The association between adiponectin gene rs182052 polymorphism and cancer risk: a meta-analysis

Background: The evidence for an association between the adiponectin gene (ADIPOQ) polymorphism rs182052 and cancer risk is inconsistent. We performed a meta-analysis to obtain more precise conclusions. Methods: The PubMed, Embase, and Web of Science databases were searched until July 11, 2019. And seven epidemiology studies were retrieved, including 4,929 cases and 5,625 controls. Odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) were calculated to evaluate the strength of the association. Results: The meta-analysis demonstrated that rs182052 significantly increased the risk of cancer under the allele, homozygote, dominant, and recessive models, based on an overall analysis (A vs. G: OR, 1.09, 95% CI, 1.03–1.15, P=0.003; AA vs. GG: OR, 1.20, 95% CI, 1.07–1.34, P=0.002; AA+GA vs. GG: OR, 1.12, 95% CI, 1.03–1.22, P=0.010; AA vs. GA+GG: OR, 1.12, 95% CI, 1.01–1.23, P=0.025). In the stratified analysis by ethnicity, rs182052 significantly increased the cancer risk in both Asian and Caucasian populations under one or several genetic models. In the stratified analysis by cancer type, rs182052 significantly increased the risk of renal cell carcinoma (RCC) under the five models. Conclusions: Meta-analysis based on present studies suggests that rs182052 can increase the cancer risk.

The role of cytochrome P450 gene rs1126742 polymorphism and risk of hypertension: a systematic review and meta-analysis

Background: CYP4A11 gene T8590C (rs1126742) is proved to be an important locus that is relevant to hypertension. Various research on the relationship between rs1126742 polymorphism and hypertension have been published, but due to small sample sizes and limitations of the research objects, the combined results remain controversial. Methods: We searched PubMed, Embase, OVID, Web of Science, Wan Fang, and CNKI databases for related articles. Three authors individually extracted data and the quality of studies was evaluated by using the 9-point Newcastle–Ottawa Scale (NOS) independently. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in different genetic models by using a random-effect model or fixed-effect model according to inter-study heterogeneity. Besides, subgroup analysis and sensitivity analysis were performed and the publication bias was assessed. Results: There were totally 12 independent case–control studies of 8673 cases and 6611 controls included. Significant associations were found between CYP4A11 gene T8590C polymorphism and hypertension under all genetic models (allele, homozygote, heterozygote, recessive, and dominant model). We also found that there was no obvious relationship between the rs1126742 polymorphism and hypertension in Asian. But positive association has been found in Caucasian in allele, homozygote, and recessive model. Conclusions: CYP4A11 gene T8590C (rs1126742) polymorphism increases the occurrence of hypertension, particularly in Caucasian.

The influence of maternal and child FADS genotype on cord blood polyunsaturated fatty acid (PUFA) concentrations

Optimal maternal polyunsaturated fatty acid (PUFA) status is essential for foetal development. The desaturase enzymes, encoded by the fatty acid desaturase (FADS) genes, are involved in the endogenous synthesis of long chain (LC)PUFA and influence maternal LCPUFA concentrations. The minor allele of various FADS SNPs has been associated with increased maternal concentrations of the precursors linoleic acid (LA) and α-linolenic acid (ALA), and lower concentrations of the LCPUFA arachidonic acid (AA) and docosahexaenoic acid (DHA); however, there is limited research to date on the influence of FADS genotype on cord PUFA status. The aim of the current study was to investigate the influence of maternal and child genetic variation on cord blood PUFA status in a high fish-eating cohort.Cord blood samples collected from mother-child pairs (n = 1088) taking part in the Seychelles Child Development Study (SCDS) Nutrition Cohort 2 (NC2) were analysed for total serum PUFA. Maternal (n = 1088) and child genotype (n = 592) were determined for the FADS SNPs rs174537, rs174561, rs174575, and rs3834458. Regression analysis determined associations between maternal and child FADS genotype and cord PUFA status. In all regression models, the major allele homozygote genotype for each SNP was used as the reference group.Directions of significant associations were as predicted. In mothers, the minor allele homozygote genotype for SNPs rs174537, rs174561 and rs3834458 was associated with lower cord DHA and lower total n-3 PUFA when compared to the major allele homozygous genotype (p < 0.05 for all). The heterozygous genotype was associated with increased concentrations of LA compared to the reference genotype for rs174561 (p = 0.021) and rs383448 (p = 0.023). In children, the heterozygous genotype was associated with lower AA concentrations and lower cord n-6:n-3 ratio for all SNPs (p < 0.05 for all) compared to those with the major allele homozygous genotype. A lower cord AA:LA ratio was also observed for children heterozygous for rs174547, rs174561 and rs174575 (p < 0.05 for all). Contrary to expected, there were no associations between cord PUFA concentrations and child minor allele homozygous genotype.The current study indicates that variation in maternal and child FADS genotype influences cord PUFA concentrations, despite the high intake of preformed dietary LCPUFA from fish in this population. The sample size for minor allele homozygous children was likely too small to observe any statistically significant associations in the current analysis. Further research is needed to determine whether increased dietary intake can compensate for lower PUFA status as a result of FADS genotype.

Influence of IL2RA rs2104286 Polymorphism in the Risk of Biopsy-proven Giant Cell Arteritis

Objective.To assess the influence of the IL2RA rs2104286 A>G polymorphism on susceptibility to and clinical spectrum of manifestations of biopsy-proven giant cell arteritis (GCA).Methods.Our study included 318 patients with biopsy-proven GCA. DNA from patients and healthy controls was obtained from peripheral blood. Samples were genotyped for the IL2RA rs2104286 A>G polymorphism using a predesigned TaqMan allele discrimination assay and by PCR amplification.Results.Although GCA patients showed a higher frequency of the minor allele homozygote of IL2RA rs2104286 (GG) compared to controls (5.1% vs 2.8%, respectively; p = 0.06, odds ratio 1.84, 95% confidence interval 0.91–3.70), the allele distribution showed no significant differences between GCA patients and controls. Stratification of GCA patients according to sex or polymyalgia rheumatica, jaw claudication, visual ischemic manifestations, or other severe ischemic complications did not yield significant differences in the allele or genotype frequencies of the IL2RA rs2104286 polymorphism.Conclusion.IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for susceptibility to biopsy-proven GCA. Also, this polymorphism does not seem to be implicated in the clinical expression of this vasculitis.

The C677T Polymorphism inMTHFRIs Not Associated with Migraine in Portugal

Migraine is a debilitating disorder affecting a large proportion of the population. The effect of methylenetrathydrofolate reductase (GeneID: 4524) polymorphisms in migraine etiology and development has been a theme of great interest. Several populations were evaluated with contradictory results. In this case-control study, we investigated the effect of the C677T polymorphism inMTHFR, as a genetic risk factor for migraine, in the Portuguese population. We observed that, overall, there was no significant difference in the frequencies ofMTHFRC677T genotypes or of the T-allele among the Portuguese migraineurs when compared to controls. There was also no association of migraine with aura withMTHFRgenotypes or with the T-allele, in contrast with previous studies. Regarding the risk of the T-allele homozygote carriers, there was an equal probability to develop migraine with aura over migraine without aura in our patients. Thus, we conclude that the C677TMTHFRpolymorphism, responsible for a reduction of the MTHFR activity in folate metabolism, is not a major genetic susceptibility factor for migraine in the Portuguese population.