Differences In Allele Distribution Research Articles

Association of CYBB polymorphisms with tuberculosis susceptibility in the Chinese Han population

ObjectiveReactive oxygen species (ROS) play a major role in the nonspecific innate immune response to invading microorganisms, such as Mycobacterium tuberculosis (MTB). Gp91phox, encoded by CYBB, serves as a key functional subunit of the Nicotinamide Adenine Dinucleotide Phosphate (NADPH) oxidase complex, which is pivotal to ROS generation. Therefore, the aim of the study was to investigate the association of CYBB polymorphisms with tuberculosis (TB) susceptibility. MethodsIn total, 636 TB patients and 608 healthy, age and gender matched controls were enrolled in this study. All subjects were unrelated ethnic Han Chinese. Two tagSNPs were selected from the HapMap database and genotyped using matrix-assisted laser desorption/ionization time of flight mass spectrometry. ResultsAfter adjusting for confounders including age, gender and smoking, rs5917471 allele T showed significant association with decreased risk of TB (OR 0.745, 95% CI 0.556–0.999) and pulmonary TB (OR 0.618, 95% CI 0.410–0.931). However, no difference in allelic distribution was observed for the rs6610650 G/A polymorphism with respect to TB or different clinical types of TB. Further stratified analyses demonstrated the protective effect of allele T of rs5917471 was stronger among males (OR 0.500, 95% CI 0.295–0.846), smokers (OR 0.462, 95% CI 0.239–0.896), and male smokers (OR 0.372, 95% CI 0.182–0.761); the individuals carrying the A allele of rs6610650 exhibited an decreased risk of TB among males, smokers and male smokers, with OR (95% CI) of 0.535 (0.290–0.984), 0.442 (0.198–0.988), and 0.350 (0.145–0.845), respectively. There were no statistically significant differences in haplotype distribution between TB and control groups. Smoking and rs5917471 formed the best gene-environment interaction model with the testing balanced accuracy of 53.29% and cross-validation consistency of 9/10. ConclusionsThis is the first study of the association of CYBB polymorphisms with TB. Our findings suggest that the CYBB polymorphisms are significantly correlated with reduced risk of TB, especially among male smokers. Further studies are needed to verify this association.

Association between brain-derived neurotrophic factor genetic polymorphism Val66Met and susceptibility to bipolar disorder: a meta-analysis.

BackgroundIn view of previous conflicting findings, this meta-analysis was performed to comprehensively determine the overall strength of associations between brain-derived neurotrophic factor (BDNF) genetic polymorphism Val66Met and susceptibility to bipolar disorders (BPD).MethodsLiteratures published and cited in Pubmed and Wanfang Data was searched with terms of ‘Val66Met’, ‘G196A’, ‘rs6265’, ‘BDNF’, ‘association’, and ‘bipolar disorder’ up to March 2014. All original case–control association studies were meta-analyzed with a pooled OR to estimate the risk and 95% confidence interval (CI) to reflect the magnitude of variance.ResultsTwenty-one case–control association studies met our criteria for the meta-analysis. Overall, there was no significant difference in allelic distribution of Val66Met polymorphism between patients and controls with a pooled OR = 1.03 (95% CI 0.98, 1.08) although there was a trend towards association between Val66Met polymorphism and BPD in Caucasians with an OR of 1.08 (95% CI 1.00, 1.16). However, subgroup analyses showed that there was a significant association of Val allele with decreased disease susceptibility for bipolar disorder type II with a pooled OR of 0.88 (95% CI 0.78, 0.99).ConclusionsThere is no compelling evidence to supportVal66Met polymorphism in BDNF gene playing an important role in the susceptibility to BPD across different ethnicities.Electronic supplementary materialThe online version of this article (doi:10.1186/s12888-014-0366-9) contains supplementary material, which is available to authorized users.

Variable number tandem repeats in dopamine receptor D4 in Tourette's syndrome.

We attempted to clarify the association between dopamine receptor D4 (DRD4) 48-bp variable number of tandem repeats (VNTR) polymorphism and Tourette's syndrome. The DRD4 48-bp VNTR polymorphism was genotyped in 291 Tourette's syndrome patients (including 218 trios) and 405 controls. Chi-square and transmission disequilibrium test analysis were used to compare genetic distributions. We retrieved related studies in a meta-analysis to clarify the role of 2-repeat and 4-repeat alleles in the pathogenesis. Obvious genotype and allele distribution differences were observed between patients and healthy controls for both 2-repeat and 4-repeat alleles. This was verified using transmission disequilibrium test analysis. Meta-analysis showed strong associations in both the total population and the Asian population. The DRD4 48-bp VNTR polymorphism appears to be associated with Tourette's syndrome, with the 2-repeat allele performing a protective role and the 4-repeat allele a nonprotective role in the genesis of the disease.

EFFECT OF ANGIOTENSIN-CONVERTING ENZYME GENE I/D POLYMORPHISM ON NEPHROPATHY IN DIABETIC PATIENTS

Aim: to study the relation of angiotensin-converting enzyme ACE (I/D) in genetic susceptibility of diabetic nephropathy (DN). Methods. I/D polymorphism of ACE gene was studied in 58 patients with diabetes type 2. Results. There are no reliable differences in detection of DD genotype and D allele in patients with DN and without DN (40,9 and 52,3 %, 19,4 and 41,7 %, respectively) (p = 0,076, LR = 0,313, 95 % DI = 0,084-1,164 for DD and p = 0,266, LR = 0,631, 95 % DI = 0,303-1,312 for D). Conclusion. The comparison of the results of genotyping in patients with and without DN did not reveal any differences in distribution of allele and ACE genotypes.

The IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer: a case-control study.

We investigated the relationship between the distribution of the IL-1RN, TNF-β and IL-4 polymorphism and the clinical features of bladder cancer. A total of 100 patients with bladder carcinoma and 102 healthy control subjects were enrolled in the study. The IL-1RN, IL-4 and TNF-β gene polymorphisms were identified by PCR restriction fragment length polymorphism-based analysis. Allelic frequencies were compared between patient and the controls. Tumor stage, histopathological grade, tumor size/number and smoking condition were evaluated with IL-1RN, IL-4 and TNF-β gene polymorphisms. Allele distribution frequencies of IL-1RN and IL-4 gene polymorphisms were significantly different between patients and control groups. However, allele distribution of TNF-β gene was not statistically significant. There was no difference in allele distribution of the three genes in both groups regarding stage, tumor size, number of tumors and smoking condition. Although allele distribution of IL-4 gene showed significant difference considering histopathological grades in both smoking and total patients group, allele distribution of IL-1RN and TNF-β was not different. The present research suggests that the IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer. In the future, clinical improvements on diagnosis, treatment and prognosis of bladder carcinoma are expected owing to development of more sensitive and specific tests for genetic polymorphisms of cytokines that are effective on inflammation.

Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

Purpose: To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. Methods: A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs10033900 and rs2285714 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ² test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. Results: No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity. Conclusions: In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the CFI gene and AMD.

TGF-β1 and IGF-I gene variations in type 1 diabetes microangiopathic complications

BackgroundGrowth factors are generally believed to have a perpetuating role in the development of diabetic complications, However there is ample of evidence of a protective or therapeutic potential for some of them. IGF-I, according to some reports, may contribute to complication development, although a protective role for IGF-I has been claimed for all late diabetic complications, making it an exception among growth factors. Transforming growth factor (TGF)-β1 as a pleiotropic cytokine is a key player in immunoregulation. Dysregulation of TGF-β1 in diabetes has been addressed as a leading event of kidney pathologies, while there is no similar pivotal role for TGF-β1 in diabetic retinopathy or neuropathy. An association study was conducted to evaluate the distinctive roles of TGF-β1 and IGF-I in T1DM microvascular complications by gene variation-based regulatory mechanisms that are operational in modulation of both in situ and systemic levels of the gene product.MethodsTwo polymorphisms of the IGF-I gene at positions −383*C/T and −1089*C/T and two functional TGF-β1 gene polymorphisms, including codons 10 (+869*C/T) and 25 (+915*G/C) were examined in 248 British Caucasian T1DM patients and 113 healthy controls.ResultsThe distribution of IGF-1 gene polymorphisms did not reflect any significant association with different endpoints among the cases or different subgroups (complication triad) and controls. For TGF-β1 gene codon 25 polymorphism the low producer variant (allele C) were more frequent in cases than controls, which is compatible with the anti-inflammatory role of TGF-β1 and for codon 10 polymorphism the frequency of allele C was highest in retinopaths and, on the contrary and expectedly, nephropathy was more frequently accompanied by allele T (high producer). The frequency of allele G (high producer) of codon 25 polymorphism was slightly higher in the complication free group than in other subgroups.ConclusionAlthough there were some differences in distribution of allele and genotype frequencies of TGF-β1 gene polymorphism in diabetes microvascular complications the differences were not statistically significant. Regarding IGF-1 our result firstly questions the functionality of the employed polymorphic marker and secondly may entail that the main regulator of IGF-I functionality resides elsewhere rather than the IGF-I gene itself, such as post-transcriptional regulation.

Variants in Neuronal Nitric Oxide Synthase Gene may Contribute to Increased Ischemic Stroke Susceptibility in a Han Chinese Population

Variants in neuronal NOS (nNOS) gene were associated with atherosclerosis and stroke susceptibility. We aimed to investigate the association between nNOS gene polymorphism and risk of ischemic stroke caused by small-artery occlusion (SAO) and large-artery atherosclerosis (LAA) in a Chinese population. We conducted a case-control study involving 381 ischemic stroke patients and 366 healthy subjects. Selected SNPs (rs1483757, rs2293050, and rs2139733) were genotyped and assessed; the association with the risk of ischemic stroke was analyzed. Furthermore, gender- and etiologic subtype-stratified analyses were also carried out to evaluate the association between nNOS polymorphisms and risk of ischemic stroke. No significant difference was observed between selected nNOS loci and risk of ischemic stroke in alleles or any genetic models in total study population, males or females, adjusted with age, drinking and smoking status. Rs2293050 and rs2139733 genotypes were associated with total cholesterol (rs2293050, P = 0.026; rs2139733, P = 0.040) and LDL (rs2293050, P = 0.031; rs2139733, P = 0.046) in females. A significant difference in allele distribution of rs2293050 (P = 0.040) and a marginally significant difference of rs2139733 (P = 0.061) in LAA-caused ischemic stroke cases and controls were observed in total population. No association between rs1483757 and ischemic stroke was found in this study. T allele of rs2293050 and A allele of rs2139733 in nNOS gene may contribute to increased susceptibility of LAA-caused ischemic stroke in Han Chinese.

Predictive value of VEGF A and VEGFR2 polymorphisms in the response to intravitreal ranibizumab treatment for wet AMD

To determine whether gene polymorphisms of the vascular endothelial growth factor A (VEGF A) and its receptor (VEGFR) influence the response to a variable-dosing treatment regimen with ranibizumab for age-related macular degeneration. This prospective cohort study included 94 patients (94 eyes) with exudative age-related macular degeneration (AMD) treated with ranibizumab. Patients underwent a 1-year treatment as in the Study of Ranibizumab in Patients with Subfoveal Choroidal Neovascularization Secondary to Age-Related Macular Degeneration (SUSTAIN). Injections were administered monthly during 3months to all the patients diagnosed of neovascular AMD; reinjections were made when a patient lost 5 letters on the Early Treatment Diabetic Retinopathy Study chart or gained 100μm in central subfield retinal thickness measured by OCT. Genotypes (VEGF A (rs 699947, rs833061) and VEGFR (rs 2071559)) were analyzed using TaqMan probes. Best-corrected visual acuity (BCVA), subjective improvement, and macular thickness measured with OCT values were compared with VEGF A and VEGFR genotypes. Multiple regression analysis was used to assess the statistical significance. We found statistically significant differences in allelic distribution of VEGF A rs833061 polymorphism in relation with the response to intravitreal ranibizumab regarding to visual acuity improvement [p = 0,.34; OR: 1.619 (1.098-2.386)]. Patients carrying "protector" genotype CC had higher probability of best corrected visual acuity improvement. When we analyzed VEGF A rs699947 polymorphism we found that patients expressing AA genotype had a higher chance of increasing their best corrected visual acuity [p:0,022; OR 1,532 (1,015-2,313)]. We did not find statistically significant differences reagarding VEGFR rs2071559 polymorphism and treatment response. Polymorphisms of VEGF A seem to influence the different response to antiangiogenic treatment in patients with AMD in our population, although further investigation is needed to know the mechanisms of this relationship.

Genetic differences of prostate cancer between Eastern and Western population

Morbidity and mortality of prostate cancer vary widely between Eastern and Western population,which is mainly due to genetic factors.In order to further explore the different mechanisms of occurrence and development of prostate cancer,the prostate cancer susceptibility genes,such as RNASEL,ELAC2,PTEN,MSR1 and TMPRSS2-ERG are selected,and the genotype and allele distribution differences among Hispanic whites,African American,European,Chinese and Japanese are compared. Key words: Prostate neoplasms; Genetic predisposition to disease; Gene fusion

Rs4711751 and rs1999930 Are Not Associated with Neovascular Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy in the Chinese Population

Purpose: rs1999930 and rs4711751 have recently been identified as novel variants associated with advanced age-related macular degeneration (AMD) in populations of European ancestry. We aimed to investigate whether these two single nucleotide polymorphisms (SNPs) were associated with neovascular AMD (nAMD) or with polypoidal choroidal vasculopathy (PCV), a variant of AMD in Asians, using a Chinese case-control study. Methods: A total of 900 subjects, including 300 controls, 300 cases with nAMD and 300 cases with PCV, were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs1999930 and rs4711751 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between cases and controls were tested by a χ² test, with additional adjustments for age and gender using logistic regression. The statistical power was also calculated. Values of p < 0.05 were considered statistically significant. Results: No statistically significant association was observed between the two polymorphisms of nAMD or PCV phenotype (p > 0.05 for all comparisons). The difference remained insignificant after correction for age and gender (p > 0.05 for all comparisons). The statistical powers to detect the association between these two SNPs and nAMD or PCV range from 0.05 to 0.36, assuming conventional levels of statistical significance. Conclusions: In the present study, we could not replicate the reported association of these two SNPs and either nAMD or PCV in a Chinese population, suggesting that they are unlikely to be a major AMD and PCV susceptibility gene locus in the Chinese population. Considering the low power value, a large sample size is required to draw more reliable conclusions.

TNFRSF10A-LOC389641 rs13278062 But Not REST-C4orf14-POLR2B-IGFBP7 rs1713985 Was Found Associated With Age-Related Macular Degeneration in a Chinese Population

To reassess the association between TNFRSF10-LOC389641 rs13278062 and REST-C4orf14-POLR2B-IGFBP7 rs1713985 with the risk of AMD in a Chinese case-control collection. The primary study consisted of 1826 subjects, including 1226 controls, 300 cases with nAMD, and 300 cases with PCV. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs13278062 and rs1713985 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The difference in allele distribution between cases and controls was tested using a χ² test. We also performed a meta-analysis of case-control studies for rs13278062 and rs1713985 in Hong Kong and Singaporean late AMD collections of Chinese descent (1273 cases and 1652 controls) via an inverse-variance, fixed effects model as previously described. Subgroup analysis of CNV and PCV subtypes were also performed. We found no evidence to support a significant association of markers rs13278062 or rs1713985 with either nAMD or PCV, or total AMD in our Beijing study (P > 0.05 for all comparisons). Upon meta-analysis of all sample collections, we note nominally significant association between rs13278062 and increased risk of late AMD, consistent with previous findings in Japanese individuals (ORmeta = 1.17, Pmeta = 0.004). No association was detected between rs1713985 and AMD when all data were meta-analyzed. SNP rs13278062, but not rs1713985 showed nominal evidence of association with AMD in a total of 1273 cases and 1652 controls of Chinese descent. The difference between different effect sizes in our study and other studies suggested that future studies with much larger sample sizes is necessary.

ITIH3 polymorphism may confer susceptibility to psychiatric disorders by altering the expression levels of GLT8D1

A recent genome-wide analysis indicated that a polymorphism (rs2535629) of ITIH3 showed the strongest association signal with susceptibility to psychiatric disorders in Caucasian populations. The aim of the study was to replicate the association of rs2535629 with schizophrenia and major depressive disorder (MDD) in Japanese subjects. A total of 611 patients with schizophrenia, 868 with MDD, and 1193 healthy controls were successfully genotyped for rs2535629. A significant difference in allele distribution was found between patients with schizophrenia and controls (odds ratio [OR] = 1.21, 95% confidence interval [CI]: 1.05–1.39, P = 0.0077). A similar trend was found for patients with MDD (OR = 1.11, 95% CI: 0.98–1.26, P = 0.092). The allele distribution in the combined patient group (schizophrenia and MDD) was significantly different from that of the control group (OR = 1.15, 95% CI: 1.03–1.28, P = 0.011). Gene expression microarray analysis of whole blood samples in 39 MDD patients and 40 healthy controls showed that rs2535629 has a strong influence on the expression levels of ITIH4 and GLT8D1. The expression levels of GLT8D1 were significantly higher in patients with MDD than in controls (P = 0.021). To our knowledge, the present study showed for the first time the association of rs2535629 with psychiatric disorders in an Asian population. Our findings suggest that rs2535629 influences the susceptibility to psychiatric disorders by affecting the expression level of GLT8D1.

The role of androgen receptor gene in cyclosporine induced gingival overgrowth

Gingival overgrowth is a prominent side effect of cyclosporine (CsA) therapy in renal transplant patients. Although the exact mechanism by which this drug induces gingival overgrowth is uncertain, marked variations in individual susceptibility to this drug suggest a genetic predisposition. Studies have shown that genetic variation (polymorphism) in the trinucleotide cytosine-adenine- guanine (CAG) sequence in exon 1 of the androgen receptor (AR) gene is related to altered activity of the AR as a transcription factor. However, the relationship between the length of the CAG repeat and gingival overgrowth has not yet been studied. The present study was carried out to determine whether there is an association between CsA-induced gingival overgrowth and the length of the CAG repeats in the AR gene. Genomic DNA samples were prepared from the blood of 50 renal transplant patients with CsA-induced gingival overgrowth and from the blood of 100 renal transplant patients on CsA with no gingival overgrowth. The difference in allele distribution among the subjects with gingival overgrowth and control samples was statistically significant (p = 0.001). The findings suggest a link between CsA7induced gingival overgrowth and a smaller size of CAG repeat in the AR gene.

PRDM16 rs2651899 Variant Is a Risk Factor for Chinese Common Migraine Patients

Recent genome-wide association studies (GWAS) have identified 3 loci in or near PRDM16 (1p36.32, rs2651899), LRP1 (12q13.3, rs11172113) and TRPM8 (2q37.1, rs10166942) in the population-based Women's Genome Health Study (WGHS) of migraine, and 2 loci in or near TRPM8 and LRP1 were repeated in European GWAS study. To evaluate whether the same variants are related to migraine in Chinese population, we investigated migraine with aura (MA) and migraine without aura (MO) patients of Chinese Han ethnicity in mainland China. A case-control study in a cohort of 207 migraine cases and 205 ethnically matched controls was conducted by using the dual-color fluorescence resonance energy transfer (FRET) probes analysis. The genotypes of all polymorphisms in 2 groups followed the Hardy-Weinberg equilibrium. We found significant differences in allele distribution of rs2651899 variant in PRDM16 between MO patients and control subjects (P = .049, OR = 1.335, 95%CI 1.001-1.782), and there were no difference between MA patients and controls in the frequency of genotype and allele. Also, no significant differences in genotypic and allelic distributions between MA or MO patients and controls were observed in the polymorphisms of rs10166942 of TRPM8 and rs11172113 of LRP1, and there was no significant difference comparing male with female in all loci. Our data suggested that rs2651899 variant in PRDM16 plays a potential role in Chinese MO migraine susceptibility, and gender may not play a role.

A study on the association of autoantibodies, chemokine, and its receptor with disease activity in systemic lupus erythematosus in North Indian population

Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disease characterized by the production of autoantibodies against a spectrum of nuclear antigens. RANTES and its receptor CCR5 have been associated with the pathogenesis of SLE. The objective of this study is to analyze autoantibodies (DNA/RNA), allelic distribution of RANTES and the association of levels of RANTES and its receptor CCR5 in SLE patients in North Indian region. The RANTES-403 and RANTES-28 polymorphism in the promoter region of RANTES gene was studied in 80 patients and 80 healthy controls. The levels of chemokine RANTES, its receptor CCR5, anti-dsDNA, and anti-SSA antibodies levels were determined. Disease activity was assessed with the systemic lupus erythematosus disease activity index (SLEDAI) score. All the parameters were studied for statistical analysis by using t test (graph pad prism) and correlation by SPSS data. PCR-RFLP performed showed 28C/C and the 403G/G genotypes in both patients and controls, but no other genotypes such as 28C/G, 28G/G and 403A/G, 403A/A were found. Patients had higher levels of RANTES (1840.48 ± 739.42 vs. 835.44 ± 70.48 pg/ml; P < 0.0001) and its receptor CCR5 expression (26.49 ± 0.16 vs. 24.72 ± 3.02 %; P < 0.05) compared to controls. The levels of autoantibodies anti-dsDNA and anti-SSA were also higher in patients than controls. The patients showing elevated anti-dsDNA had negative correlation with SLEDAI score (P < 0.05) while borderline patients were not found to be correlated. In case of anti-Ro/anti-SSA antibody levels, the borderline patients showed a moderately significant negative correlation as compared to controls than patients with elevated autoantibody (P < 0.01). The levels of RANTES and CCR5 were also higher in case of patients than controls. But there was no significant correlation of RANTES and CCR5 with disease activity. We were unable to find an association of RANTES polymorphism with SLE in North Indian population in our sample. No significant difference in allele distribution of RANTES-28 and RANTES-403 in the sample of 160 individuals was detected. Of the two autoantibodies studied, anti-Ro/anti-SSA levels in borderline lupus patients appeared as an important parameter for monitoring/diagnosis of lupus patients.

Relationship of microsatellite instability with cervical carcinoma

Objective To investigate the relationship of cervical carcinoma with microsatellite instability,so as to provide a new pathway for investigating the risks of cervical carcinoma.Methods PCR and electrophoresis method were used to conduct genotype analysis on D1S1627 and D22S1045 in the peripheral blood of 120 cervical carcinoma patients and 102 healthy women living in Changzhou area.The susceptible and(or) resistant factors of cervical carcinoma were evaluated based on the differences in allele distribution of D1S1627 and D22S1045.Results There were significant differences in locus D22S1045(P=0.05)between cervical carcinoma group and healthy group,not on locus D1S1627(P=0.995).Univariate analysis showed significant differences at allele 14 and 17 on locus D22S1045 between the two groups(P=0.026,P=0.014),with the OR values being 3.837(95%CI:1.078-13.658) and 0.520(95%CI:0.306-0.882),respectively.Multivariate logistic regression analysis results showed that parity,smoking and allele 14 of D22S1045 were the risk factors of cervical carcinoma,with the OR value being 2.063(95%CI:1.070-3.975),1.958(95%CI:1.002-3.826) and 2.766(95%CI:1.039-7.360),respectively.Conclusion Locus D22S1045 might be associated with cervical carcinoma,with allele 14 being the susceptible factor and cellele 17 being the resistant factor.

Association of IL‐10 and CCL5 single nucleotide polymorphisms with tuberculosis in the Sudanese population

To investigate the genetic determinants for developing tuberculosis in Sudan. Case study of 232 patients with tuberculosis and 206 healthy matched controls from Sudan. In the study population, three single nucleotide polymorphisms (SNPs) in the promoter regions of CCL5 and two in the promoter region of IL-10 were genotyped using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). These five SNPs influence the expression of these genes. There were significant differences in allele distribution for CCL5 -28 C/G (rs 2280788) and IL-10 -592 A/C (rs1800872) in patients with tuberculosis compared with healthy controls. This indicates that the genotypes obtained for CCL5 and IL-10 are associated with an increased risk of developing active TB.

CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients

ABSTRACTPurpose: Age-related macular degeneration (AMD) is the main cause of legal blindness in the western adult population. We investigated the association between SNPs located in CFH, ARMS2 and HTRA1 and AMD in Spanish patients.Patients and Methods: We obtained peripheral blood samples from 121 patients with a diagnosis of AMD (84 exudative and 37 atrophic) at the Department of Ophthalmology of the University Hospital of Salamanca. We took 91 subjects as a control group. We studied a single nucleotide polymorphism (SNP) in each patient for each of the genes associated with high susceptibility to developing AMD using Real-time PCR with TaqMan probes for CFH and ARMS2 polymorphisms and PCR-RFLP for HTRA1 polymorphism.Results: We observed a statistically significant difference between patients and controls in the distribution of CFH rs1410996 genotypes, patients homozygous for the C-allele have twice the risk of developing the disease (p = 0.010; OR = 2,176 (1.194–3.964)). The analysis of ARMS2 rs10490923 polymorphism also showed differences in allelic distribution between the case and control groups (p < 0.001). Carriers of the T-allele appear more frequently in the group of patients (p < 0.001; OR = 3.340 (1.848–6.060)). Our results also confirm significant differences in the distribution of HTRA1 rs112000638 polymorphism with an increased representation of the G-allele in the patient’s group (p < 0.001; OR = 6.254(3.463–12.280)). Our study also indicates that TTGG ARMS2/HTRA1 (rs10490923/rs112000638) haplotype increases the risk of developing AMD by 9 times.Conclusions: Our results show that genotypes of ARMS2 (rs10490923), HTRA1 (rs112000638) and CFH (rs1410996) polymorphisms are related to an increased risk of suffering AMD in Spanish patients.

The +1245g/t polymorphisms in the collagen type I alpha 1 (col1a1) gene in polish skiers with anterior cruciate ligament injury.

ObjectivesThe aim of this study was to examine the association of +1245G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study.MethodsA total of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for the +1245G/T polymorphisms using real-time PCR method.ResultsGenotype distributions among cases and controls conformed to Hardy-Weinberg equilibrium (p = 0.2469 and p = 0.33, respectively). There was a significant difference in the genotype distribution between skiers and controls (p = 0.045, Fisher's exact test). There was no statistical difference in allele distribution: OR 1.43 (0.91-2.25), p = 0.101 (two-sided Fisher's exact test).ConclusionsThe risk of ACL ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T.