Top PDF Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

Human leukocyte antigen DPB1 was reported to contain singly nucleotide polymorphisms conferring the strongest susceptibility to systemic sclerosis in Korean population. However, associations of specific DPB1 alleles with SSc vary in different ethnic populations. The aim of this study was to profile DPB1 alleles in Chinese population and to identify specific DPB1 alleles in association with SSc and clinical and serological features of SSc in Han Chinese. A cohort containing 338 patients with SSc and 480 gender-matched and unrelated controls were examined in the study. The HLA-DPB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher’s test) from 262 tables of allele counts or allele carriers and disease status. Thirty eight DPB1 alleles were found in the cohort. DPB1*05:01 was the most common allele in this cohort. DPB1*03:01 and *13:01 were significantly increased in SSc. DPB1*13:01 association had already been described in other ethnic populations, whereas DPB1*03:01 was specific to Han Chinese patients with SSc. In addition, comparisons between SSc subsets indicated that patients carrying DPB1*03:01 were more likely to develop pulmonary fibrosis, DPB1*04 carriers were increased in SSc patients with anti-centromere autoantibodies and in contrast, SSc patients with homozygous DPB1*05:01 showed an opposite association with marginal significance.
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Comparing HLA shared epitopes in French Caucasian patients with scleroderma.

Comparing HLA shared epitopes in French Caucasian patients with scleroderma.

Since TRAELDT association is weaker compared with FLEDR association, and since TRAELDT is often in linkage disequilib- rium (LD) with FLEDR, one could think TRAELDT association is solely due to LD. However we showed that TRAELDT has its own contribution to disease susceptibility and autoantibody specificity. A tyrosine at position 30 ( 30 Y), previously shown to reinforce the strength of the TRAELDT association with patients with ATA [9], added significance to the association but still remained lower than the FLEDR association. Similarly, on the DRß chain, by a novel approach which consists in subdividing into biologically relevant smaller sequence features and their variant types, Karp et al. showed that additional residual amino acids played a role in the risk to develop SSc [17]. Risk alleles had the sequence 26 F- 28 D_ 30 Y_ 37 Y_ 67 F/I_ 70 D_ 71 R_ 86 V. However this
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Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.

Filaggrin gene mutation c.3321delA is associated with various clinical features of atopic dermatitis in the Chinese Han population.

In this study, we first reported that c.3321delA was associated with AD coexistent skin xerosis in Asian populations. A similar study using a smaller sample in Northern China did not find this association [2]. But the German study has reported a strong association between combined FLG mutations and dry skin [21]. FLG gene number polymorphisms has been associated with the dry skin phenotype [23]. The loss or reduction of filaggrin expression disrupts barrier formation making filaggrin-deficient skin susceptible to increased transepidermal water loss and easy penetrated by environmental allergens, which can manifest as varying degrees of dry skin. The filaggrin degradation products, namely several amino acids (alanine, pyrrolidone carboxylic acid, and urocanoic acid) act as natural moisturizing factors (NMFs) in the stratum corneum. The hygroscopic NMFs are important for the maintenance of epidermal barrier hydration. NMFs are less abundant in dry skin [24], which becomes more pronounced with age [25] and changing seasons. Biochemical and immunological evidence indicate that profilaggrin and processed filaggrin are completely absent in patients carrying FLG mutations [26]. FLG deficiency or absence results in reduced NMFs and impaired epidermal barrier function, which likely contribute to the etiopathogenesis of AD and AD-associated skin xerosis. Therefore, our results are the first to suggest that FLG mutations may be associated with an individual’s predisposition to skin xerosis in the context of AD.
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Association of VDR and CYP2R1 Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population.

Association of VDR and CYP2R1 Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population.

diagnosis of PER was based on the guidelines of the “Allergic Rhinitis and its Impact on Asthma” (ARIA) 2008 update [2]. The recruited controls were from the annual physical exami- nations and exhibited neither clinical manifestation nor family history of rhinitis, asthma, or atopic diseases. The control individuals were frequency matched to the cases by age (±5 years) and gender. A standard questionnaire was administered through face-to-face interviews by trained interviewers to collect demographic data and related information. The response rate for this study was 95% in the case group and 90% in the control group. After the interview, 5 mL of peripheral blood was collected from each subject. All data and sample collections for this study were approved by the ethics committee of Nanjing Medical University, and written informed consent was obtained from all participants or the next of kin, caretakers, or guardians on behalf of the minors/children enrolled in our study. All the implements were under full compliance with all government policies and the Helsinki declaration.
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Dement. neuropsychol.  vol.6 número1

Dement. neuropsychol. vol.6 número1

ABSTRACT. Post-traumatic headache (PTH) is the most common symptom found in the post-traumatic syndrome, whose onset occurs within seven days of the trauma. The condition is characterized as acute when it persists for up to 3 months. PTH beyond this period is considered chronic. Objectives: The objective of this study was to determine the clinical features of chronic post-traumatic headache (cPTH) and its association with depression, anxiety and quality of life. Methods: A total of 73 female subjects were evaluated. Patients were divided into three groups: (a) group without headache, CONTROL, n=25; (b) cPTH group, n=19; and (c) MIGRAINE, n=29, with all subjects in the 11-84 year age group. Symptoms of anxiety and depression were evaluated by the Beck inventories of anxiety and depression, and quality of life assessed by the Lipp and Rocha quality of life inventory. Qualitative variables were analyzed using the Chi-square or Fisher’s exact tests and expressed as percentages whereas quantitative variables were analyzed by ANOVA, Mann-Whitney or Kruskal-Wallis tests with data expressed as mean±standard deviation, p<0.05. Results: Subjects with cPTH presented with headache manifesting similar features to those found in migraine. The cPTH group was associated with similar levels of anxiety and depression to the migraine group and higher than the CONTROL (p<0.001). Quality of life of individuals with cPTH was similar to that of subjects with migraine and lower than CONTROL subjects (p<0.05). Conclusions: cPTH presents similar clinical characteristics to migraine. Subjects with cPTH had high levels of anxiety and depression symptoms and reduced quality of life.
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Association of the HLA-DRB1 with scleroderma in Chinese population.

Association of the HLA-DRB1 with scleroderma in Chinese population.

1 Division of Rheumatology and Clinical Immunogenetics, the University of Texas Medical School at Houston, Houston, TX, United States of America, 2 Institute of Arthritis Research, Shanghai Academy of Chinese Medical Sciences, Guanghua Integrative Medicine Hospital, Shanghai, China, 3 Ministry of Education (MOE) Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China, 4 Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China, 5 Gansu College of Traditional Chinese Medicine, Lanzhou, Gansu, China, 6 Yiling Hospital, Shijiazhuang, Hebei Province, China, 7 Shanghai Traditional Chinese Medicine-Integrated Hospital, Shanghai, China, 8 Division of Dermatology, Huashan Hospital, Fudan University, Shanghai, China, 9 Division of Rheumatology, Teaching Hospital of Chengdu University of TCM, Chengdu, Sichuan Province, China, 10 Department of Dermatology, Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China, 11 Department of pathology, Baylor College of Medicine, Michael E. DeBakey VA Medical Center, Houston, TX, United States of America, 12 Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, China
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A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis.

A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis.

confounded by the DRB1*15:01 association (r = ¿0.05), and by the (putative) protective effects of HLA-A*02:01 ( r~0:20) and DRB1*04:01 (r~0:30). Hence, HLA-B*44:02 shows little evidence of association when added to the model in Table 3 (OR = 0.92, P~0:43). Our data provide stronger evidence of an association with DRB1*04:01 than with HLA-C*05:01 or HLA-B*44:02, but this evidence is far from definitive. The multivariate analyses suggest that not all three of these alleles are exerting causative effects, but further analyses in larger datasets and functional studies will be required to determine which (if any) are causative. The most novel association in the model is with the SNP rs9277535 in the class II gene HLA-DPB1, centromeric of the DR/ DQ region and separated by a recombination hotspot. The DP region has not been investigated as thoroughly as the DR/DQ region in genetic association studies. In normal conditions DP Table 3. Alternative logistic regression model fitted to the
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Food addiction: its prevalence and significant association with obesity in the general population.

Food addiction: its prevalence and significant association with obesity in the general population.

The third major finding from the current study is the significant correlation between ‘food addiction’ and the severity of obesity in the general Newfoundland population. This finding appears to be robust as we were able to demonstrate this significant correlation throughout a number of analyses controlling for many confound- ing factors. Firstly, the clinical symptom counts of ‘food addiction’ was significantly correlated not only with BMI, but also with virtually all obesity related measurements including body weight, waist and hip circumferences, body fat and trunk fat percentage determined by DXA, an accurate measurement of body compo- sition. This close correlation was seen in the non-food addicted group as well. We suggest that these robust and multiple correlations demonstrated a true association of ‘food addiction’ with human obesity. Additionally it was shown that obesity related variables were significantly different between food addicted and non-food addicted subjects. Participants who met criteria for ‘food addiction’ on average weighed 11.7 (kg) (25.79 lbs) more, had 4.6 higher BMI and possessed a 8.2% and 8.5% greater total body fat and trunk fat, respectively, as compared to non-food addicted subjects. These data provide the first direct evidence that ‘food addiction’ is strongly associated with obesity in the general population. Importantly, the individuals who met the criteria for ‘food addiction’ only represent between one fifth to one sixth of the total proportion of obese individuals in Newfoundland (25–30%) [40]. This suggests that ‘food addiction’ is likely an important factor in the development of human obesity but not the sole contributor.
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Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis.

Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis.

TLR2- 16934-AA carriers compared to TT or TA carriers. TLR4+896 mutants are highly associated with post-meningitis hearing loss and combined carriership of the TLR2+2477 WT with TLR4+896 mutant alleles as well as the combination of TLR4+896 mutant alleles with TLR9 -1237 mutant alleles significantly increases this risk. In multivariable regression analysis, the same genes are identified to predict hearing loss. In order to explain these findings, we focus on the pathogenesis of post- meningitis hearing loss. Since hearing loss occurs in more than 11% of PM survivors and 5% of MM survivors [2] most studies focus on PM. Bacteria spread from the infected subarachnoid space to the inner ear through the cochlear aqueduct, along the eighth cranial nerve or the blood vessels of the blood-labyrinth barrier [33]. In the peri-lymphatic spaces they induce a suppura- tive labyrinthitis. As a result, the blood-labyrinth barrier and hair cells are damaged and neurons in the spiral ganglion show apoptosis. The inner ear is, similar to the brain, a so-called immune privileged site: the number of immune competent cells is small and opsonizing agents are virtually absent under normal conditions [34]. Once bacteria have reached the inner ear, they multiply uncontrolled and bacterial autolysis occurs, leading to the release of bacterial components. The host innate immune response will be induced by recognition of these components by PRRs and lead to the transcription of cytokines by resident immunocompe- tent cells, the local endothelial cells and fibrocytes [34]. There is increasing evidence for a role of TLRs in mediating cochlear damage in meningitis [33]. Pneumolysin, recognized by TLR4, has been identified as a mediator of cochlear damage by its direct Table 1. Patient characteristics and distribution of 13 clinical severity variables in 393 children with bacterial meningitis.
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Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population.

Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population.

Previous studies based on analysis of anatomical, archeological, linguistic and genetic data have consistently suggested the presence of a significant boundary between northern and southern populations in China, with the Yangtze River as the geographical boundary [27]. The Han Chinese population, although seemingly homogeneous, exhibits a complicated substructure as the genetics of northern Han Chinese differ greatly from those of southern Han Chinese [27]. Accordingly, a previous study suggested that the significant differences among northern and southern Han Chinese subpopulations should be carefully examined, especially when sample sources are diverse, as they may influence association studies [28]. One Chinese study using tag SNPs approach observed the risk G allele of rs4430796 was significantly associated with T2D in a southern population [20], which was consistent with our results. They also found that rs752010 as an associated SNP in the same direction with ours, although the association was not significant after a correction for multiple testing. In the current sample of northern Han Chinese, false-positive or false-negative associations owing to population substructure are less likely to exist. Our carefully ascertained, relatively homogeneous case- control sample of northern Han Chinese belongs to a single geographic location of Harbin city and must be stable residents in the area. Taken together, although the three variants were not necessarily the functional culprits, the solidly positive findings of these two association studies provided support for the hypothesis that the TCF2 gene was an important contributor to T2D in Chinese.
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Associations between environmemtal features and physical activity in youth.

Associations between environmemtal features and physical activity in youth.

asking them to identify their child’s usual play areas. The most common answers were related to the yard of their home, but more than one-third of parents said their child often played outside or in open play spaces, determinants that were also confirmed by Timperio et al. (Timperio, Crawford, Telford, & Salmon, 2004). On the other hand, girls whose parents reported no access to play areas were less likely to walk or cycle in their neighborhood (Timperio et al., 2004). Indeed, safety is an important concern for parents and children (Mullan, 2003). This concern contributes to parental restrictions associated with the independent mobility of their child (Hume et al., 2009; Veitch et al., 2006) and active transport in their own neighborhood (A. Carver, A. Timperio, & D. Crawford, 2008b; Gielen et al., 2004). Carver et al. (2008a) reported that parents’ perception of safety was positively associated with adolescent boys’ moderate to vigorous physical activity after school. This could be due to adolescents’ independence. Veitch et al. (Veitch et al., 2006) reported that parents of older children (9-10 years old) were more likely to allow their child to walk or cycle to friends’ houses or to a local place than were parents of young children (6-8 years old). They indicated that having a dog could also provide their child more protection for playing in the street (Mullan, 2003). In some studies, though, no association was found between having a dog and child’s protection. (Adkins et al., 2004; J. Mota et al., 2005).
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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

MAPT/STH is mainly expressed in neurons and contributes to the organisation and integrity of the cytoskeleton. Previous studies found filamentous neuronal tau inclusions in many neurodegen- erative diseases, including AD. However, an association between MAPT/STH rs242562 and AD/aMCI has not been verified, even though an association between Parkinson disease and a sub- haplotype involving SNP rs242562 received positive results [15]. In the present study, an association was found of MAPT/STH rs242562 in the aMCI that was attributable to the genotype GG. It is well known that an elevated level of blood cholesterol can increase the risk of AD, although the exact mechanism remains unexplained. The present study found an association between LDLR rs11669576, CH25H rs7091822, PLAU rs2227564 and aMCI. The LDLR gene is located in 19p13, which has been reported to be associated with AD [16], and the LDLR protein can bind ApoE and transport cholesterol, thus having an effect on risk of AD. However, its ability to do so may vary between different genotypes [17]. Some researchers have identified a specific haplotype block of LDLR consisting of SNPs rs11669576, rs2738444 and rs5925 and showed the haplotype GTT was Table 2. Distributions of alleles and genotypes in candidate genes.
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Smoking and major depressive disorder in Chinese women.

Smoking and major depressive disorder in Chinese women.

In our survey of 5,996 women with recurrent MDD we found that 7% reported ever having smoked and 6% were lifetime regular smokers. Smokers were slightly younger and were almost three times more likely to be unmarried. Comparing those who had smoked (lifetime smokers) to non-smokers we found a number of clinical features and risk factors that differentiated the two groups. Smokers had a slightly more severe illness, as character- ized by more episodes, fulfilling more symptomatic DSM-IV criteria and more comorbid anxiety (particularly panic disorder). Smokers were more neurotic, reporting more stressful life events, and more perceived protective parenting. They were also more likely to report a family history of MDD. Nicotine dependent smokers (those with FTND scores greater than 5) were significantly more neurotic than other smokers. We comment on these issues below.
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Clinical evaluation of a substitute of HLA-B58:01 in different Chinese ethnic groups

Clinical evaluation of a substitute of HLA-B58:01 in different Chinese ethnic groups

In contrast, four of the 454 samples of healthy Han (0.9%) were AA genotype of rs9263726, and all were ho- mozygous carriers of HLA-B*58:01. Although it is still un- clear whether there is any difference in the severity and rapidity of cutaneous adverse drug reactions between HLA-B*58:01 homozygous and heterozygous carriers af- ter they take allopurinol, there are three hypotheses about how T-cell receptors and HLA interact with drugs and pep- tides (Hershfield et al., 2013; Yun et al., 2014), one sug- gesting that an increase of peptide-binding clefts may accelerate or intensify the hypersensitivity. However, this hypothesis requires further investigation. In comparison, such linkage between the AA genotype of rs9263726 and homozygous carriers of HLA-B*58:01 was not found in the Hui population. Two out of the 200 Hui group samples (1.0%) were AA genotype of rs9263726, and both of them were from carriers of HLA-B*44:03/B*58:01. There was only one sample with AA genotype in the Tibetan popula- tion (0.2%). Although the sample was from a HLA- B*58:01/B*58:01 carrier, the result is not sufficient to pro- vide support for such a relationship. Moreover, five sam- ples from the Tibet and Hui populations that were categorized as “false negative” displayed different results in HLA-B typing (Table 3), also indicating that the degrees
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Filtration of aluminum alloys and its influence on mechanical properties and shape of eutectical silicium

Filtration of aluminum alloys and its influence on mechanical properties and shape of eutectical silicium

Filtration during casting of high quality aluminum alloys belongs to main refining methods. Even when there are many years of experiences and experimental works on this subject, there are still some specific anomalies. While using ceramic filtration media during casting of aluminum alloys, almost in all experiments occurred increase of strength limit and atypical increase of extension. This anomaly was not explained with classical metallurgical methods, black-white contrast after surface etching neither with color surface etching. For that reason was used deep etching on REM. By using pressed ceramic filters, by studying morphology eutectical silicon was observed modification morphology of eutectical silicon, this explains increase extension after filtration. Pressed ceramic filters were used on experimental works. Casting was executed on hardenable alloy AlSi10MgMn.
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Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population

Association study of AFF1 rs340630 polymorphism with genetic susceptibility to rheumatoid arthritis in Chinese population

It has been increasingly recognized that multiple genes might be shared by distinct autoimmune diseases (8–10), including the genetic background of RA and SLE. In the present study, we have adopted the strategy of replicating the association of RA with genetic polymor- phism within AFF1, which was previously found to be asso- ciated with SLE in a GWAS and in multi-staged replication studies integrating the expression of quantitative trait loci in a Japanese population (11). However, our results revealed that the polymorphism was not associated with RA in a Chinese population. This might be because AFF1 is not really involved in the genetic basis of RA, though it should be noted that our study’s relatively low capability of detecting mild associations may have affected the results.
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Birth weight and polycystic ovary syndrome in adult life: is there a causal link?

Birth weight and polycystic ovary syndrome in adult life: is there a causal link?

A possible explanation for these conflicting data could be that PCOS encompasses various phenotypic subtypes that are dictated by the parental genetic traits of the individual, the mater- nal contribution during fetal life and the adult environment. In large epidemiological studies, small subtypes (with low or high birth weight) probably yield no significant differences. Anoth- er explanation may be that the relation of birth weight and PCOS risk is not linear but a U-shaped, as it has been shown for insulin resistance and type 2 diabetes [19]. If this is the case then, a much larger number of patients is needed to prove this hypothesis.
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Rev. Bras. Reumatol.  vol.57 número5

Rev. Bras. Reumatol. vol.57 número5

At disease onset, YORA patients (n = 111) were aged 32–58 (median = 45, IQR = 39.0–51.0) years; and EORA patients (n = 62) were aged 60–83 (median = 63.0, IQR = 60.7–70.0) years. In EORA group, the disease duration time was 1–16 (median = 3.0; IQR = 1.0–6.5) years; and in YORA group, the disease duration time was 1–13 (median = 5.0; IQR = 2.0–8.0) years (p = 0.21). In Table 1, one can observe the comparison between these two groups regarding demographic, serological and clinical char- acteristics; it is worth noting the difference found for gender, HAQ and RF between the groups. In EORA group there were 41.6% patients with low activity or remission by DAS 28 (<3.2) as opposed to 38.7% in YORA group (p = 0.85). As regards the use of medications, no difference was found between groups, as can be seen in Table 2.
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The SNP rs402710 in 5p15.33 is associated with lung cancer risk: a replication study in Chinese population and a meta-analysis.

The SNP rs402710 in 5p15.33 is associated with lung cancer risk: a replication study in Chinese population and a meta-analysis.

various tissue, including lung tissue and overexpress in cisplatin- resistant cell lines, encodes an enzyme—cleft lip and palate trans- membrane 1-like that may be associated with apoptosis [13]. In consideration of the premises, this associated SNP rs402710 has attracted many investigators’ attention from multiple countries and regions. Several follow-up replication studies have resound- ingly replicated the significant association of the SNP with lung cancer risk, in Caucasian [14,15,16] and Asian [16,17,18,19] population. However, some other replication studies showed the inconsistent outcomes [20,21,22]. Two Chinese replication studies failed to identify the similar effect in separate Chinese population [20,21], which may be due to the small sample size. Additionally, owing to the phenomena ‘‘winner’s curse’’ that the effect sizes of initial positive study are usually overestimated, the following replication studies are possibly to be underpowered and then very likely to fail if the necessary sample sizes are based on the initially overestimated effect sizes [23]. Nevertheless, meta-analysis, a method combining data together to make sample size exponential growth to get enough power, can clarify inconsistent results in genetic association studies [24]. Therefore, we conducted a case- control study to examine the association between rs402710 and lung cancer risk in Chinese population, after that, a meta-analysis combining previously published studies and our current study was conducted to provide a more precise estimate of this association.
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Association Study of an AFF1 Gene Polymorphism (rs340630) with Iranian Systemic Lupus Erythematosus Patients

Association Study of an AFF1 Gene Polymorphism (rs340630) with Iranian Systemic Lupus Erythematosus Patients

SNP Genotyping was performed using Amplification Refractory Mutation System-PCR (ARMS-PCR) method. The PCR reaction was carried out in 20 ml of the solution containing Taq DNA polymerase, stan- dard10x PCR buffer, 200 ng DNA, 0.2 mM of each primer, 1.5mM of MgCl2 and 200 mM of dNTP mix and 0.5 U Taq polymerase. Cycling conditions was ini- tial denaturation (94ºC,3 min) followed by 40 cycles at 94ºC for 30 sec, 64ºC for 30 sec, 72ºC for 30 sec, and final extension at 72ºC for 10 min. Both alleles were amplified in separated PCR reactions with allele specific primers for A and G alleles (Table I). The am- plified DNA fragments were separated on 2% (w/v) agarose gel and viewed after staining with ethidium bromide. A 100 bp DNA ladder was used as a marker to estimate the size of the PCR products. The samples were genotyped and classified into one of the three pos- sible genotypes AA, AG, GG. In order to confirm ARMS- -PCR results, the DNA of 3 samples (one sample from each of the AA, AG and GG genotypes) was sequenced by the Sanger sequencing method and ana lyzed with the Codoncode Aligner software (Version. 6.0.2).
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