Association Between CD24-P226-C/T Polymorphism and Multiple Sclerosis: A Meta-Analysis

Background: Multiple sclerosis (MS) is a progressive inflammatory and neurodegenerative disease of the central nervous system (CNS), the etiology of which is still uncertain. Several case-control studies investigated the association between CD24-P226-C/T polymorphism and MS risk, and these studies have shown inconsistent results.

Objective: To address the association of CD24-P226-C/T polymorphism with MS risk by meta-analysis.

Methods: A comprehensive search was conducted to identify all eligible studies of CD24-P226-C/T polymorphism and MS risk up to July 2013. The odds ratios (ORs) of CD24 allele distributions in MS were analyzed against controls.

Results: In total, seven case-control studies with 949 cases of MS and 1177 controls were included in this meta-analysis. The overall results showed a significant association between CD24-P226-C/T polymorphism and MS susceptibility under homozygote comparison model (OR?=?2.496, 95% CI?=?1.813–3.435, p?<?0.0005), dominant model (OR?=?1.367, 95% CI?=?1.147–1.629, p?<?0.0005), recessive model (OR?=?2.305, 95% CI?=?1.700–3.126, p?<?0.0005) and allelic model (OR?=?1.422, 95% CI?=?1.244–1.625, p?<?0.0005). However, no significant association was observed under heterozygous comparison model (OR?=?1.182, 95% CI?=?0.982–1.423, p?=?0.078).

Conclusions: This meta-analysis indicates that CD24 P266-C/T polymorphism is more associated with the risk of MS than healthy controls. However, due to the small sample size in most of the included studies, additional large-scale and well-designed case-control studies were required for the validation of this association.     

Meta-Analysis of Associations Between Interleukin-10 Polymorphisms and Susceptibility to Vasculitis

Objective: This study determined whether interleukin-10 (IL-10) polymorphisms are associated with susceptibility to vasculitis.

Methods: A meta-analysis was conducted of the associations between the IL-10 -1082 G/A, -819 C/T, and -592 C/A polymorphisms and the haplotype of the IL-10-1082 G/A, -819 C/T, -592 C/A polymorphisms and vasculitis.

Results: A total of 21 comparative studies involving 4121 patients and 5504 controls were considered in the meta-analysis. Meta-analysis revealed no association between the IL-10-1082 G allele and vasculitis in all study subjects (OR?=?0.927, 95% CI?=?0.780–1.102, p?=?0.389). However, disease-specific meta-analysis showed an association between Wegener’s granulomatosis (WG) and the IL-10-1082 G allele (OR?=?0.729, 95% CI?=?0.547–0.971, p?=?0.031). Meta-analysis revealed an association between vasculitis and the IL-10-819 C allele (OR?=?0.804, 95% CI?=?0.706–0.916, p?=?0.001) in all study subjects and Behcet’s disease (BD) (OR?=?0.724, 95% CI?=?0.679–0.781, p?<?1.0?×?10^?9). Meta-analysis of the IL-10-592 C allele showed an association with vasculitis in all study subjects (OR?=?0.805, 95% CI?=?0.619–0.938, p?=?0.005) and BD (OR?=?0.718, 95% CI?=?0.661–0.781, p?<?1.0?×?10^?9). Meta-analysis of the IL-10 haplotype revealed an association between the GCC haplotype and vasculitis in Europeans (OR?=?1.239, 95% CI?=?1.105–1.513, p?=?0.035).

Conclusions: This meta-analysis showed that IL-10 polymorphisms are associated with vasculitis susceptibility, especially in WG and BD.     

The Polymorphisms K469E and G261R of Intercellular Adhesion Molecule-1 and Susceptibility to Inflammatory Bowel Disease: A Meta-Analysis

Objective: The aim of this study was to explore whether polymorphisms of intercellular adhesion molecule-1 (ICAM-1) are associated with susceptibility to Crohn’s disease (CD) and ulcerative colitis (UC).

Methods: The authors conducted a meta-analysis on the associations between the polymorphisms K469E and G241R of ICAM-1 and susceptibility to CD and UC.

Results: A total of 8 studies with 801 patients with CD, 672 patients with UC, and 1,828 controls were included in the meta-analysis. The meta-analysis revealed no association between CD and the ICAM-1 469E allele among the subjects (OR?=?1.175, 95% CI?=?0.901–1.533, p?=?0.233). However, stratification by ethnicity indicated an association between the ICAM-1 469E allele and CD in Europeans (OR?=?1.425, 95% CI?=?1.013–2.002, p?=?0.042). Meta-analysis using the homozygosity also showed an association with CD in Europeans (OR?=?2.054, 95% CI?=?1.036–4.073, p?=?0.039). The meta-analysis revealed no association between UC and the ICAM-1 K469E polymorphism. No association between CD or UC and the ICAM-1 G241R polymorphism was observed.

Conclusions: This meta-analysis demonstrates that the ICAM-1 K469E polymorphism may be associated with susceptibility to CD in Europeans, but no association was found between ICAM-1 K469E and UC. In contrast, the G241R polymorphism was not found to be associated with susceptibility to either CD or UC.     

CTLA-4 +49 A/G and −318 C/T polymorphisms and susceptibility to multiple sclerosis: a meta-analysis

Objective: The aim of this study was to explore whether cytotoxic T lymphocyte antigen-4 (CTLA-4) +49 A/G, and ?318?C/T polymorphisms confer susceptibility to multiple sclerosis (MS).

Methods: A meta-analysis of the associations between the CTLA-4 +49?A/G and ?318?C/T polymorphisms and MS.

Results: A total of 23 separate comparisons from 19 studies of the CTLA-4 +49 A/G polymorphism and 10 comparisons (8 studies) of the CTLA-4 ?318?C/T polymorphism were considered. Meta-analysis showed no association between MS and the CTLA-4 +49G allele in the analysis of all study subjects (OR?=?1.026, 95% CI?=?0.967–1.089, p?=?0.395). Stratification by ethnicity indicated no association between the CTLA-4 +49G allele and MS in Caucasians, Asians, or Arabs. Meta-analysis showed no association between RA and the CTLA-4 ?318C allele in all study subjects (OR?=?0.909, 95% CI?=?0.704–1.175, p?=?0.467). In addition, meta-analysis stratified by ethnicity revealed no association between MS and the CTLA-4 ?318 C/T polymorphism in Caucasian, Asian, or Arab populations.

Conclusions: This meta-analysis of published studies did not find an association between the CTLA-4 +49?A/G and ?318?C/T polymorphisms and susceptibility to MS in Caucasian, Asian, and Arab populations.     

Meta-analysis reveals PTPN22 1858C/T polymorphism confers susceptibility to rheumatoid arthritis in Caucasian but not in Asian population

The PTPN22 1858C/T polymorphism is associated with rheumatoid arthritis (RA). However, reports from the Asian populations are conflicting in nature and lacks consensus. The aim of our study was to evaluate the association between the PTPN22 1858C/T polymorphism and RA in Asian and Caucasian subjects by carrying out a meta-analysis of Asian and Caucasian data. A total of 27?205 RA cases and 27?677 controls were considered in the present meta-analysis involving eight Asian and 35 Caucasian studies. The pooled odds ratios (ORs) were performed for the allele, dominant, and recessive genetic model. No statistically significant association was found between the PTPN22 1858C/T polymorphism and risk of RA in Asian population (allele genetic model: OR?=?1.217, 95% confidence interval (CI)?=?0.99–1.496, p value 0.061; dominant genetic model: OR?=?1.238, 95% CI?=?0.982–1.562, p value 0.071; recessive genetic model: OR?=?1.964, 95% CI?=?0.678–5.693, p value 0.213). A significant association with risk of RA in Caucasian population suggesting that T–– allele does confer susceptibility to RA in this subgroup was observed (allele genetic model: OR?=?1.638, 95% CI?=?1.574–1.705, p value p value p value PTPN22 1858C/T polymorphism is not associated with RA risk in Asian populations. However, our meta-analysis confirms that the PTPN22 1858C/T polymorphism is associated with RA susceptibility in Caucasians.     

Meta-Analysis: The Relationship Between CTLA-4 +49 A/G Polymorphism and Primary Biliary Cirrhosis and Type I Autoimmune Hepatitis

Objectives: CTLA-4 exon-1 +49A?>?G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous. This study aimed to determine more precise estimations for the relationship between CTLA-4 +49 A?>?G polymorphism and the risk for PBC and AIH-1 by using a meta-analysis.

Design and Methods: PubMed, EMBASE and MEDLINE were searched. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to estimate the strength of the association.

Results: Fifteen studies including 3661 patients with PBC and 4427 controls as well as seven studies including 1270 patients with AIH-1 and 1614 controls were identified. Our pooled analysis revealed that G allele of CTLA-4 gene +49A/G polymorphism may confer an increased risk of PBC in overall (p?=?0.001, OR?=?1.29; 95% CI?=?1.13–1.47) and Caucasians (p?=?0.001, OR?=?1.32; 95% CI?=?1.21–1.44). At genotypic level, the codominant, dominant and recessive models showed no significant association with PBC. With respect to AIH-1, the AG genotype demonstrated a trend for association with increased risk of AIH-1 (p?=?0.04, AG vs. AA, OR?=?1.20; 95% CI?=?1.01–1.43). However, the CTLA-4 alleles as well as genotypes in dominant and recessive models were not associated with a risk for AIH-1 in both Caucasians and Asians.

Conclusions: This meta-analysis concluded that the CTLA-4 G allele and the AG genotype were associated with an increased risk for PBC and AIH-1, respectively, suggesting the CTLA-4 +49 A/G polymorphism as a candidate of susceptibility locus to PBC and AIH-1.     

PTPN22 1858C > T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update

Studies performed in the past years showed PTNP22 1858?C?>?T (rs2476601) polymorphism as associated with systemic lupus erythematosus susceptibility, although conflicting findings are still found. In this context, a powerful statistical study, such as meta-analysis, is necessary to establish a consensus. The aim of this study was to evaluate association studies between the PTPN22 1858?C?>?T polymorphism and SLE by a meta-analysis update, including three recently published studies in the last three?years. A total of 3868 SLE patients and 7458 healthy individuals were considered herein, enclosing 19 studies from Asian, American, European and Latin ethnic groups. Odds ratio (OR) was performed for allelic, dominant and recessive genetic models. Statistically significant association was found between the PTPN22 1858?C?>?T polymorphism and susceptibility to SLE in all inheritance models. Allelic genetic model data (OR?=?1.54, 95% confidence interval (CI)?=?1.38–1.72, p value=.000) shows that T allele confers increased SLE susceptibility. As well as recessive genetic model (OR?=?2.04, 95% CI?=?1.09–3.82, p value?=?.030) for T/T genotype. Instead, dominant genetic model shows that C/C genotype confers lower susceptibility for SLE development (OR?=?0.62, 95% CI?=?0.54–0.72, p value?=?.000). In addition, we provided an ethnicity-derived meta-analysis. The results showed association in Caucasian (OR?=?1.47, p value?=?.000) and Latin (OR?=?2.41, p value?=?.000) ethnic groups. However, rs2476601 polymorphism is not associated nor in Asian (OR=?1.31; p value?=?.54) and African (OR?=?2.04; p value=.22) populations. In conclusion, present meta-analysis update confirms that T allele and T/T genotype in PTPN22 1858?C?>?T polymorphism confers SLE susceptibility, particular in Caucasian and Latin groups, suggesting PTPN22 1858?C?>?T as a potential genetic marker in SLE susceptibility.     

Interleukin-6-174G > C (rs1800795) polymorphism distribution and its association with rheumatoid arthritis: A case-control study and meta-analysis

The association of interleukin-6 (IL-6)-174G?>?C (rs1800795) single nucleotide polymorphism (SNP) with the risk of acquiring rheumatoid arthritis (RA) is a relevant issue because of conflicting and consensus lacking reports published in literature. We investigated IL-6-174G?>?C promoter polymorphism in 34 RA patients, attending a tertiary care hospital in north India. We also performed a meta-analysis, of the previously published studies reporting this genetic relationship, in overall population, and independently in Asian and Caucasian ethnicities to further elucidate this association. A total of 13 studies, including the current one, involving 3291 RA cases and 3812 controls were analyzed. Out of the 13 studies, 6 were from Asian, 6 from Caucasian and 1 from a mixed population. Our case-control study showed significant association of IL-6-174G?>?C SNP with increased RA risk: allelic (OR?=?3.750, 95% CI?=?1.800–7.813, p?<?0.001); dominant (OR?=?2.800, 95% CI?=?1.167–6.721, p?=?0.021); and recessive (OR?=?36.72, 95% CI?=?2.004–672.7, p?=?0.015). The meta-analysis revealed the increased RA risk associated with IL-6-174G?>?C SNP in overall population: allelic (OR?=?1.650, 95% CI?=?1.169–2.329, p?=?0.004); homozygous (OR?=?1.380, 95% CI?=?0.906–2.101, p?=?0.133); heterozygous (OR?=?1.559, 95% CI?=?1.001–2.428, p?=?0.049); dominant (OR?=?1.663, 95% CI?=?1.078–2.567, p?=?0.022); and recessive (OR?=?1.366, 95% CI?=?0.964–1.935, p?=?0.079). Subgroup analysis also showed this polymorphism to be associated with increased RA risk in Asian population: allelic (OR?=?3.724, 95% CI?=?1.361–10.190, p?=?0.010); dominant (OR?=?3.823, 95% CI?=?1.320–11.074, p?=?0.013); and recessive (OR?=?4.357, 95% CI?=?1.634–11.623, p?=?0.003), but not in Caucasian population. This meta-analysis shows that IL-6-174G?>?C SNP is significantly associated with increased RA risk in overall, and specifically in Asian population.     

Meta-Analysis of the Relationship between TNF-α (−308G/A) and IL-10 (−819C/T) Gene Polymorphisms and Susceptibility to Dengue

Objective: This study determined whether tumor necrosis factor alpha (TNF-α) and Interleukin-10 (IL-10) polymorphisms are associated with susceptibility to dengue.

Methods: a systematic review with meta-analysis was conducted of the associations between the TNF-α (?308G/A) and IL-10 (?819C/T) polymorphisms and dengue.

Results: A total of eight case-controls studies involving 384 individuals with symptomatic dengue, 571 individuals with dengue hemorrhagic fever, and 995 healthy controls were considered in the meta-analysis. There was no significant association between TNF-α (?308G/A) and IL-10 (?819C/T) polymorphism and dengue in overall population. However, stratifying meta-analysis by groups, the meta-analysis revealed association between the TNF-α ?308 G/G (OR: 1.62, CI: 1.02–2.57, p = 0.04) genotype and allele G (OR: 1.62, CI: 1.04–2.55, p = 0.03) that confers susceptibility to symptomatic dengue, while the TNF-α ?308 G/A genotype (OR: 0.69, CI = 0.39–0.99, p = 0.04) and allele A (OR: 0.64, CI: 0.41–1.00, p = 0.05) confers protection to symptomatic dengue. No difference was observed for the TNF-α (?308) and IL-10 (?819C/T) polymorphisms in the comparisons of hemorrhagic dengue versus control and hemorrhagic dengue versus symptomatic dengue.

Conclusion: This meta-analysis showed that TNF-α (?308) polymorphism is associated with dengue symptomatic susceptibility.     

The Association between the Polymorphisms in a Sodium Channel Gene SCN7A and Essential Hypertension: A Case‐Control Study in the Northern Han Chinese

Na_x, an α‐subunit of the sodium channel encoded by the SCN7A gene, has been deemed to be a sensor of the concentration of sodium in the brain and may be involved in salt intake behavior. We inferred that Na_x/SCN7A may participate in the regulation of blood pressure and the pathogenesis of essential hypertension (EH). The present case‐control study involving 615 hypertensives and 617 normotensives was performed to investigate the association between SCN7A polymorphisms and EH in the Northern Han Chinese population. The three common single nucleotide polymorphisms (SNPs) (rs3791251, rs6738031, rs7565062) in the exons of SCN7A were genotyped with the TaqMan assay. Significant association between SNP rs7565062 and EH was found under the addictive and dominant genetic models (P = 0.024, OR = 1.283, 95%CI [1.033–1.592]; P = 0.013, OR = 1.203, 95%CI [1.040–1.392]; respectively). The three SNPs were in close pair‐wise linkage disequilibrium with each other and the haplotype analyses indicated that haplotype G–A–T was significantly associated with increased risk of EH (P = 0.023, OR = 1.290). In conclusion, our data showed that SNP rs7565062 of SCN7A was significantly associated with EH and the allele T of rs7565062 or the related haplotype G–A–T will be a genetic risk factor for EH in the Northern Han Chinese population.     

Association Study of Matrix Metalloproteinases Gene Polymorphisms with Susceptibility to Rheumatoid Arthritis: A Meta-Analysis

Objective: Association of matrix metalloproteinases (MMPs) gene polymorphisms with rheumatoid arthritis is controversial. We conduct a meta-analysis to clarify this dispute.

Methods: We systematically searched the electronic PUBMED, EMBASE and CNKI databases for research articles about MMPs (MMP-1, MMP-2, MMP-3, MMP-9) gene polymorphisms and rheumatoid arthritis (RA) up to January 2015. According to the heterogeneity, fixed-effects or random-effects models were used to calculate crude odds ratios (ORs) and 95% confidence intervals (95% CIs).

Results: A total of 11 articles involving 2143 cases and 2049 controls were included in this meta-analysis. Overall, no significant associations were observed between MMP-1-1607 1G/2G polymorphism and RA. Stratification by ethnicity, no significant associations were observed in Caucasian populations. Similarly, no significant associations were observed between MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms and RA in overall and Caucasian populations, respectively. However, a weak association was found between MMP-2-1306 C/T polymorphism and RA (C vs. T, OR?=?0.813, 95%CI?=?0.694–0.953, p?=?0.010) in overall populations.

Conclusions: The present meta-analysis suggests that MMP-1-1607 1G/2G, MMP-3-1171 5A/6A, MMP-9-1562 C/T polymorphisms are not associated with the susceptibility of RA, but MMP-2 -1306 C/T is weakly associated with susceptibility to RA. Further studies with more sample size are needed for definitive conclusions.     

Association between CARD8 rs2043211 Polymorphism and Inflammatory Bowel Disease: A Meta-Analysis

Objective: The aim of this study was to determine whether caspase recruitment domain-containing protein 8 (CARD8) rs2043211 polymorphism was associated with susceptibility to inflammatory bowel disease (IBD).

Methods: Relevant studies were searched using PubMed and Embase up to February 2014. A meta-analysis was conducted on the association between rs2043211 polymorphism and IBD using: (1) allele contrast, (2) the dominant model, (3) the recessive model, and (4) homozygote contrast. The pooled estimated of risk was obtained by random-effects model or fixed-effects model. Publication bias was assessed by Egger’s test.

Results: Eight relevant articles with a total of 10?534 IBD patients [6785 Crohn’s disease (CD), 3713 ulcerative colitis (UC) and 36 indeterminate colitis (IC)] and 6755 healthy controls were included in the meta-analysis, which consisted of 12 studies, 12 for CD, 10 for UC, 2 for IC. There was no significant association between rs2043211 polymorphism and IBD, CD, and IC in overall population. However, stratified meta-analysis by ethnicity showed significant association between rs2043211 polymorphism and CD in the European population under the dominant model [odds ratio (OR)?=?1.210, 95% confidence interval (CI)?=?1.013–1.445, p?=?0.036] and homozygote contrast (OR?=?1.212, 95% CI?=?1.005–1.461, p?=?0.044).

Conclusions: Our meta-analysis results indicated significant association between rs2043211 polymorphism and the susceptibility to CD under the dominant model and homozygote contrast in the European population.     

Associations between interleukin-23R and interleukin-12B polymorphisms and psoriasis susceptibility: a meta-analysis

Objective: The aim of this study was to determine whether interleukin (IL)-23?R and IL-12B polymorphisms confer susceptibility to psoriasis.

Methods: The authors conducted a meta-analysis on associations between the IL-23?R and IL-12B polymorphisms and psoriasis susceptibility.

Results: A total of 14 comparison studies were included in this meta-analysis. The meta-analysis identified a significant association between psoriasis and 2 alleles of the rs11209026 and rs7530511 polymorphisms in Europeans (odds ratio [OR]?=?0.624, 95% confidence interval [CI]?=?0.565–0.697, p?<?1.0?×?10^?8; OR?=?0.804, 95% CI?=?0.743–0.869, p?=?3.0?×?10^?7, respectively). Meta-analysis of IL-12B showed a significant association between the 2 alleles of the rs6887695 and rs3212227 polymorphisms and the risk of developing psoriasis (OR?=?0.710, 95% CI?=?0.673–0.749, p?<?1.0?×?10^?8; OR?=?0.684, 95% CI?=?0.639–0.731, p?<?1.0?×?10^?8, respectively). Stratification by ethnicity identified an association between the rs6887695 and rs3212227 polymorphisms and psoriasis in Europeans.

Conclusions: This meta-analysis showed that the IL-23?R (rs11209026 and rs7530511) polymorphisms are associated with psoriasis risk in Europeans and that the IL-12B (rs6887695 and rs3212227) polymorphisms are associated with susceptibility to psoriasis in Europeans.     

Association between Q192R paraoxonase 1 polymorphism and serumadipocyte-fatty acid binding protein (FABP4) levels in Mexican women

Aim: This study aimed to evaluate the genetic effects of PON1 Q192R polymorphism on serum FABP4 levels in Mexican women.

Methods: PON1 Q192R polymorphism was genotyped using a TaqMan allelic discrimination assay and serum FABP4 concentration was measured using an enzyme-linked immunosorbent assay.

Results: The distribution of genotype frequencies in the assessed women (PON1 Q192R polymorphism) was QQ?=?20%, QR?=?48% and RR?=?32%. Significantly higher serum FABP4 levels were found in women with genotype QR/RR (20.6?±?2.20?ng/mL), when compared with the levels found in the QQ group (12.8?±?1.70?ng/mL) (p?=?.004). After, the odds ratio (OR) was calculated by binomial logistic regression analysis and a significantly higher OR was found in the QR/RR group when compared with the QQ group (OR?=?3.45; 95% CI?=?1.80–16.50; p?Conclusion: The results support an association between 192R-allele of the PON1 polymorphism (Q192R) and increased serum FABP4 levels (suggested as an early biomarker of CVDs risk) in assessed Mexican women.     

Association of XRCC3 gene rs861539 polymorphism with gastric cancer risk: evidence from a case-control study and a meta-analysis

The association between the X-ray repair cross-complementing group 3 (XRCC3) gene Thr241Met polymorphism (rs861539) and gastric cancer has been widely evaluated, but a definitive answer is so far lacking. We first conducted a case-control study to assess this association in a large Han Chinese population, and then performed a meta-analysis to further address this issue. Although our case-control association study and the following meta analysis involving 6,520 subjects indicated null association of XRCC3 gene rs861539 polymorphism between gastric cancer patients and controls under both allelic (odds ratio (OR) = 1.02; 95% confidence interval (CI): 0.91-1.14; P = 0.739) and dominant (OR = 0.97; 95% CI: 0.78-1.21; P = 0.803) models. Stratified analysis by ethnicity demonstrated a significant association in Asians. We conclude that the XRCC3 gene rs861539 polymorphism was associated with the risk for gastric cancer in Asian populations.     

Association of Toll-Like Receptor 4 Polymorphisms with Type 2 Diabetes Mellitus

Type 2 diabetes mellitus (T2DM) is characterized by a chronic low-grade inflammatory state. Toll-like receptor 4 (TLR4) is a critical mediator of innate immunity. Polymorphisms in TLR4 gene have been shown to be associated with impaired inflammatory response. Here, we investigated the association of TLR4 polymorphisms with T2DM. Four TLR4 polymorphisms (+986A/G, +1196C/T, +3725G/C, and +11367G/C) were genotyped in a total number of 822 T2DM patients and 835 healthy controls. Results showed that the +986A/G and +1196C/T polymorphisms did not exist in the Han Chinese population. The prevalence of TLR4 +3725GC and CC genotypes were significantly decreased in T2DM cases than in controls (odds ratio (OR)?=?0.62, 95 % confidence interval (CI)?=?0.50–0.78, p?=?3.48?×?10^?5, and OR?=?0.36, 95 % CI?=?0.22–0.59, p?=?1.55?×?10^?5, respectively). Also, the frequency of TLR4 +3725C allele was significantly lower in T2DM patients (p?=?2.46?×?10^?9). When analyzing the TLR4 +11367G/C polymorphism, the +11367CC genotype revealed lower numbers in patients compared to healthy controls (OR?=?0.46, 95 % CI?=?0.27–0.78, p?=?0.0032). Analysis of the clinical features on the control subjects demonstrated no correlations between these TLR4 polymorphisms and sex, age, body mass index, etc. (p?>?0.05). In conclusion, these data indicate that TLR4 +3725G/C and +11367G/C polymorphisms may be novel protective factors against T2DM in the Chinese population.     

The association between interleukin-6 polymorphisms and rheumatoid arthritis: a meta-analysis

Objective

The aim of this study was to determine whether the functional interleukin-6 (IL-6) promoter ?174 G/C and ?572 G/C polymorphisms confer susceptibility to rheumatoid arthritis (RA) in ethnically different populations.

Methods

Meta-analysis was conducted on the associations between these IL-6 polymorphisms and RA.

Results

A total of nine studies involving 3,851 subjects (RA 2,053 and controls 1,798) were considered in this study and ethnicity-specific meta-analysis was performed on European subjects. In all study subjects, meta-analysis revealed a trend toward to an association between RA and the IL-6 ?174 G allele (odds ratio [OR]?=?0.699, 95?% confidence interval [CI]?=?0.463–1.054, p?=?0.088). Stratification by ethnicity indicated a significant association between RA and the IL-6 ?174 G/C polymorphism in Europeans using the dominant (OR?=?0.329, 95?% CI?=?0.155–0.699, p?=?0.004) and recessive (OR?=?0.823, 95?% CI?=?0.679–0.997, p?=?0.047) models. Meta-analysis of the IL-6 ?572 G/C polymorphism showed no association between RA and the IL-6 ?572 G allele in all study subjects (OR?=?1.641, 95?% CI?=?0.613–4.397, p?=?0.324).

Conclusions

This meta-analysis shows that the IL-6 ?174 G/C polymorphism may confer susceptibility to RA in Europeans.     

The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population

Background: Mitofusion-2 (Mfn2) played an important role in regulating vascular smooth muscle cells proliferation, insulin resistance and endoplasmic reticulum stress, which were found to be involved in the development of hypertension. So we inferred that the Mfn2 gene may participate in the pathogenesis of hypertension. The aim of this study was to determine whether common single nucleotide polymorphisms (SNPs) in Mfn2 gene were associated with essential hypertension (EH) in northern Han Chinese.Methods: We genotyped 6 tagging SNPs of Mfn2 gene (rs2336384, rs2295281, rs17037564, rs2236057, rs2236058 and rs3766741) with the TaqMan assay in 626 hypertensive patients and 618 controls.Results: Logistic regression analysis indicated that CC+CA genotype of rs2336384 and AA+AG genotype of rs2236057 were significantly associated with increased risk of EH (OR=1.617, P=0.005; OR=1.418, P=0.031, respectively). GG genotype of rs2236058 and GG+CG genotype of rs3766741 were found to be significantly associated with decreased risk of EH (OR=0.662, P=0.023; OR=0.639, P=0.024).When stratified by gender, for rs2336384, rs2236057 and rs2236058, significant association was observed in males, but not in females. Haplotype analysis indicated that the CCAACC haplotype was positively correlated with EH and there was a negative correlation between ACAGGG haplotype and EH.Conclusions: This study demonstrated that Mfn2 gene polymorphisms were associated with essential hypertension in northern Han Chinese population, especially in male subjects.     

Study on influence of age,gender and genetic variants on lactose intolerance and its impact on milk intake in adult Asian Indians

Background: Lactase non-persistence (LNP) has been associated with the CC genotype of ?13910C?>?T and GG genotype of ?22018G?>?A polymorphisms present upstream of the lactase gene. Lactose intolerance (LI) is caused when gastrointestinal symptoms develop in individuals with low lactase activity.

Objective: To analyse association of LNP genotype and LI symptoms with milk intake and determine whether factors such as age, gender and genotype affect LI status.

Subjects and methods: Genetic analysis and lactose tolerance test (LTT) were performed on 205 healthy Indian adults. The pattern of milk consumption was recorded using a dietary questionnaire.

Results: LI was strongly associated with ?13910CC genotype (OR?=?10.28, 95% CI?=?2.32–45.55, p?=?0.002). Females were found to be at a higher risk of developing LI (OR?=?2.47, 95% CI?=?1.33–4.59, p?=?0.004). The association of the ≥50 years age group with LI was marginally significant (OR?=?1.86, 95% CI?=?0.995–3.47, p?=?0.05). Frequency and quantity of milk intake were lower in subjects belonging to the LNP genotype and LI groups (p?Conclusions: Subject study suggests that gender and genotype may be associated with development of LI. Association of age with LI was marginal. The data also indicate that LNP genotype and LI may play a role in influencing milk intake in individuals.     

eNOS基因G894T多态性与深静脉血栓形成的相关性研究

目的探讨内皮细胞型一氧化氮合酶（eNOS）基因G894T多态性与深静脉血栓形成（DVT）的相关关系。方法利用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）方法,检测103例DVT患者与250例正常对照一氧化氮合酶（eNOS）基因G894T基因多态,并加以对照分析。结果DVT组GG、GT和TT基因型频率分别为83.5%,14.56%和1.94%;对照组的基因型频率分别为89.6%,10.0%和0.4%。两组基因型频率与等位基因频率比较,差异无统计学意义（P〉0.05）。结论eNOS基因G894T多态可能不是河南汉族人群深静脉血栓形成的独立危险因素。