337-2.257), P=0.018]. MMP-9-1562C>T polymorphism is associated with the susceptibility to ACS in the Uygur population of China. However, this mutation apparently is not related to the severity of coronary arterial stenosis. Another SNP (R279Q) polymorphism of MMP-9 is not significantly associated with the risk of ACS.

Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis

The matrix metalloproteinases (MMP) can degrade various components of the extracellular matrix and its functional genetic polymorphisms may be associated with breast cancer risk. However, this relationship remains controversial. A meta-analysis was conducted in order to investigate the potential association between four polymorphisms in the MMP gene and breast cancer risk. A database search yielded a total of 9 studies involving 2,597 cases and 2,618 controls. Four polymorphisms were included in the meta-analysis: MMP-1 -1607 2G/1G (rs1799750), MMP-2 -1306 C/T (rs243865), MMP-3 -1171 6A/5A (rs3025058) and MMP-9 -1562 C/T (rs3918242). Crude odds ratios (OR) with 95% confidence intervals (CI) were used to assess the strength of association. When all the studies were pooled into the meta-analysis, we found that breast cancer cases had a significantly higher frequency of CC genotype (OR = 1.27, 95% CI = 1.10, 1.47; P = 0.001) and lower frequency of CT genotype (OR = 0.78, 95% CI = 0.67, 0.91; P = 0.001) of MMP-2. No significant difference was found in any genotype of MMP-1, MMP-3 or MMP-9. In conclusion, this meta-analysis suggested that MMP-2 -1306 C/T polymorphism may contribute to breast cancer susceptibility. More studies were needed especially in Asians in the future.

Association of methylenetetrahydrofolate reductase C677T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

BackgroundThe association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and serum lipid profiles is still controversial in diverse ethnics. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677T polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.MethodsA total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.ResultsThe levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05-0.001). The frequency of C and T alleles was 77.4% and 22.6% in Bai Ku Yao, and 60.9% and 39.1% in Han (P < 0.001); respectively. The frequency of CC, CT and TT genotypes was 58.7%, 37.3% and 4.0% in Bai Ku Yao, and 32.6%, 56.4% and 11.0% in Han (P < 0.001); respectively. The levels of TC and LDL-C in both ethnic groups were significant differences among the three genotypes (P < 0.05-0.01). The T allele carriers had higher serum TC and LDL-C levels than the T allele noncarriers. The levels of ApoB in Han were significant differences among the three genotypes (P < 0.05). The T allele carriers had higher serum ApoB levels as compared with the T allele noncarriers. The levels of TC, TG and LDL-C in Bai Ku Yao were correlated with genotypes (P < 0.05-0.001), whereas the levels of LDL-C in Han were associated with genotypes (P < 0.001). Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, cigarette smoking, and blood pressure in the both ethnic groups.ConclusionsThe differences in serum TC, TG, LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677T or different MTHFR gene-enviromental interactions.

Association of the LIPG 584C &gt; T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

BackgroundEndothelial lipase (EL) is a major determinant of high-density lipoprotein-cholesterol (HDL-C) metabolism, but the association of endothelial lipase gene (LIPG) polymorphism and serum HDL-C levels is scarce and conflicting in diverse populations. Bai Ku Yao is an isolated subgroup of the Yao minority in China. This study was designed to detect the association of LIPG 584C > T (rs2000813) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.MethodsA total of 645 subjects of Bai Ku Yao and 638 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LIPG 584C > T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.ResultsThe levels of serum total cholesterol (TC), HDL-C, low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05 - 0.001). The frequency of C and T alleles was 73.5% and 26.5% in Bai Ku Yao, and 67.9% and 32.1% in Han (P < 0.01); respectively. The frequency of CC, CT and TT genotypes was 50.4%, 46.2% and 3.4% in Bai Ku Yao, and 41.4%, 53.1% and 5.5% in Han (P < 0.01); respectively. Serum HDL-C levels in both ethnic groups were different among the three genotypes (P < 0.05 for each). Serum TC levels in both ethnic groups were also different between the CC and CT/TT genotypes (P < 0.05 for each). The T allele carriers had higher serum HDL-C and TC levels than the T allele noncarriers. Multivariate logistic regression analysis showed that the levels of HDL-C and ApoB were correlated with genotypes in Bai Ku Yao (P < 0.05 for each), whereas the levels of TC and HDL-C were associated with genotypes in Han Chinese (P < 0.05 and P < 0.01). Serum lipid parameters were also correlated with several environmental factors in the both ethnic groups.ConclusionsThe frequency of LIPG 584T allele is lower in Bai Ku Yao than in Han Chinese. The LIPG 584T allele is associated with increased serum HDL-C, TC and ApoB levels. The differences in serum HDL-C, TC and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of LIPG 584C > T or different LIPG-enviromental interactions.

Association of DNMT1 Gene Polymorphisms in Exons With Sporadic Infiltrating Ductal Breast Carcinoma Among Chinese Han Women in the Heilongjiang Province

Background Infiltrating ductal carcinoma (IDC) is the most common malignant breast cancer in women, and genetic factors appear to play a significant role in the susceptibility to IDC. Alteration of DNA methylation is an epigenetic change in human cancers, including breast cancer. DNA-methyltransferase 1 (DNMT1) is a major enzyme that determines genomic methylation patterns. In order to clarify the association of DNMT1 polymorphisms with IDC, a case-control study was conducted in women from the Heilongjiang Province, in the northeast of China. Patients and Methods We scrutinized the 2 genetic polymorphisms in exons of DNMT1 that may influence the activity of DNMT1. Our research subjects consisted of 305 patients with IDC and 314 age-matched healthy controls. Genotypes were determined by polymerase chain reaction—restriction fragment length polymorphism. Data were analyzed using the χ 2 test by SPSS, version 13.0, and Haploview, version 4.1. The association between DNMT1 polymorphisms and the clinical features of IDC was analyzed. Results In rs16999593, the frequency of CT genotype and C allele were lower in patients than in controls ( P = .028 and P = .017, respectively). Also, rs2228611 AG genotype was higher in patients than in controls ( P = .015). The frequency of haplotype CA was lower in patients than in controls ( P = .034). Significant association was shown between the 2 single nucleotide polymorphisms of the DNMT1 gene and progesterone receptor (PgR) and p53 status. No association was found between DNMT1 gene polymorphisms and tumor size or estrogen receptor status. Conclusion Our results was a previous study, which suggested that DNMT1 gene polymorphisms in exons may provide valuable information for predicting the sporadic IDC risk and may be associated with prognosis factors such as PgR and p53 status in Chinese Han women in the Heilongjiang Province.

Methylenetetrahydrofolate Reductase Gene Polymorphisms and Risk of Myeloid Leukemia: Table 1

Objective: 5,10-Methylenetetrahydrofolate reductase (MTHFR) involved in folate metabolism has an important role in a cell because folate availability is critical for DNA integrity. This research aims to evaluate, in a case-controlled study, if the polymorphisms in MTHFR gene contribute to altering susceptibility to leukemias of acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). Materials and Methods: Thirty-eight CML patients and 106 AML patients were diagnosed based on detection of BCRABL fusion gene by reverse transcription polymerase chain reaction (RT-PCR) and immunophenotyping by flow cytometry. A control group containing 97 healthy, age- and sexmatched individuals participated in this study. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in the patient and control groups were evaluated by using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique. We assessed the relationship between the MTHFR genotype and the risk of hematologic malignancies by calculating the odds ratio (OR) with a 95% confidence interval (CI) using conditional logistic regression. Results: The frequencies of CT and TT genotypes (of 677 allele) and AC and CC genotypes (of 1298 allele) among AML patients did not show a statistically significant difference when compared with those of the controls. Also, among CML patients, the frequencies of above stated genotypes did not show statistically significant differences compared with those of the controls. Conclusions: The data indicate that because of no statistical difference in the frequencies of MTHFR gene polymorphisms (C677T and A1298C) in the patient and control groups, these polymorphisms do not contribute to an inherited genetic susceptibility of AML and CML.

Distribution of genetic polymorphisms of serum amyloid protein A1 in healthy Chinese Han and Uighur populations in Xinjiang

To investigate the genetic polymorphisms of rs2229338 and rs12218 loci of serum amyloid protein A1 (SAA1) gene in healthy Chinese Han and Uighur populations of Xinjiang. The genotypes of the SAA1 gene were detected in 316 Uighur and 362 Han healthy individuals by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). The genotype distributions of both populations were in the Hardy-Weinberg equilibrium (both P>0.05). The frequencies of AA, AG and GG genotypes of the rs2229338 locus were 76.6%, 23.4%, and 0 in the Uighurs, and 91.7%, 7.7% and 0.6% in the Hans. There was significant difference in distribution of genotypes between the two populations (P<0.01). The frequencies of CC, CT and TT genotypes of the rs12218 locus were 10.1%, 47.5%, and 42.4% in Uighurs, and 3.3%, 34.3% and 62.4% in Hans. There was also significant difference in distribution of genotypes between the two populations (P<0.01). The A-C and G-T haplotypes were more frequent in the Uighur but the A-T haplotype was more common in the Han population, respectively (both P<0.01). The mutational frequencies of the tagging SNPs in rs2229338 and rs12218 loci of theSAA1 gene in the Uighurs may be higher than those in Hans.

Methylenetetrahydrofolate reductase C677T polymorphism in patients with gastric and colorectal cancer in a Korean population

BackgroundThis study was designed to investigate an association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and the risk of gastric and colorectal cancer in the Korean population.MethodsWe conducted a population-based large-scale case-control study involving 2,213 patients with newly diagnosed gastric cancer, 1,829 patients with newly diagnosed colorectal cancer, and 1,700 healthy controls. Genotyping was performed with peripheral blood DNA for MTHFR C677T polymorphisms. The statistical significance was estimated by logistic regression analysis.ResultsThe MTHFR C677T frequencies of CC, CT, and TT genotypes were 35.2%, 47.5%, and 17.3% among stomach cancer, 34%, 50.5%, and 15.5% in colorectal cancer, and 31.8%, 50.7%, and 17.5% in the controls, respectively. The MTHFR 677TT genotype showed a weak opposite association with colorectal cancer compared to the homozygous CC genotype [adjusted age and sex odds ratio (OR) = 0.792, 95% confidence interval (CI) = 0.638-0.984, P = 0.035]. Subjects with the MTHFR 677CT showed a significantly reduced risk of gastric cancer compared whose with the 677CC genotype (age- and sex-adjusted OR = 0.810; 95% CI = 0.696-0.942, P = 0.006). We also observed no significant interactions between the MTHFR C677T polymorphism and smoking or drinking in the risk of gastric and colorectal cancer.ConclusionsThe T allele was found to provide a weak protective association with gastric cancer and colorectal cancer.

Profile of Transforming Growth Factor Beta 1 Gene (TGF- b1) Nucleotide 29 T869C Polymorphism in Malaysian Rheumatoid Arthritis patients

Introduction:Various studies on Rheumatoid arthritis (RA) patients suggested that polymorphism in the Transforming Growth Factor-Beta 1 (TGF- b1) gene may be associated with increased risk of RA severity. Results: Fifty-nine patients (52.68%%) were found to have non-severe disease and 53 patients (47.32%) were found to have severe disease. The frequency of CT genotype was the highest among the 3 genotypes (78 out of 112). For the Malays, 6 patients (12.5%) were CC genotype, 33 patients (68.7%) were CT genotype and 9 patients (18.8%) were TT genotype. For the Chinese, 7 patients (21.2%) were CC genotype, 22 patients (66.7%) were CT genotype and 4 patients (12.1%) were TT genotype. For the Indians, 5 patients (17.9%) were CC genotype, 20 patients (71.4%) were CT genotype and 3 patients (10.7%) were TT genotype. For the other ethnic groups, all 3 patients were CT genotype. Conclusion: CT genotype has the highest frequency (69.6%) Faculty of Medicine UKM Research Grant FF- 055- 2006

Methylenetetrahydrofolate reductase gene polymorphisms and the risk of colorectal carcinoma in a sample of Egyptian individuals

The study was planned as a pilot study to investigate two common polymorphisms in the MTHFR gene c.677C > T and c.1298A > C and their association with enhanced risk of colorectal cancer (CRC) in a sample of Egyptian individuals. Venous blood samples were withdrawn from 35 cases of CRC and 68 healthy controls. Specimens from colonic and rectal carcinoma tissues in addition to cancer free tissues were obtained from all cases. Frequencies of MTHFR677T and 1298C alleles were significantly higher among cases of CRC tumor tissues (50% and 56%, respectively) than germ line alleles in CRC patients (33% and 41%, respectively) and healthy controls (21% and 35%, respectively). Frequencies of heterozygous and homoyzgous polymorphisms of MTHFR at positions 677 and 1298 in carcinoma tissues were always the highest. At position 677, TT and CT genotype frequencies were 17% and 66% with an odds ratio {OR} of 11 [95% confidence interval {CI} 2.39-50.59] and OR 8.34 [95%CI 2.97-23.92], respectively, in carcinoma tissues. While in the germ line of patients the genotype frequencies of 677TT and CT were 6% and 54% with OR 1.57 [95%CI 0.26-9.51] and 2.99 [95%CI 1.25-7.12], respectively, compared to controls (6% and 29%, respectively). The combined genotype MTHFR 1298CC + AC frequencies were 86% with OR 3.71 [95%CI 1.28-10.78] in carcinoma tissues, 69% with OR 1.35 [95%CI 0.57-3.21] in germ line of patients and 62% in controls. The combined genotype 677CT plus any of the following genotypes 1298AA, AC or CC enhanced risk of CRC, when comparing germ line DNA polymorphism of patients versus peripheral blood DNA of control subjects with OR 4.5 [95%CI 0.94-21.56], OR 3.12 [95%CI 0.79-12.36] and OR 18 [95%CI 1.56-207.5], respectively, suggesting strong genetic predisposition of certain Egyptian population to CRC. These results suggested that at least one C to T polymorphism at 677MTHFR gene is required to significantly increase the risk for CRC development. Further large scale studies are required to confirm the present findings.

Association of CTLA4 Gene Polymorphism in Iranian Patients with Ankylosing Spondylitis

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a costimulatory molecule expressed by activated T cells. This study was performed to investigate the allele and genotype frequencies of CTLA4 gene polymorphisms in Iranian patients with ankylosing spondylitis (AS). One hundred and fifty-seven patients with AS and 103 controls were included in this study. Polymorphisms of CTLA4 gene at positions +49 (in exon 1), -318, and -1,147 (in the promoter region) were studied on the genomic DNA using PCR restriction fragment-length polymorphism method. The frequencies of the T allele at position -1147 in the patients with AS was significantly increased in comparison with the control group (11% vs. 5%, P = 0.004); whereas the frequencies of C allele at the same position were significantly decreased in the patient group (89% vs. 95%, P = 0.004). Comparison of genotype frequencies at this position showed that the frequency of CT genotype in comparison with other genotypes was overrepresented in the patient group (20% vs. 8%, P = 0.012), while the CC genotype in comparison with other genotypes was decreased (79% vs. 91%, P = 0.012). There was no significant difference on frequencies of genotypes at the positions -318 and +49. This study could suggest an association between specific allele in the promoter region of CTLA4 gene and AS disease.

MTHFR 677TT Alone and IRF6 820GG Together with MTHFR 677CT, but Not MTHFR A1298C, Are Risks for Nonsyndromic Cleft Lip with or without Cleft Palate in an Indian Population

To determine the association of three SNPs, IRF6 G820A, MTHFR C677T, and MTHFR A1298C, with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in an Indian population. A total of 323 NSCL/P patients, 116 of their mothers, 108 of their fathers, and 214 normal controls have been examined for the above three SNPs. Frequency of IRF6 GG was 65% in controls, 78% in cases, 84% in case-fathers, and 80% in case-mothers. MTHFR 677T homozygosity was lower than 1% in controls and unaffected parents, while in the group of probands it was much higher (3.4%; OR 4.30). The frequency of CT genotype was also high in the cases and case-mothers (OR 1.89 and 2.2, respectively). MTHFR A1298C did not reveal a statistically significant deviation in allele and genotype frequencies. While MTHFR 677T homozygotes show a significant association with NSCL/P, heterozygotes 677CT are minor risk factors. MTHFR A1298C does not show a risk in any combination of alleles. IRF6 820GG too forms a minor risk. However, combined genotypes IRF6 GG/MTHFR 677CT together form greater risk for NSCL/P.

Hepatic Lipase Gene −514C/T Polymorphism in the Guangxi Hei Yi Zhuang and Han Populations

Hei Yi Zhuang is an isolated subgroup of the Zhuang minority in China. This study was designed to compare the difference in the hepatic lipase gene (LIPC) -514C/T polymorphism and its association with lipid profiles between the Guangxi Hei Yi Zhuang and Han populations. Genotyping of the LIPC -514C/T was performed in 873 subjects of Hei Yi Zhuang and 867 participants of Han Chinese. The frequency of -514T allele was 43.47% in Hei Yi Zhuang, and 36.10% in Han (P < 0.001). The frequencies of CC, CT and TT genotypes were 30.01, 53.04 and 16.95% in Hei Yi Zhuang, and 40.95, 45.91 and 13.14% in Han (P < 0.001); respectively. Serum high-density lipoprotein cholesterol (HDL-C) and apolipoprotein B levels in both ethnic groups were higher in LIPC -514T carriers than in C carriers. In addition, serum triglyceride levels in Han were higher in TT genotype individuals than in CC genotype subjects (P < 0.05). Serum HDL-C levels were positively correlated with age, alcohol consumption and LIPC -514C/T genotypes, and negatively associated with hypertension and cigarette smoking in Hei Yi Zhuang (P < 0.05-0.01), whereas HDL-C levels were positively correlated with age, alcohol consumption and LIPC -514C/T genotypes, and negatively associated with body mass index and cigarette smoking in Han (P < 0.05-0.001). The differences in serum HDL-C levels between the two ethnic groups might partially attribute to the differences in the LIPC -514C/T polymorphism.