Allelic Genetic Models Research Articles

Coffee Intake Interacted with the Bcl-2 rs1944420, rs7236090, and rs2849382 Haplotype to Influence Breast Cancer Risk in Middle-Aged Women

We hypothesized that the haplotype of Bcl-2 genetic variants increases breast cancer risk and interacts with lifestyles in Korean women. We identified single nucleotide polymorphism (SNPs) of Bcl-2 associated with breast cancer risk after adjusting for covariates in 390 breast cancer patients and 36,726 women without any cancer that participated in the Korean Genomic Epidemiology Study (KoGES). An allelic genetic model showed that three SNPs (rs1944420, rs7236090, and rs2849382) in the Bcl-2 gene were significantly associated with breast cancer (ORs = 1.28, 0.84, and 0.79, respectively). The participants with the minor allele of the haplotype with three SNPs had 1.65-fold higher breast cancer risk than those with the major allele, after adjusting for covariates. Serum C-reactive protein concentration had a positive association with breast cancer risk. A significant interaction was also observed between the minor allele of the Bcl-2 haplotype and coffee intake (P = 0.03). A low coffee intake in women with the minor allele presented a higher breast cancer risk than a low coffee intake in those with the major allele. In conclusion, the risk of breast cancer risk was higher in post-menopausal women with the minor allele of the Bcl-2 haplotype, and consuming more than 1 cup of coffee per day reduced the risk. The results of this study could be applied to reduce the risk of breast cancer.

FVII gene R353Q polymorphism and coronary heart disease: a meta-analysis including 3258 subjects.

The coagulation factor VII (FVII) gene R353Q polymorphism is suggested to be relevant to the coronary heart disease (CHD) susceptibility. However, the results of separate studies are not consistent with one another. A meta-analysis including 3258 participants from nine studies was conducted to investigate the relationship between the FVII gene R353Q polymorphism and the CHD in the Chinese population. The fixed-effect models were used to assess the pooled odds ratios (ORs) and their corresponding 95% confidence intervals. A significant association was observed between the FVII gene R353Q polymorphism and the CHD in the Chinese population under allelic (OR 1.34, 95% CI 1.10-1.65, P = 0.004), dominant (OR 0.68, 95% CI 0.55-0.85, P = 0.0006), and heterozygous (OR 0.68, 95% CI 0.55-0.85, P = 0.0007) genetic models. The FVII gene R353Q polymorphism was significantly correlated with the CHD susceptibility in the Chinese population. Persons with the R allele of the FVII gene R353Q polymorphism might have greater CHD risk than others.

Associação entre os polimorfismos L55M e Q192R do gene da paraoxonase1 e a degeneração macular relacionada à idade: uma meta-análise

Paraoxonase-1 activity is associated with age-related macular degeneration. Two polymorphisms (L55M and Q192R) were shown to increase paraoxonase-1 activity and have been implicated in the development of age-related macular degeneration. The results of studies that have examined these polymorphisms are conflicting, showing no effect, as well as increased or decreased risk. Therefore, this meta-analysis was conducted to determine the effect of these polymorphisms on age-related macular degeneration.PubMed, EBSCO, LILACS, and Scopus databases, as well as and the retrieved bibliographies of publications were searched for case-control studies that examined for paraoxonase-1 polymorphisms and age-related macular degeneration. Data were analyzed using the Comprehensive Meta-Analysis Version 2.2 and the NCSS Statistical Version 2020 software. Genotype distributions were extracted and, depending on the level of heterogeneity, fixed effects or random effects models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) for the heterozygous, homozygous, dominant, recessive, and allelic genetic models.Overall, for the L55M polymorphism, none of the genetic models demonstrated a significant association. However, for non-Asian populations, a significant association was determined for the heterozygous and dominant genetic models (ORrange=1.24-1.27, p<0.05). For the Asian population, the heterozygous, dominant, and allelic genetic models demonstrated a benefit/protective factor (ORrange=0.29-0.35, p<0.05). For the Q192R polymorphism, none of the genetic models demonstrated a significant association. However, when the cohort was grouped by ethnicity, a significant association was determined in the Asian population for the recessive and allelic genetic models (ORrange=1.63-2.08, p<0.05). However, for the non-Asian population, there was no association observed. Also, there was no identifiable risk when the cohort was stratified into exudative and non-exudative cases.The paraoxonase-1L55M polymorphism increases the risk of developing age-related macular degeneration in non-Asian populations, whereas in Asian populations, the polymorphism exerts a protective effect. However, for the paraoxonase-1 Q192R polymorphism, only the Asian population demonstrated a risk of developing age-related macular degeneration.

Genetic predisposition of TNFα gene polymorphism in South-Indian Migraineurs and meta-analysis.

Migraine (Mg) is a multifaceted neurovascular disorder caused by genetic and several environmental etiologies. We have implemented a case-control study of TNFα gene polymorphism in 212 Mg patients and 218 healthy controls utilizing the ARMS-PCR technique, followed by Sanger sequencing. Besides, we have conducted a meta-analysis of different genetic models (five genetic models) to combine and summarize the available data from 11 studies (including this present research). The strength of genetic associations in the meta-analysis used to assess by the pooled odds ratio (OR) and 95% confidence intervals (CI). The results of this case-control study discovered a significant relationship with Mg in recessive and homozygous genotype with OR = 2.35 (95% CI [0.96-5.74]), p-value = 0.045. Also, the outcomes of meta-analysis suggested an irrelevant relationship between TNFα gene (rs1800629) polymorphism and Mg susceptibility in the five genetic models. However, subgrouping based on ethnic background showed a significant association in the allelic genetic model with OR = 1.53 (95% CI [1.02-2.31]), p = 0.040 respectively. The meta-analysis results of TNFα gene polymorphism may represent a risk factor for Mg among Asians. In the future, large scale, multicentric case-control study by classification of patients with Mg with or without aura can be performed worldwide to identify the potential genetic risk factors leading to Mg pathogenesis.

The Association Between the XRCC1 Arg399Gln Polymorphism and the Risk of Head and Neck Cancer: An Updated Meta-Analysis Including 14586 Subjects.

Background:Accumulated evidence shows that DNA repair gene X-ray repair cross complementing group 1 (XRCC1) may determine individual susceptibility to head and neck cancer (HNC) as a major DNA repair gene. However, the results from previous studies have been conflictive and inconsistent. In order to more accurately estimate and integrate the association between XRCC1 Arg399Gln polymorphism and HNC risk, we conducted a meta-analysis including 14586 subjects.Methods:In this meta-analysis, literatures were collected up until September 15, 2020 through multifarious retrieval strategies by searching through electronic databases of PubMed, Cochrane Library, EMBASE, Medline, Web of Science and CNKI. The association between the XRCC1 Arg399Gln polymorphism and HNC was analyzed through calculating summary odds ratios (OR) and 95% confidence intervals (CI).Results:Thirty-one studies consisting of 6025 cases and 8561 controls were identified and analyzed. No significant association between XRCC1 Arg399Gln polymorphisms and HNC risk was found under the allelic (OR = 0.94, 95% CI: 0.82-1.07, P = 0.35), homozygous (OR = 0.99, 95% CI: 0.81-1.21, P = 0.91), heterozygous (OR = 1.01, 95% CI: 0.90-1.13, P = 0.91), dominant (OR = 1.05, 95% CI: 0.85-1.29, P = 0.67) or recessive (OR = 0.93, 95% CI: 0.80-1.08, P = 0.35) genetic models in the overall comparison. In addition, subgroup analyses according to tumor site also displayed no significant association between XRCC1 Arg399Gln polymorphisms and HNC risk. However, subgroup analyses based on ethnicity indicated that HNC risk was significantly related to Arg399Gln genetic heterozygous model (OR = 1.21, 95%CI: 1.04-1.42, P = 0.02) and dominant model (OR = 1.27, 95%CI: 1.02-1.60, P = 0.04) in Caucasians populations.Conclusion:The results from this meta-analysis suggest that the XRCC1 Arg399Gln variants (Arg/Gln and Arg/Arg+Arg/Gln) may contribute to high HNC risk among Caucasians. Further well-designed studies and larger sample sizes are needed to validate our findings.

Association between TNF-α G-308A (rs1800629) polymorphism and susceptibility to chronic periodontitis and type 2 diabetes mellitus: A meta-analysis.

Although the association between tumor necrosis factor-α (TNF-α) G-308A (rs1800629) polymorphism and chronic periodontitis (CP), chronic periodontitis with type 2 diabetes mellitus (DP) is assumed, results of this association have been contradictory. The aim of this study was to assess the relationship between rs1800629 polymorphism and CP/DP susceptibility. We searched for studies on PubMed, Web of Science, MEDLINE, Chinese National Infrastructure, and WanFang databases. Study selection was performed using specific inclusion and exclusion criteria and fulfilled the PECO (participant, exposure, comparison, and outcome) format. The relationship between rs1800629 polymorphism and CP/DP susceptibility was evaluated by the effect summary odds ratio (OR) and 95% confidence intervals (CIs). Allele, dominant, and recessive genetic models were computed to assess the strength of the association. A total of 25 case-control studies were included in the analysis. In the Asian population, TNF-α rs1800629 polymorphism was found to be significantly associated with CP in the overall analyses and for all genetic contrasts, while no significant risks were found among Caucasian populations for all genetic contrasts. The TNF-α rs1800629 polymorphism was also associated with increased DP risk in Asians under the fixed-effects model, but not in the recessive comparison. The meta-analysis suggested that TNF-α rs1800629 polymorphism might affect the risk of CP and DP, particularly in individuals of Asian descent.

Association between Long Non-coding RNA POLR2E rs3787016 Polymorphism and Cancer Susceptibility: A Meta-analysis of 8725 Cancer Cases and 10710 Controls

Objectives: Several studies have reported a correlation between the POLR2E rs3787016 polymorphism and cancer development, but findings are inconsistent. Therefore, we designed the current study to understand how rs3787016 polymorphism impacts cancer susceptibility. Methods: We searched the Scopus, Web of Science, and PubMed databases for studies related to the topic of interest published up to March 2019. A total of 11 relevant studies, encompassing 8,761 cancer cases and 10,534 controls, were retrieved and subject to quantitative analysis. The strength of the relationship was evaluated using the pooled odds ratios (ORs) with 95% confidence intervals (CIs). Results: Overall, the findings proposed a positive association between rs189037 polymorphism and susceptibility to cancer in homozygous (OR = 1.32, 95% CI = 1.11 - 1.57, P = 0.002, TT vs. CC), recessive (OR = 1.21, 95% CI = 1.06-1.39, P = 0.005, TT vs. CT + CC), and allele (OR = 1.12, 95% CI = 1.02-1.22, P = 0.021, T vs. C) genetic models. Stratified analysis showed that rs3787016 increased the risk of prostate and breast cancer. In addition, we found a significant association between the variant and increased cancer risk in Asian and Caucasian populations. Conclusions: In summary, the findings of the current meta-analysis suggest that the POLR2E rs3787016 polymorphism is an indicator of cancer susceptibility.

Association between the A46G polymorphism (rs1042713) in the β2-adrenergic receptor gene and essential hypertension susceptibility in the Chinese population: A PRISMA-compliant meta-analysis.

Recently, many studies have been conducted to investigate the relationship between the A46G polymorphism in the β2-adrenergic receptor (ADRB2) gene and essential hypertension risk in the Chinese population. However, the results of previous studies were conflicting. The present study aimed to investigate the association between the ADRB2 A46G polymorphism and the risk of essential hypertension in the Chinese population. We performed a systematic search of possible relevant studies on PubMed, Embase, Ovid, Web of Science, China National Knowledge Infrastructure, Wanfang, and China Biology Medicine disc databases up to January 3, 2020. Two authors independently extracted information from included articles and assessed the quality of each study by the use of the Newcastle-Ottawa Scale. According to the extent of interstudy heterogeneity, either a random-effect model or a fixed-effect model was used to calculate the combined odds ratio (OR) and 95% confidence interval (CI). Finally, 16 studies containing 3390 cases and 2528 controls were included in our meta-analysis. Significant associations were found between the ADRB2 A46G polymorphism and essential hypertension risk in the Chinese population under four genetic models: allele genetic model (OR: 1.14, 95% CI: 1.06-1.23, P = .001, Pheterogeneity = .09), homozygote genetic model (OR: 1.29, 95% CI: 1.11-1.51, P = .001, Pheterogeneity = .25), dominant genetic model (OR: 1.17, 95% CI: 1.05-1.32, P = .005, Pheterogeneity = .04), and recessive genetic model (OR: 1.21, 95% CI: 1.05-1.38, P = .007, Pheterogeneity = .72). The ADRB2 A46G polymorphism may increase the risk of essential hypertension in the Chinese population.

Association of Polymorphism in IL-18 Gene with Periodontitis in Uyghur Adults in Xinjiang and Evidence from Six Case‐Control Studies with a Comprehensive Analysis

ABSTRACT Aim The aim of the study was to evaluate the association of IL‐18 137 G > C, 607 C > A gene polymorphism in Uyghur population with chronic periodontitis (CP) and combine the results with the meta-analysis Methods In a case‐control study, 200 cases with CP and 100 healthy controls were recruited; IL‐18 137 G > C, 607 C > A genotyping was performed by polymerase chain reaction‐restriction fragment length polymorphism (PCR-RFLP). In the meta‐analysis, we used electronic databases, including CNKI, Wan Fang, PubMed, EMBASE databases etc.to obtain relevant research published through June 2020. Studies were considered eligible if odds ratios (ORs) and 95% confidence intervals (95% CI) were provided or calculated from the given data. The size of the combined effect was calculated using STATA 15.0 Results Our study revealed significant association between CP and IL‐18 137 G > C (P = .045, OR = 1.67), 607 C > A (P = .045, OR = 1.67). The overall meta‐analysis revealed significant associations between IL‐18 137 G > C polymorphism and CP risk in Allele, dominant, co-dominant and recessive genetic models. The subgroup analysis also showed a significant association between the IL‐18 137 G > C and risk for periodontitis and aggressive periodontitis in the Asian (GC+ CC VS. GG: P = .047, OR = 1.64,95%CI = 1.01–2.68) Conclusions IL‐18 137 G > C, 607 C > A could be associated with susceptibility to periodontitis in Uyghur population. Further case-control of candidate genes studies targeting larger sample sizes and different ethnic groups are needed to arrive more accurate conclusions.

The association of interieukin-6 polymorphism (rs1800795) with microvascular complications in Type 2 diabetes mellitus.

Objectives: To evaluate the effects of the single-nucleotide polymorphism (SNP) rs1800795 in interieukin-6 (IL-6) gene on diabetic microvascular complications of Type 2 diabetes mellitus (T2DM), using statistical meta-analysis.Methods: Literature pertaining to the relationship between the SNP rs1800795 and microvascular complications of T2DM including diabetic retinopathy, diabetic nephropathy, diabetic neuropathy and foot disease was retrieved from PubMed, Web of Science Knowledge and SinoMed databases. Original information was analyzed using Stata 12.0, including meta-analysis statistics, test for heterogeneity, evaluation of publication bias and sensitivity. Subgroup analysis was conducted to assess the effect of specific factors on the corresponding results.Results: In total, 14 eligible articles were obtained. The SNP rs1800795 in IL-6 gene is not correlated with risk of microvascular complications in T2DM. Among the original literature, a genetic model (OR = 1.071, 95% CI: 0.681–1.685, P=0.767), an allelic genetic model (OR = 1.010, 95% CI: 0.959–1.063, P=0.703), a heterozygote genetic model (OR = 1.107, 95% CI: 0.916–1.339, P=0.292), a dominant genetic model (OR = 1.108, 95% CI: 0.885–1.387, P=0.372), and a recessive genetic model (OR = 0.978, 95% CI: 0.646–1.478, P=0.917) were included respectively. In the subgroup analysis by types of diabetic microvascular complications, we found no correlation between the SNP rs1000795 polymorphism and complications of T2DM in either the homozygote genetic model or the allelic genetic model (P<0.05).Conclusion: Our results demonstrate that rs1800795 polymorphism in IL-6 gene is not correlated with the susceptibility of microvascular complications of T2DM.

Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

BackgroundThe estrogen receptor-1 (ESR1) gene encodes estrogen receptor-α, which is a major biomarker in the development of breast cancer. This study aimed to investigate the effect of ESR1 polymorphisms on breast cancer in Chinese Han women. Materials and MethodsWe genotyped 4 candidate single nucleotide polymorphisms (SNPs) in ESR1 among 503 patients with breast cancer and 503 healthy people using the Agena MassARRAY platform. The association between ESR1 polymorphisms and breast cancer risk was evaluated using odds ratios (ORs) and 95% confidence intervals (95% CIs) under 4 genetic models. The HaploReg v4.1 and GEPIA database were used for SNP functional annotation and ESR1 expression analysis, respectively. ResultsThe T allele of rs9383938 in ESR1 was significantly associated with an increased breast cancer risk (OR, 1.26; 95% CI, 1.05-1.50; P = .013). In genetic models, rs9383938 increased breast cancer risk in the codominant model (OR, 1.54; 95% CI, 1.07-2.22; P = .021), the dominant model (OR, 1.31; 95% CI, 1.01-1.68; P = .040), and the additive model (OR, 1.24; 95% CI, 1.04-1.48; P = .017). Stratification analysis showed that rs9383938 and rs2228480 raised the breast cancer susceptibility in individuals aged younger than 52 years old. Rs1801132 of ESR1 was significantly associated with the status of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 in the allele model and genetic models (P < .05). ConclusionsThis study demonstrated that ESR1 polymorphisms might influence breast cancer susceptibility in the Chinese Han population. Further mechanism studies are needed to confirm the contribution of ESR1.

Association of MMP2 and MMP9 gene polymorphisms with the recurrent spontaneous abortion: A meta-analysis.

Recurrent spontaneous abortion (RSA) accounts for the most common complication of early pregnancy in humans. Matrix metalloproteinases (MMPs) play important regulatory roles in implantation and placentation to ensure a successful pregnancy. Single nucleotide polymorphisms (SNPs) have been identified in the promoters of MMP2 and MMP9 genes. However, the associations between MMP2 and MMP9 SNPs and the RSA risk remain unclear. The aim of this meta-analysis was to investigate whether MMP2 (-735C>T) and MMP9 (-1562C>T) SNPs are associated with the risk of RSA. Literatures published before 17th April 2020 were screened to identify the eligible studies. Heterogeneity, sensitivity and publication bias analysis were analyzed by the STATA software. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by the Review Manager software with fixed effects model. After screening, 2 studies for MMP2 (-735C>T) (278 RSA cases and 265 controls) and 4 studies for MMP9 (-1562C>T) (520 RSA cases and 512 controls) were enrolled in this meta-analysis. Results showed that MMP2 (-735C>T) presented a statistically significant association with the risk of RSA under allelic (T vs C: OR=1.50, 95% CI=1.14-1.98, P=0.004, I2=31%), heterozygote (CT vs CC: OR=1.74, 95% CI=1.22-2.50, P=0.003, I2=41%) and dominant (TT+CT vs CC: OR=1.74, 95% CI=1.23-2.45, P=0.002, I2=40%) genetic models. MMP9 (-1562C>T) in allelic (T vs C: OR=1.34, 95% CI=1.08-1.65, P=0.007, I2=0%), heterozygote (CT vs CC: OR=1.38, 95% CI=1.06-1.79, P=0.02, I2=0%) and dominant (TT+CT vs CC: OR=1.41, 95% CI=1.10-1.82, P=0.008, I2=0%) genetic models were significantly correlated with the RSA risk. Our meta-analysis results suggest that MMP2 -735T allele and MMP9 -1562T allele have significant association with the risk of RSA.

Association Between FokI Polymorphism of Vitamin D Receptor Gene and Lumbar Spine Disc Degeneration: A Systematic Review and Meta-Analysis.

The aim of the present meta-analysis was to explore the association between FokI polymorphism of the vitamin D receptor gene and lumbar spine disc degeneration. The search was performed in PubMed, Scopus, and Web of Science databases up to January 2020. The authors selected nine studies comprising a total of 1549 cases and 1672 controls. The association analysis included the allelic, dominant, recessive, homozygous, and heterozygous genetic models. Odds ratios with 95% confidence intervals were used to evaluate the association. The Newcastle-Ottawa Scale was used to measure the quality of the studies included in the analyses; a cut-off of 6 stars was applied. This meta-analysis indicated that FokI polymorphism is significantly associated with lumbar degenerative disc disorder and disc herniation in the homozygous (odds ratio, 1.77; 95% confidence interval, 1.23-2.54; Z test P = 0.002, Q test P = 0.416) and recessive (odds ratio, 1.53; 95% confidence interval, 1.23-1.90; Z test P < 0.000, Q test P = 0.224) models. This study indicates that the vitamin D receptor gene FokI polymorphism may be correlated with the risk of developing a lumbar degenerative disc disorder and disc herniation. However, the small sample population studied and the lack of an evaluation of environmental factors must be taken as limitations in the present meta-analysis.

Associations of the LPL S447X and Hind III Polymorphism with Type 2 Diabetes Mellitus Risk: A Meta-Analysis.

The present study was aimed to evaluate the association of lipoprotein lipase (LPL) gene (S447X and Hind III) polymorphisms and T2DM. Relevant studies were identified through systematic search PubMed, Cochrane Library, Embase, Wanfang, CNKI databases. A total of 22 studies (8 studies for LPL S447X and 14 studies for Hind III) were included. The results showed that the LPL S447X polymorphism was associated with the low risk of T2DM under dominant and allelic genetic models. Subgroup analysis by ethnicity showed that the LPL S447X polymorphism was associated with a decreased risk of T2DM in the Asian population (under dominant, heterozygous and allelic genetic models). In addition, we found that X allele carriers of S447X polymorphism is associated with low levels of TC, TG, and LDL. In subgroup analysis, Hind III polymorphism was associated with low risk of T2DM in Asian populations (under dominant, heterozygote, allele genetic models). Moreover, the carriers of H allele of Hind III have lower levels of TG, and higher levels of HDL-C. This meta-analysis demonstrated that 447X carriers and H allele in LPL gene associated with low risk of T2DM, which may due to in part to the change of serum level of TC, TG, LDL, and HDL.

Association of TNF-α-308G/A, -238G/A, -863C/A, -1031T/C, -857C/T polymorphisms with periodontitis susceptibility: Evidence from a meta-analysis of 52 studies.

The association between tumor necrosis factor-alpha (TNF-α-308G/A, -238G/A, -863C/A, -1031T/C, and -857C/T) polymorphism and either chronic (CP) or aggressive (AgP) periodontitis susceptibility was conflicting. This meta-analysis aimed to quantitatively estimate the association.A total of 52 studies involving 5519 patients and 7260 controls were identified through a search of multiple electronic databases. Odds ratios (ORs) and their 95% confidence intervals using allele, homozygous, heterozygous, dominant, and recessive genetic models were computed to assess the strength of the association.The TNF-α-308G/A polymorphism was significantly associated with decreased risks of CP (GG vs AA: OR = 0.353, P < .001; GG+GA vs AA: OR = 0.480, P < .001) and AgP (G vs A: OR = 0.651, P < .001; GG vs AA: OR = 0.306, P < .001; GG+GA vs AA: OR = 0.384, P < .001) in Asians. There were no associations between TNF-α-238G/A, -863C/A, -1031T/C, -857C/T polymorphism and susceptibility to AgP. No associations were also found between CP susceptibility and TNF-α-238G/A, -857C/T polymorphism.These findings supported that TNF-α-308G/A polymorphism might be the protective factors of CP and AgP in Asians, and TNF-α-238G/A, -863C/A, -1031T/C, -857C/T polymorphism is not linked to AgP susceptibility.

Association between gene polymorphisms of TGF-β and Smad3 and susceptibility to arthritis: a meta-analysis

ABSTRACT Objectives This meta-analysis was performed to investigate the associations between single-nucleotide polymorphisms (SNPs) in the TGF- β and Smad3 genes and arthritis. Methods A meta-analysis was performed in STATA 14.0, with publication bias and meta-regression analysis. All types of arthritis were included, and subgroup analyses were performed to interpret variations among different types of arthritis. Results Twenty-two qualified studieswere selected to analyze the pooled accuracy, and 4 SNP sites were involved. The analysis of the TGFB1 SNP rs1800470 showed an association with arthritis in allelic (P = 0.011), homozygous (P = 0.034) and recessive (P = 0.021) genetic models. The analysis of the TGFB1 SNP rs1800471 demonstrated a close association with rheumatoid arthritis (RA) in homozygous (P = 0.000, 95%) and recessive (P = 0.008) models. The analysis of the SMAD3 SNP rs12901499 revealed a close association with osteoarthritis (OA) in the allelic (P = 0.001) model. Conclusion This research showed that genetic variants of the TGF-β pathway impact arthritis. The polymorphisms rs1800470, rs1800471 and rs12901499 were correlated with a higher prevalence of arthritis.

Association between IL-27 Gene Polymorphisms and Cancer Susceptibility in Asian Population: A Meta-Analysis.

Background:Interleukin 27 (IL-27) has potent antitumor activity. Several epidemiological studies have designated that genetic variants of the IL-27 gene may contribute to various cancer susceptibility, but the data were inconclusive. Objective:The current meta-analysis aimed to address the association between IL-27 rs153109, rs17855750, and rs181206 polymorphisms and the risk of cancer. Data Sources:Our team has selected eligible studies up to May 1, 2020, from several electronic databases, including Web of Science, PubMed, Scopus, and Google Scholar databases. Results: Our meta-analysis revealed that the carriers rs153109 A>G polymorphism in the IL-27 gene have higher risks of diseases in the heterozygous (OR=1.26, 95%CI=1.06-1.49, P=0.007, AG vs AA), homozygous (OR=1.18, 95%CI=1.01-1.37, p=0.33, GG vs AA), dominant (OR=1.25, 95%CI=1.07-1.47, P=0.006, AG+GG vs AA), and allele (OR=1.15, 95%CI=1.04-1.27, P=0.008, G vs A) genetic models. Stratified analysis by cancer type indicated that this variant was significantly associated with gastrointestinal cancer, colorectal cancer and breast cancer. The findings did not support an association between rs17855750 T>G, rs181206 T>C polymorphisms of IL-27 and cancer risk. Conclusion:the current study findings suggest that IL-27 rs153109 polymorphism significantly increased the risk of cancer susceptibility. Well-designed replication in a larger independent genetic association study with larger sample sizes in diverse ethnicities is required to verify the findings.

Rs10490924 surrounding HTRA1/ARMS2 regulates the susceptibility of age-related macular degeneration

Multiple studies have assessed the contribution of rs10490924 on chromosome 10q26 surrounding HTRA1/ARMS2 gene to age-related macular degeneration (AMD) risk. However, the causal allele at this locus is still inconclusive. In this meta-analysis, we systematically characterized the potential association between rs10490924 polymorphism and AMD risk. Data available from 12 case-control studies, including a total of 5244 cases and 2755 controls in three different ethnic populations, were used to evaluate the correlation between rs10490924 G/T polymorphism (Ala69Ser) and AMD risk. In overall populations, the results indicated the Ala69Ser polymorphism was significantly associated with AMD under allelic (OR = 0.35, 95% CI = 0.30–0.40), homozygous (OR = 0.12, 95%CI = 0.09–0.17), dominant (OR = 0.18, 95%CI = 0.14–0.24), recessive (OR = 0.33, 95%CI = 0.28–0.39), and heterozygous genetic models (OR = 0.26, 95% CI = 0.21–0.33). Similar results were observed in subgroup analysis. This meta-analysis suggests that rs10490924 (Ala69Ser) polymorphism was significantly associated with the susceptibility of AMD in all ethnicities, Ala69 carriers are resistant to AMD risk.

APOE rs405509 polymorphism and Parkinson’s disease risk in the Chinese population

Parkinson’s disease (PD) is the second most common progressive neurodegenerative disorder with complex etiology involving both genetic and environmental factors. Apolipoprotein E (ApoE) rs405509 (−219 T/G), a promoter SNP, controls the expression of APOE gene, and plays a modifier effect of APOE ε4 on the susceptibility of Alzheimer’s disease. In this study, we investigate the association between APOE rs405509 polymorphism and the susceptibility of PD in a Chinese population. A total of 1020 subjects were collected including 510 sporadic PD patients (mean age: 63.11 ± 9.28 years) and 510 healthy control subjects (mean age: 62.97 ± 9.09 years). APOE rs405509 polymorphism was genotyped using a TaqMan genotyping method. The Hardy-Weinberg Equilibrium (HWE) was calculated for the control group by Chi-square (χ2) test. The strength of this association between the APOE rs405509 polymorphism and PD risk was evaluated with crude odds ratios (ORs) and 95 % confidence intervals (CIs) using a logistic regression analysis. The T allele frequency was 0.84 and 0.70 in the PD and control groups, respectively. T allele carriers of rs405509 were associated with an increased overall risk of PD and in male subjects in the allele, recessive, and additive genetic models. Similar results in female subjects were found in the allele and recessive genetic models. In conclusion, our study suggests that the APOE rs405509 T allele is correlated with increased susceptibility of PD in a Chinese population.

Association of miR-27a polymorphism with the risk of digestive system cancers

BackgroundCancer of the digestive system is a common cancer and results in high mortality rates world-wide. miR-27a polymorphism has been associated with an increased risk of digestive system cancers; however, this has not been conclusively shown yet. Therefore, to clarify this, we conducted a comprehensive meta-analysis. MethodsPubMed, EMBASE, OVID and Cochrane Library databases were comprehensively searched to retrieve eligible studies published up to May 10, 2020 that referred to digestive cancers. Odds ratios and the corresponding 95 % confidence intervals (CI) were used when calculating the relationship between miR-27a rs895819 polymorphism and susceptibility to digestive cancers. ResultsA significant correlation between the miR-27a rs895819 polymorphism and the presence of digestive system cancers was found in four genetic models, which were the homozygote, dominant, recessive, and allele genetic models (GG vs AA: OR = 1.210, 95 %CI = 1.020–1.436, P = 0.029; GG + AG vs AA: OR = 1.092, 95 %CI = 1.024–1.164, P = 0.007; GG vs AG + AA: OR = 1.182, 95 %CI = 1.005–1.390, P = 0.044; G vs A: OR = 1.099, 95 %CI = 1.046–1.154, P < 0.001). Hierarchical analysis by ethnicity suggested that miR-27a rs895819 significantly increased the risk of digestive system cancers in the Asian population, but not in Caucasians. Additionally, rs895819 polymorphism was found to be significantly associated with colorectal cancer and gastric cancer. ConclusionsThe miR-27a rs895819 polymorphism may be associated with an increased risk for digestive system cancers.