Frequency Of AA Genotype Research Articles

Interleukin-17A gene single nucleotide polymorphism and its relation to fungal growth in psoriatic patients: A preliminary study.

Although dysbiosis and the role of the microbiome in the pathogenesis of inflammatory skin diseases have been intensively investigated, fungal colonization or infection has received minimal attention. To isolate and identify different fungal species namely Candida, Dermatophytes, Malassezia, and Aspergillus from plaque psoriasis patients, evaluate the association of IL-17A gene single nucleotide polymorphisms (SNPs) with psoriasis, and to reveal the relation between IL-17A gene SNPs and the fungal presence within the psoriatic plaques. Fifty plaque psoriasis patients and fifty healthy age and sex volunteers as controls were enrolled in this study. From psoriatic plaques, mycological isolation was done by direct microscopic examination (10% KOH mount), culture onto the three sets of media then species identification by phenotypic procedures. Genomic DNA extraction and genotyping for IL-17A (rs10484879) SNPs using polymerase chain reaction and restriction fragment length polymorphism were also done. Psoriasis cases showed higher frequency of fungal growth 86% vs. 14% in controls; (p<0.001). The frequency of IL-17A GA, AA, and total polymorphism (GA+AA) genotypes in psoriasis cases was significantly higher than in controls. There was non-significant association between different IL-17A genotypes and fungal growth except Aspergillus flavus, which decreased gradually with GG, GA, and AA (37.5%, 20.8%, and 0%, respectively). Psoriasis cases are significantly associated with fungal growth, which may be a contributing factor in its pathogenesis. SNPs of IL-17A (rs10484879) G/A gene led to increased susceptibility toward pathogenesis of psoriasis. Fungal growth and IL-17A GA+AA genotypes are suggested to be independent predictors of psoriasis susceptibility.

Molecular Evaluation of Chlamydia trachomatis Infection and Its Association with Tumor Necrosis Factor-α Polymorphism in Recurrent Spontaneous Abortions

The rate of infections in the intensive care units (ICUs) is rising, mainly because of the increasing use of invasive procedures. Several bacterial infections and host genetic backgrounds, including TNFα SNP polymorphisms, play important roles in recurrent spontaneous abortions (RSA). So, this study aimed to evaluate C. trachomatis infection and its relation with TNFα -308 and -238 polymorphism for early detection and treatment of RSA. The blood samples were taken from 63 Iranian women with a history of RSA and 59 ethnically matched healthy controls with at least two successful pregnancies and no history of abortion. Then, DNA was extracted from all samples and detection of C. trachomatis and TNFα -308 and -238 polymorphism was determined by multiplex amplification-refractory mutation system (ARMS)-PCR. Finally, the statistical analysis to detection C. trachomatis and host genetic roles in RSA were analyzed by Epi Info TM software by X2 test. C. trachomatis was detected in 22 and 3% of the RSA and the control group, respectively. Moreover, in comparison with healthy controls, C. trachomatis infection was closely correlated with TNFα -308 genotypes, whereas no significant association was observed between TNFα -238G/A and RSA. In addition, statistical analysis of TNFα -308 genotypes showed that the frequency of genotype AA was higher in patients with C. trachomatis infections than healthy individuals and the difference was statistically significant. This study demonstrated that molecular analysis of TNF -308 genotypes is important in early detection and treatment of RSA with C. trachomatis infection.

Detection of GHR|AluI gene polymorphism and its association with body weight of Madura cattle in Indonesian Beef Cattle Research Station

Madura cattle is a one of the native cattle that are genetically tolerant of tropical climates. Madura cattle are one of the beef cattle breeds in Indonesia. Madura cattle can be a superior breed, but improving growth trait in Madura cattle needs to be conducted. The early step that was needed was for detecting the genes which were involved in growth traits. The purpose of this research was for detecting GHR gene polymorphisms and its association with body weight of Madura cattle population in Indonesian Beef Cattle Research Station. This study used 110 DNA samples of Madura cattle that was collected from the experimental barn at Indonesian Beef Cattle Research Station. DNA samples were extracted by DNA extraction kit. Genotype of GHR gene was detected by PCR-RFLP method using AluI restriction enzymes. In this study, association genotype and body weight was analysed by univariate GLM method. The birth weight, weaning weight, yearling weight and 18 months weight of Madura cattle were 16.8±0.3 kg; 82.4±2.3 kg; 124.6±3.7 kg and 166.7±5.0 kg, respectively. The GHR genes of Madura cattle had 3 genotypes AA, AG and GG and genotype frequencies of GHR gene were 0.273 (AA), 0.373 (AG), 0.355 (GG), respectively. Whereas the allele frequencies of A was 0.459 and the allele frequencies of G was 0.541. Based on Chi-square (X2) analysis showed that the population sample was not disequilibrium. The result of association analysis was significant (P <0.05) on weaning weight, yearling weight and 18 month weight. It was concluded that the GHR gene has potential as a genetic marker for growth traits and can be used as MAS in Madura cattle in Indonesian Beef Cattle Research Station.

Genetic polymorphisms of interluekin-17A gene in Black-clothes Zhuang population in Guangxi

Objective To explore the distribution characteristics of rs3819024 and rs2275913 polymorphisms of interleukin-17A (IL-17A) gene in Black-clothes Zhuang population in Guangxi and the polymorphism different among ethnic populations. Methods The polymorphisms of rs3819024 and rs2275913 of IL-17A gene in 115 Black-clothes Zhuang subjects were genotyped by SNaPshot technique. And used statistical methods to compare the differences in the distribution of these polymorphisms across sexes and populations. Results There were AA, AG and GG genotypes at rs3819024 and rs2275913 of IL-17A gene of Black-clothes Zhuang population in Guangxi, and AG genotype was the most common genotype in both loci. The frequencies of AA, AG and GG genotypes at rs3819024 were 15.6%, 54.8% and 29.6%, respectively, and the frequencies of AA, AG and GG genotypes at rs2275913 were 27.8%, 51.3% and 20.9%, respectively. G and A alleles were commonly found at rs3819024 and rs2275913, respectively, and their distribution frequencies were 57.0% and 53.5%, respectively. The genotype and allele frequency of rs3819024 and rs2275913 had no significant difference between male and female ( P>0.05). The genotype and allele of rs3819024 were significantly different from Japanese in Tokyo, Japan (JPT), Yoruba in Ibadan, Nigeria (YRI), Gujarati Indians in Houston (GIH) and Utah residents with Northern and Western European ancestry from the CEPH collection (CEU) populations published by the 1000 Genome Project (all P<0.05). There was no statistically significant different from Han Chinese in Beijing, China (CHB) population ( P>0.05)。The distribution frequency of each genotype and allele at rs2275913 site were significantly different from YRI, GIH and CEU ( P<0.05), and there was no statistically significant different from HCB ( P>0.05). Compared with JPT, the difference in genotype distribution frequency was not statistically significant ( P<0.05), but the difference in allele distribution frequency was statistically significant ( P<0.05). Conclusion The locus polymorphisms of rs3819024 and rs2275913 of IL-17A gene have difference among different races and regions. 摘要： 目的 探讨广西黑衣壮人群白细胞介素 17A 基因 ( IL-17A) rs3819024、rs2275913 位点的多态性分布特点和 不同人群间的多态性差异。 方法 采取多重单碱基延伸法 (SNaPshot) 方法对 115 例广西黑衣壮人群 IL-17A 基因 rs3819024、rs2275913 位点进行基因分型检测, 并比较不同性别及人群分布差异。 结果 广西黑衣壮人群 IL-17A 基因 rs3819024 和 rs2275913 位点均存在 AA、AG、GG 3 种基因型, 两位点基因型分布均以 AG 基因型多见, 其中 rs3819024 位 点 AA、AG、GG 基因型的分布频率分别为 15.6%、54.8%、29.6%; rs2275913 位点 AA、AG、GG 基因型的分布频率分别为 27.8%、51.3%、20.9%。rs3819024 和 rs2275913 位点分别以 G 和 A 等位基因多见, 分布频率分别为 57.0% 和 53.5%。rs3819024 和 rs2275913 两位点基因型及等位基因频率在广西黑衣壮人群男女性别间比较, 差异无统计学意义 ( P>0.05)。rs3819024 位点基因型及等位基因频率与千人基因组计划 (1000 Genomes) 数据库公布的日本人群 (JPT)、非洲 尼日利亚人群 (YRI)、印第安人群 (GIH)、欧洲人群 (CEU) 比较, 差异均有统计学意义 ( P<0.05); 与北京汉族人群 (HCB) 比较差异无统计学意义 ( P>0.05)。rs2275913 位点基因型及等位基因频率与 YRI、GIH、CEU 人群比较差异均有统计学 意义 ( P<0.05), 与 HCB 人群比较差异无统计学意义 ( P>0.05); 而与 JPT 人群相比, 基因型频率差异无统计学意义 ( P>0.05), 但等位基因频率差异有统计学意义 ( P<0.05)。 结论 IL-17A 基因rs3819024、rs2275913 基因位点多态性在不同 种族和地区间存在差异。

Interlukin-27 rs153109 polymorphism confers the susceptibility and prognosis of aplastic anemia in Chinese population.

Accumulating evidence has indicated that interleukin (IL)-27 and its gene polymorphisms exert pivotal impact on several autoimmune disorders. This research intended to investigate the relationship between IL-27 rs153109 polymorphism with risk and prognosis for aplastic anemia. IL-27 rs153109 polymorphism was detected with polymerase chain reaction-ligase detection reaction in 238 patients with aplastic anemia and 215 normal individuals. Enzyme-linked immunosorbent assays were applied to measure the plasma level of IL-27. Frequencies of rs153109 AA and GG genotype were statistically higher in aplastic anemia patients compared to controls. Similar results were observed when further divided patients into nonsevere and severe ones. That means carriers of AA and GG genotype are accompanied by an increased risk of developing aplastic anemia. Plasma IL-27 levels of aplastic anemia patients were remarkably elevated than normal group and had positive relation with disease severity. Furthermore, patients with AA genotype had obviously higher IL-27 levels than ones with AG and GG genotype. Moreover, patients carrying AA genotype exhibited a poorer reaction to immunosuppressive therapy and were more prone to clonal evolution. IL-27 rs153109 polymorphism confers genetic predisposition to aplastic anemia and influences disease prognosis, potentially by regulating IL-27 expression, which help broaden potential pathogenesis of aplastic anemia. Specifically, for patients with AA genotype, more aggressive therapeutic strategies such as hematopoietic stem cells transplantation are warranted.

The association between fat mass and obesity-associated (FTO) genotype and serum vitamin D level in breast cancer patients.

The preventive effect of vitamin D against breast cancer can be influenced by gene polymorphisms. This study aimed to investigate the association between serum level of 25(OH) vitamin D and FTO genotype in breast cancer patients. A cross‐sectional study was carried out on 180 newly diagnosed patients with breast cancer in Tehran, Iran. The blood samples were collected from the participants in order to assess the FTO gene rs9939609 polymorphism by the tetra‐primer amplification refractory mutation system (Tetra‐ARMS) PCR method. The serum level of 25(OH) vitamin D was measured using the direct competitive enzyme‐linked immunosorbent assay (ELISA) method. The association between vitamin D and the FTO genotype in patients with breast cancer was assessed after adjustment for cofounders. The frequency of TT, AT and AA genotypes in the breast cancer patients were 43% (n = 77), 49% (n = 89) and 8% (n = 14), respectively. All patients with higher than 40 ng/dl of serum 25(OH) vitamin D had one or two copies of FTO rs9939609 risk allele (p = 0.019). No linear association was found between the number of FTO risk allele and the level of serum vitamin D. All patients with high serum level of 25(OH) vitamin D had one or two copies of FTO rs9939609 risk allele. FTO gene polymorphisms may counteract the beneficial effects of vitamin D in breast cancer prevention. Further studies can help to better understand the genetic factors predisposing to breast cancer and their effect on the association between vitamin D and breast cancer.

Interleukin-10 Promoter and the CCR5 Polymorphisms in Iranian Azari Population with Multiple Sclerosis.

Changes in the expression of cytokines as the result of the single nucleotide polymorphisms (SNPs), can affect the incidence of multiple sclerosis (MS). To investigate the relationship between the frequencies of interleukin-10 (IL-10)-1082 A/G (rs1800896) and CCR5-delta32 genotypes and susceptibility to MS in the Iranian Azari population. IL-10-1082 A/G SNP and the CCR5-delta32 were genotyped in 152 patients suffering from MS and 242 healthy non-relatives by allele specific-PCR and simple PCR methods, respectively. The frequencies of AA (37.6%) and AG (55.9%) genotypes of IL-10-1082 were significantly high in the control (p = 0.021) and MS patients (p = 0.015), respectively, with no statistical difference between these groups. There was no significant difference in the CCR5 gene based on the possession of wild/wild and wild/del32 genotypes between MS patients and the control group. The del32/del32 genotype was not seen in any of the investigated groups. Tobacco (cigarettes and hookahs) consumption was higher among the MS patients (p=0.004), and this has the potential to raise the risk of MS in both the individuals and their family. However, it had no significant relation with the frequency of different genotypes of the IL-10-1082 and the CCR5. Our finding conclude on possible role of AA genotype of IL-10 -1082 as a protective factor in MS.

Association of Two MMP-8 Gene Polymorphisms With Recurrent Pregnancy Loss in Iranian Women

Background: It has been reported that less than 5% of women experience recurrent pregnancy loss (RPL). different matrix metalloproteinases (MMPs) have proteolysis function with a main role in the stable development of the fetus. Objective: This study aims to assess the associations between two single nucleotide polymorphisms (rs2509013 C&gt;T and rs11225395 G&gt;A) of MMP-8 gene and RPL among 130 Iranian women with a history of RPL and 130 controls. Methods: Genotyping of the MMP-8 gene was done for the two polymorphisms by using Sanger sequencing method. Results: High frequency of AA genotype (OR: 2.5, 95%CI:1.02-4.1, P&lt;0.01) and A allele (OR:1.95, 95% CI:0.95-3.1, P&lt;0.001) of rs11225395 G&gt;A polymorphism in patients compared to controls. This high frequency was also reported in the haplotypes and combined genotypes of polymorphism. Conclusion: The MMP-8 gene may be involved in RPL risk and is a potential biomarker for RPL susceptibility.

Effect of Single Nucleotide Polymorphism rs1044925 in Acyl-CoA: Cholesterol Acyltransferase-1 Gene on Plasma Lipid Parameters in Patients with Ischemic Stroke

Acyl-coenzyme A: cholesterol acyltransferase-1 (ACAT-1) catalyzes the synthesis of cholesteryl esters from cholesterol and fatty acyl-CoA in tissues and the enzyme plays a major role in atherosclerosis and cellular cholesterol homeostasis. The study shows the effect of single nucleotide polymorphism rs1044925 in acyl-CoA:cholesterol acyltransferase-1 gene on plasma lipid parameters in patients with ischemic stroke. 100 patients with ischemic stroke and 100 controls matched for sex and aged 46-87 were selected for the study. Lipid profiles were measured using Randox kits and lipoprotein ratios were calculated using Excel software. The genotyping of the acyl-coenzyme A: cholesterol acyltransferase-1 rs1044925 SNP were performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) combined with 2% gel electrophoresis. There were significant difference (P&lt;0.05) in the genotypic and allelic frequencies of ACAT-1 rs1044925 SNP between the normolipidemic and patients with ischemic stroke. The frequencies of AC, CC and AA genotypes of the ACAT-1 gene were 33%, 3% and 64% for the control and 57%, 5% and 38%, for the stroke subjects respectively. The frequencies of C and A alleles were 19.50% and 80.50% for the control and 33.50% and 66.50% for the ischemic stroke subjects (P &lt; 0.0001) respectively. The effects of genotypes on plasma lipid profiles and lipoprotein ratios were found for both control and stroke subjects. The A allele carriers of ACAT-1 rs1044925 SNP had lower plasma TG, TC, VLDL-C and other lipid parameters as compared to the C allele carriers for both subjects. The C allele carriers were responsible for the increase in dyslipidemia for both subjects. The results of this study show that the polymorphism of rs1044925 in the ACAT-1 gene as effect on plasma lipid profiles and lipoprotein ratios in ischemic stroke patients.

Association of Matrix Metalloproteinase 9 Polymorphism with Pulmonary Functions in South Indian Population -A cross sectional study

Objectives: Matrix metalloproteinase (MMP) is an elastase released by activated macrophages. Increased activity of elatase can lead to extracellular matrix degradation.The study was aimed to estimate and correlate serum MMP-9 levels and Malondialdehyde (MDA) levels with pulmonary function test parameters. Materials and Methods: In the current study, we have recruited healthy South Indian adults. After obtaining informed written consent, 5ml of venous blood was collected. Pulmonary function testing was done by spirometry. DNA extraction and Real time Polymerse Chain Reaction (RT PCR) was done. Serum MMP-9 and MDA levels were estimated. Results: The genotype frequency of AA, AG, and GG was 26 (21%), 53 (42%), and 46 (37%), respectively. The frequency of the “A” allele was 0.42 and the “G” allele was 0.58. On comparison, serum MMP-9 levels were found to be elevated significantly in the AA genotype. Serum MDA levels were also elevated in the AA genotype but the difference was not statistically significant. On correlation, there was a significant negative correlation between serum MMP-9 levels and pulmonary function test (PFT) parameters in individuals with the AA genotype. A negative correlation was also found between MDA levels and PFT parameters in AA genotype but it was not statistically significant. Conclusion: Hence, we conclude that the AA genotype individuals may be more prone to extracellular matrix degradation when they are exposed to oxidative stress and environmental stressors such as smoking and air pollution.

The investigation on allelic, genotypic frequencies and gene expression study in coding region of tyrosinase gene in Deoni cattle breed of western India

An investigation was carried out on Deoni animals of western India to study the allelic and genotypic frequencies in coding region of TYR gene as well as gene expression profile. The animals were grouped according to age, gender, strain and intensity of partial albinism (low, medium and high). The present study revealed that the genotypic frequency of TYR gene across different strains, gender, age group and level of partial albinism was found to be non-significant for both exon-I and exon-II. The AB genotype in Balankya (0.70) was observed highest genotypic frequency followed by Wanera (0.55) and Shewara (0.55) strains. The genotypic frequency of AB and BB genotypes were observed highest in male and female, respectively. In exon-I, genotype frequency of AA genotype was found highest (0.55) in low level of partial albinism. The allelic frequencies in Shewara strain, male and low level of partial albinism were 0.75, 0.63 and 0.73, respectively. However, in exon-II genotype frequency of AB and BB was observed highest (0.70) in Wanera and Balankya strains followed by AA genotype in Shewara (0.50). The highest genotypic frequency of AA (0.87) and BB (0.50) were in male and female, respectively. The genotype frequency of AB genotype was found highest in all level of partial albinism. The allelic frequency was highest (0.85 for B allele) in Wanera strain, male (0.80 for A allele) and high level (0.60 for A allele) of particle albinism. The highly significant (p = 0.002) expression of tyrosinase gene was observed in young animals as compared to adult animals. The TYR gene expression was significantly (p = 0.047) higher in animals with low intensity of partial albinism followed by in the animals with medium and high intensity. Therefore, it is inferred that the TYR gene expression in young animals were high and as compared to the old animals of Deoni cattle breed.

GA Genotype of the Arg280His Polymorphism on The XRCC1 Gene: Genetic Susceptibility Genotype in Differentiated Thyroid Carcinomas?

Differentiated thyroid carcinomas (DTC) are the most common form of endocrine malignancies. The role of genetic variations in the development of papillary thyroid carcinoma (PTC) is approximately 60.0-70.0%. The X-ray repair cross-complementing group 1 (XRCC1) protein has an important role in DNA repair mechanisms and genomic polymorphisms of XRCC1 gene affect the function of the protein. In the present case-control study, we aimed to compare the genotype frequency distributions of XRCC1 single nucleotide polymorphisms (SNPs) in terms of the presence of other risk factors (Hashimoto’s thyroiditis, smoking, obesity, radiation exposure) in patients with thyroid nodules who had fine-needle aspiration biopsy (FNAB) and/or thyroid surgery due to thyroid cancer. The genotype frequency distributions of three common XRCC1 SNPs (Arg194Trp, Arg399Gln, Arg280His) were compared to those with DTC (n = 228), benign thyroid nodules (BTN, n = 100) and healthy controls (n = 93) in terms of certain pre defined risk factors such as the presence of Hashimoto’s thyroiditis, smoking, obesity, a family history of thyroid cancer and radiation exposure. The frequency of the GA genotype of Arg280His in DTC cases was found to be higher than in those with BTN and the healthy control group (p <0.001). The DTC group had the lowest frequency of AA genotype of Arg280His (35.5%, p <0.001). Among those with a family history of thyroid cancer, 78.9% had a GA genotype and 21.1% had the AA genotype of Arg280His (p = 0.004). The Arg280His GA genotype was more common in DTC than in cancer-free controls. The GA genotype frequency was also high in DTC cases with a family history of thyroid cancer.

Association Study of rs2987983 Polymorphism in the Promoter Region of ESR2 Gene and Susceptibility to Nodular Thyroid in Women of Markazi Province, Iran

Background: The risk of thyroid disease has been increased during recent years; more than 200 million people are suffering from various types of thyroid diseases. The rate of thyroid nodules in women is 4 times more than that of men. Epidemiological findings and experimental evidence of thyroid lesions suggest that sex hormones, especially estrogen, may affect this gland and its neoplasms. Objectives: Considering the prevalence of benign and malignant thyroid disease in women, we investigated the association between rs2987983 polymorphism in the estrogen receptor beta gene and nodular thyroid disease. Methods: In this case-control study, 146 patients with thyroid nodules from Amir- Almomenin Hospital in Arak were compared with 151 healthy individuals. The diagnosis was performed by ultrasonography and confirmed by an endocrinologist. After DNA extraction, genotyping was performed with T-ARMS PCR. Finally, statistical analysis was carried out. Results: The frequencies of AA, AG, and GG genotypes in the case group were 48 (32.9%), 83 (56.8%), and 15 (10.3%), respectively. These values in the control group were 64 (42.4%), 64 (42.4%), and 23 (15.2%), respectively. Overall, a statistically significant association (P = 0.042, χ2 = 6.3, df = 2) was observed between rs2987983 polymorphism and thyroid nodules. Conclusions: Considering the significant association between rs2987983 polymorphism and thyroid nodules, it can be suggested that the mentioned polymorphism may be used as a diagnostic biomarker. Because this polymorphism is in the promoter region of the gene, it probably alters gene expression levels.

The impact of the nucleotide-binding oligomerization domain 1 (NOD 1) gene polymorphism on Helicobacter Pylori induced chronic gastritis in hepatic patients.

Background: Chronic infection with Helicobacter pylori (H.pylori ) causes atrophic and even gastric metaplastic changes, and it has a well-known link to peptic ulceration. Nucleotide-binding oligomerization domain-containing protein 1 (NOD1) is a protein receptor that is presented by the NOD1 gene. It distinguishes H.pylori bacterial molecules and enhances an immune response Objectives: to describe the relation between the NOD1 gene (rs2075820) polymorphism and H.pylori infection in hepatic and non hepatic patients with chronic gastritis, study its impact on the degree of chronic gastritis in H.pylori positive individuals, and to examine the effect of H. pylori on clinical, endoscopic and histopathological findings and child paugh scoring in hepatic patients. Methodology: Gastric tissue samples were taken from selected 200 patients with chronic gastritis, either hepatic or non hepatic. Rapid urease test and pathological findings classified them into H.pylori infected and non infected patients. Genotyping of NOD 1 was studied using polymerase chain reaction /restriction fragment length polymorphism (PCR–RFLP) method. Results: A significant higher frequency of AA genotype, and the A allele of NOD1 gene in H.pylori +ve patients, either hepatic; (58%)-(73%) or non hepatic;(62%)-(78%) as compared to H.pylori –ve patients,(P &lt;0.001). A highly significant relation between NOD1 genotypes and endoscopic findings, where most of H.pylori infected patients with AA genotype had more peptic ulcer, antral erosion, gastric prolapse, esophageal varices and esophageal hiatus hernia compared to patients with GA and GG genotypes, (P&lt;0.001). No significant impact of H.pylori on signs of liver affection and child paugh scoring in hepatic patients. Conclusions: In NOD1 gene polymorphism, AA genotype and A allele have significantly implicated in H.pylori infection susceptibility and progression. While GG genotype and G allele have a protective effect against H.pylori infection.

The association of polymorphisms (rs2227981 and rs10204525) of PDCD1 gene with susceptibility to human T-cell leukemia virus type 1

Human T-cell leukemia virus type 1 (HTLV-1) is the first retrovirus as the causative agent of two serious diseases in human is known.Programmed cell death-1 (PD-1) is a regulatory protein that has an important role in immune system response and created exhaustion phenotype in T cells at chronic infections; therefore, it can impair anti-viral responses. Since the single nucleotide polymorphisms (SNP) in PD-1gene may influence infection with HTLV-1virus, so in this research, association between SNPs in exon 5 of PD-1 gene with susceptibility to HTLV-1 infection and proviral load (PVL) in Iran's population studied. In this case-control study, PD-1 rs2227981 and rs10204525 polymorphisms were evaluated in 81 HTLV-1 asymptomatic carriers (ACs) and 162 healthy individuals (control groups). These polymorphisms were genotyped by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Moreover, PVL was detected by quantitative real-time PCR (Q-RT-PCR). The results indicated that frequency of GA and AA genotypes in rs10204525 polymorphism was higher in ACs group (82.7%) than control group (26.5%) significantly; and GA + AA genotypes were significantly associated with HTLV-1 infection (OR = 13.244, 95%CI = 6.755–25.968, p = 0.000); but CT + TT genotypes in rs2227981 polymorphism, were as a protective factor against HTLV-1 infection (OR = 0.473, 95%CI = 0.279–0.813, P = 0.009). However, there was no significant difference between these polymorphisms and HTLV-1 PVL.

Sulfamethoxazole-trimethoprim-induced liver injury and genetic polymorphisms of NAT2 and CYP2C9 in Taiwan.

Sulfamethoxazole-trimethoprim (SMX-TMP) is one of the most frequently used antibiotics. SMX is metabolized by N-acetyltransferase (NAT) and cytochrome P450 2C9 (CYP2C9) to nontoxic or toxic intermediates. Little is known about the association between genetic variations of these enzymes and SMX-TMP-induced liver injury (SILI). The aim of this study was to explore the genetic polymorphisms of NAT2 and CYP2C9 and the susceptibility to SILI in a Han Chinese population. A total of 158 patients with SILI and 145 controls were recruited in this study. PCR-based genotyping with matrix-assisted laser desorption ionization-time of flight was used to assay the major NAT2 and CYP2C9 genotypes including NAT2 rs1495741, rs1041983, rs1801280, CYP2C9 rs1799853, rs1057910 and rs4918758. The SILI group had a higher frequency of the NAT2 rs1495741 variant AA genotype and rs1041983 variant TT genotype than the controls (42.4 vs. 25.5%; P = 0.008, and 40.5 vs. 25.5%; P = 0.022, respectively). The SILI group had more slow acetylators than the controls (43.7 vs. 25.5%; P = 0.001). There were no significant differences in the genetic variations of CYP2C9 between the SILI and control groups. After adjusting for confounding factors, the NAT2 slow acetylators still had an increased risk of SILI (adjusted OR: 2.49; 95% confidence interval: 1.46-4.24; P = 0.001), especially in those with hepatocellular and mixed type SILI. NAT2 slow acetylators are associated with a higher risk of SILI in the Han Chinese population. However, CYP2C9 genetic polymorphisms are not associated with the susceptibility to SILI.

IL-17 Genetic Variations Increase The Risk of Cirrhotic/Hepatocellular Carcinoma in Patients with Hepatitis B Virus Infection.

Genetic variation in immune regulatory genes might influence the HBV infection outcome. This study aimed to determine the association of IL-17A rs2275913 (G197A), IL-17F rs763780 (A7488G), and IL-23R rs10889677 (C2370A) gene polymorphisms, as well as the emerged haplotypes in the individual infected by HBV and to investigate their association with the infection outcome. 300 chronic HBV infections with Cirrhotic/Hepatocellular carcinoma(C/HCC), chronic active (CA), and asymptomatic carrier (AC) and 38 individuals whose infection was spontaneously cleared (SC) were enrolled. Genomic DNA was extracted, and IL-17A/F and IL-23R genotyping were performed by using the PCR-RFLP method. Out of 338 subjects, 238 and 100 were respectively male and /female with a mean age of 47.61±13.41. The frequency of GA genotype (p=0.01) and A alleles (p=0.001) of IL-17A rs2275913 (G197A), as well as the frequency of AA genotype (p=0.014) and A alleles (p=0.018) of IL-17F rs763780 (A7488G) gene locus, was found to be significantly higher in the C/HCC than CA and AC groups. Furthermore, the frequency of GA and AG haplotype in CA individuals was higher than those with C/HCC and AC (p=0.003). Also, the GG haplotype was higher in AC individuals than those with C/HCC (P=0.022), and the AA haplotype was higher in C/HCC individuals than the CA patients (P=0.001). Our findings suggest that A allele and GA genotype at IL-17A rs2275913 (G197A), as well as A allele and AA genotype at IL-17F rs763780 (A7488G) locus, might be associated with increased risk of C/HCC among patients with hepatitis B virus infection.

Genotyping of Mx Gene Related to Avian Influenza (AI) Using PCR-RFLP Analysis on KUB Chicken

Mx gene is antiviral molecules which is part of the innate immune response. In chicken, antiviral activity against vesicular stomatitis virus and the H5N1 virus has been reported to be dependent on the presence of asparagine (A) at position 631 of the Mx protein. The objective of this study was to detect the genotype of Mx gen on KUB chicken as a basis to do molecular selection on natural antibody trait. A total of 120 KUB chicken were used in this study. DNA fragment of Mx gene was amplified and analyzed using PCR-RFLP method. Three types of restriction enzymes (RsaI, SspI and HpaI) were used to determine Mx gene genotype. The results showed that the frequency of the Mx gene genotype on KUB chicken was polymorphic. The AA genotype frequencies resulted from RsaI, SspI and HpaI restriction enzymes were 0.50, 0.425 and 0.283, respectively. While the AG genotype frequencies were 0.40, 0.492 and 0.634; and GG genotypes were 0.10, 0.083 and 0.083, respectively. The frequency of A and G alleles were 0.657 and 0.343. KUB chicken population in this study remained at Hardy-Weinberg equilibrium and three types of restriction enzyme could be used to detect Mx gene.

Genetic Polymorphism in Prolactin Gene and its Effect on Test Day Milk Production Traits in Sahiwal Cattle

Background: The selection of genetically superior animals at an early stage of life, the molecular markers are used along with traditional selection. The study was carried out to identify the genetic polymorphism in the exon3 region of the Prolactin and enumerate its effect on milk production performance in Sahiwal cattle. Prolactin plays an imperative regulatory role in mammary gland development, milk emission and lactogenesis. Analysed the sequence of this gene to explore whether mutations in this sequence and it could be accountable for quantitative variations in milk production and its composition traits.Methods: Total DNA was isolated from the blood samples of 98 pedigreed Sahiwal population. Using PCR-RFLP method and direct sequencing, noticed a single-nucleotide polymorphism in exon3 region of the Prolactin gene in 156bp and also the effect of non- genetic factors on each trait was assessed by least-squares analysis for non-orthogonal data by a fixed model.Result: PCR-RFLP was done with RsaI restriction endonuclease for the identification of different genotypes. The frequency of G and A alleles of the Prolactin gene was evaluated as 0.575 and 0.425, whereas the frequencies of GG, GA and AA genotypes for the Prolactin gene were 0.45, 0.25 and 0.30, respectively. SNP (G55A) conferred an increase in test-day milk yield around 321.5g, in test day fat yield around 13.9g and in test day SNF yield increase was 19.4g, respectively. High correlation was perceived from test day (TD2) onwards between test day traits and lactation milk yield indicating that selection based on identified SNP in TD2 increased test day milk yield, fat yield and SNF yield by 1.1472 kg, 29.6gm and 45.4gm, respectively.

Association of Nuclear Factor Erythroid-2-Related Actor 2 Gene Polymorphisms with Diabetic Nephropathy in Chinese Patients.

AimNuclear factor erythroid-2-related factor 2 (NRF2) has emerged as a therapeutic target in many diseases. To explore this further, we evaluated the relationships between the −617C/A (rs6721961) polymorphisms within the NRF2 promoter and diabetic nephropathy (DN) in Chinese Han patients with type 2 diabetes mellitus (T2DM).MethodsA total of 883 subjects with T2DM (500 without and 383 with DN) were enrolled in this study. Multivariable linear regression models were carried out to assess the association of DN with the −617C/A (rs6721961) polymorphisms.ResultsThe AA genotype frequencies in patients with DN were significantly lower than those in patients without DN (χ2 = 8.04, p = 0.018). Multivariate logistic regression analyses showed that individuals with the AA genotype had a significantly lower risk for DN (OR 0.52; 95% CI 0.28, 0.94; p = 0.029) than those with the CC genotype. Moreover, AA carriers had a significantly lower risk of DN (OR 0.46; 95% CI 0.26, 0.82; p = 0.009) relative to those with the CC + CA genotype, even after adjusting for known DN risk factors.ConclusionOur study indicated that the −617C/A polymorphism within the NRF2 promoter was significantly associated with DN in Chinese Han patients with T2DM.