<Emphasis Type="Italic">PARP-1</Emphasis> Val762Ala polymorphism is associated with reduced risk of non-Hodgkin lymphoma in Korean males

Background  

Poly(ADP-ribose) polymerase-1 (PARP-1) is a nuclear enzyme that plays a role in DNA repair, differentiation, proliferation, and cell death. The polymorphisms of PARP-1 have been associated with the risk of various carcinomas, including breast, lung, and prostate. We investigated whether PARP-1 polymorphisms are associated with the risk of non-Hodgkin lymphoma (NHL).     

Survival bias and drug interaction can attenuate cross-sectional case-control comparisons of genes with health outcomes. An example of the kinesin-like protein 6 (<Emphasis Type="Italic">KIF6</Emphasis>) Trp719Arg polymorphism and coronary heart disease

Background  

Case-control studies typically exclude fatal endpoints from the case set, which we hypothesize will substantially underestimate risk if survival is genotype-dependent. The loss of fatal cases is particularly nontrivial for studies of coronary heart disease (CHD) because of significantly reduced survival (34% one-year fatality following a coronary attack). A case in point is the KIF6 Trp719Arg polymorphism (rs20455). Whereas six prospective studies have shown that carriers of the KIF6 Trp719Arg risk allele have 20% to 50% greater CHD risk than non-carriers, several cross-sectional case-control studies failed to show that carrier status is related to CHD. Computer simulations were therefore employed to assess the impact of the loss of fatal events on gene associations in cross-sectional case-control studies, using KIF6 Trp719Arg as an example.     

<Emphasis Type="Italic">TCF7L2</Emphasis> and therapeutic response to sulfonylureas in patients with type 2 diabetes

Background  

Variants in the TCF7L2 have been shown to be associated with an increased risk for type 2 diabetes (T2D). Since the association with diabetes could be explained by effects on insulin secretion, we investigated whether patients with diabetes risk alleles at rs7903146 might have an altered hypoglycaemic response to sulfonylureas (SUs).     

Functional polymorphisms in <Emphasis Type="Italic">XRCC</Emphasis>-<Emphasis Type="Italic">1</Emphasis> and <Emphasis Type="Italic">APE</Emphasis>-<Emphasis Type="Italic">1</Emphasis> contribute to increased apoptosis and risk of ulcerative colitis

Objective  

The present study was designed to investigate the role of X-ray cross-complementing group 1 (XRCC1) and apurinic/apyrimidinic endonuclease 1 (APE1) polymorphisms in apoptosis and the risk of ulcerative colitis (UC).     

Polymorphisms of the Flavin containing monooxygenase 3 (<Emphasis Type="Italic">FMO3</Emphasis>) gene do not predispose to essential hypertension in Caucasians

Background  

The recessive disorder trimethylaminuria is caused by defects in the FMO3 gene, and may be associated with hypertension. We investigated whether common polymorphisms of the FMO3 gene confer an increased risk for elevated blood pressure and/or essential hypertension.     

Associations between <Emphasis Type="Italic">ERAP1</Emphasis> polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis

Objective  

The aim of this study was to determine whether five polymorphisms of endoplasmic reticulum aminopeptidase 1 (ERAP1) confer susceptibility to ankylosing spondylitis (AS).     

Maternal angiotensinogen (<Emphasis Type="Italic">AGT</Emphasis>) haplotypes,fetal renin (<Emphasis Type="Italic">REN</Emphasis>) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data

Background  

Preeclampsia is a debilitating disorder affecting approximately 3% of pregnant women in the Western world. Although inconclusive, current evidence suggests that the renin-angiotensin system may be involved in hypertension. Therefore, our objective was to determine whether the genes for placental renin (REN) and maternal angiotensinogen (AGT) interact to influence the risk of preeclampsia.     

Sequencing of DC-SIGN promoter indicates an association between promoter variation and risk of nasopharyngeal carcinoma in cantonese

Background  

The dendritic cell-specific intercellular adhesion molecule 3 grabbing non-integrin (DC-SIGN) is an important pathogen recognition receptor of the innate immune system. DC-SIGN promoter variants play important role in the susceptibility to various infectious diseases. Nasopharyngeal carcinoma (NPC) is a malignancy that is common in southern China and whether DC-SIGN promoter variants have effects on susceptibility to NPC is still unknown. The aim of this study is to ascertain the potential involvement of DC-SIGN promoter single nucleotide polymorphisms (SNPs) in NPC susceptibility.     

<Emphasis Type="Italic">E. coli</Emphasis> lipopolysaccharide attenuates adenosine A<Subscript>1</Subscript> receptor-mediated increase in plasma exudation from the hamster cheek pouch

Objective and design  

To determine whether exposure to E. coli lipopolysaccharide (LPS) modulates adenosine A₁ receptor-induced increase in plasma exudation from the intact hamster cheek pouch microcirculation.     

Evaluation of <Emphasis Type="Italic">SLC11A1</Emphasis>as an inflammatory bowel disease candidate gene

Background  

Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1.     

Association Between Hepatitis B Viral Burden in Chronic Infection and a Functional Single Nucleotide Polymorphism of the <Emphasis Type="Italic">PDCD1</Emphasis> Gene

Background  

PD-1, encoded by PDCD1, is highly expressed on virus-specific T cells and plays critical roles in modulating anti-virus immune responses in chronic viral infection. It is unknown, however, whether polymorphisms of the PDCD1 are associated with viral clearance during chronic viral infections.     

Association between <Emphasis Type="Italic">CFL1</Emphasis>gene polymorphisms and spina bifida risk in a California population

Background  

CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin depolymerizing and cellular activity during neural tube closure. Such alterations may be associated with an increased risk for neural tube defects (NTDs).     

Ovarian dysfunction and <Emphasis Type="Italic">FMR1</Emphasis> alleles in a large Italian family with POF and FRAXA disorders: case report

Background  

The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGG_n< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles.     

Exclusion of <Emphasis Type="Italic">PINK1</Emphasis> as candidate gene for the late-onset form of Parkinson's disease in two European populations

Background  

Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether PINK1 contributes to the risk of common late-onset PD we analysed PINK1 sequence variations. A German (85 patients) and a Norwegian cohort (90 patients) suffering from late-onset PD were screened for mutations and single nucleotide polymorphisms (SNPs) in the PINK1 gene. Both cohorts consist of well-characterized patients presenting a positive family history of PD in ~17%. Investigations were performed by single strand conformation polymorphism (SSCP), denaturating high performance liquid chromatography (DHPLC) and sequencing analyses. SNP frequencies were compared by the χ² test     

Additive effects of <Emphasis Type="Italic">LPL</Emphasis>, <Emphasis Type="Italic">APOA5</Emphasis> and <Emphasis Type="Italic">APOE</Emphasis>variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

Background  

Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information.     

Association analysis of <Emphasis Type="Italic">PON2</Emphasis> genetic variants with serum paraoxonase activity and systemic lupus erythematosus

Background  

Low serum paraoxonase (PON) activity is associated with the risk of coronary artery disease, diabetes and systemic lupus erythematosus (SLE). Our prior studies have shown that the PON1/rs662 (p.Gln192Arg), PON1/rs854560 (p.Leu55Met), PON3/rs17884563 and PON3/rs740264 SNPs (single nucleotide polymorphisms) significantly affect serum PON activity. Since PON1, PON2 and PON3 share high degree of structural and functional properties, in this study, we examined the role of PON2 genetic variation on serum PON activity, risk of SLE and SLE-related clinical manifestations in a Caucasian case-control sample.     

No association between variation in the <Emphasis Type="Italic">NR4A1</Emphasis> gene locus and metabolic traits in white subjects at increased risk for type 2 diabetes

Background  

The nuclear receptor NR4A1 is implicated in metabolic regulation in insulin-sensitive tissues, such as liver, adipose tissue, and skeletal muscle. Functional loss of NR4A1 results in insulin resistance and enhanced intramuscular and hepatic lipid content. Therefore, we investigated in a cohort of white European subjects at increased risk for type 2 diabetes whether genetic variation within the NR4A1 gene locus contributes to prediabetic phenotypes, such as insulin resistance, ectopic fat distribution, or β-cell dysfunction.     

Associations between <Emphasis Type="Italic">TNFAIP3</Emphasis> gene polymorphisms and rheumatoid arthritis: a meta-analysis

Objective  

The aim of this study was to determine whether tumor necrosis factor alpha inducible protein 3 (TNFAIP3) polymorphisms confer susceptibility to rheumatoid arthritis (RA) in ethnically different populations.