Association ofApolipoprotein A1-C3Gene Cluster Polymorphisms with Gallstone Disease

INTRODUCTION: Genetic polymorphisms in apolipoprotein genes may be associated with alteration in lipid profile and susceptibility to gallstone disease.AIM: To determine the association betweenapolipoprotein A1(APOA1) (−75 guanine [G] to adenine [A] and +83/84 M2+/−,MspI) andapolipoprotein C3(APOC3) (SstI) polymorphisms with gallstone disease.METHODS:MspIpolymorphisms of theAPOA1gene andSstIpolymorphisms ofAPOC3were analyzed in DNA samples of 214 gallstone patients and 322 age- and sex-matched healthy controls. All statistical analyses were performed using SPSS version 11.5 (SPSS, USA) and Arlequin version 2.0 (Arlequin, Switzerland).RESULTS: TheAPOA1−75 G/A polymorphism was significantly associated with gallstone disease. Patients with the GG genotype (P=0.015) and G allele carriers (P=0.004) had a significantly higher risk of gallstone disease (1.087-fold and 1.561-fold, respectively), whereas patients with AA genotypes (P=0.011) and A allele carriers (P=0.004) were protected (OR 0.230 and 0.641, respectively) against gallstone disease.APOA1+83 M2+/−andAPOC3 SstIpolymorphisms were not associated with gallstone disease. Case-control analysis of haplotypes showed a significant association in males only. G-M2+-S1 conferred risk for gallstone disease (P=0.036; OR 1.593, 95% CI 1.029 to 2.464), while A-M2+-S1 was protective (P=0.002; OR 0.370, 95% CI 0.197 to 0.695) against gallstone disease. InAPOA1−75-APOA1+83bilocus haplotypes, G-M2+was associated (P=0.0001) with very high risk (OR 3.173, 95% CI 1.774 to 5.674) for gallstone disease in males only.APOA1−75-APOC3SstIhaplotypes also showed significant association whileAPOA1+83-APOC3SstIhaplotypes showed no association with gallstone disease.CONCLUSIONS: TheAPOA1−75 G/A polymorphism is associated with gallstone disease and shows sex-specific differences. On the other hand,APOA1M2+/−andAPOC3 SstIpolymorphisms may not be associated with gallstone disease. Haplotype analysis is a better predictor of risk for gallstone disease.

Download Full-text

Association of intronic repetition of SLC26A4 gene with Hashimoto thyroiditis disease

Genetics Research ◽

10.1017/s0016672313000037 ◽

2013 ◽

Vol 95 (1) ◽

pp. 38-44 ◽

Cited By ~ 2

Author(s):

SALIMA BELGUITH-MAALEJ ◽

RIHAB KALLEL ◽

MOUNA MNIF ◽

MOHAMED ABID ◽

HAMMADI AYADI ◽

...

Keyword(s):

Positive Association ◽

Hashimoto Thyroiditis ◽

Case Control ◽

Control Analysis ◽

Autoimmune Thyroid ◽

Specific Analysis ◽

Kolmogorov Smirnov ◽

Polymorphic Microsatellite ◽

Disease Haplotype ◽

Case Control Analysis

SummaryIntronic microsatellites repeats were implicated in the pathogenic mechanisms of several diseases. SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease (AITD), harbours large non-coding introns. Using the tandem repeat finder (TRF) Software, two new polymorphic microsatellite markers, rs59736472 and rs57250751, located at introns 10 and 20, respectively, were identified. A case-control design including 308 patients affected with AITD (146 GD, 90 HT and 72 PIM) and 212 unmatched healthy controls were performed for each marker (rs59736472, D7S2459 and rs57250751). Furthermore, we used PHASE 2.0 version to reconstruct haplotypes, Kolmogorov–Smirnov (KS) and the Clump analysis program for multivariate analysis. The fluorescent genotyping revealed three alleles (106,112 and 115 bp) for rs57250751 and 12 alleles for both D7S2459 and rs59736472 ranging from 134 to 156 bp and from 144 to 168 bp, respectively. The case-control analysis confirmed the positive association of D7S2459 with Hashimoto thyroiditis (HT) disease previously reported. Moreover, a significant association was found only with rs59736472 and HT disease. Haplotype-specific analysis showed that the 140-148-115 haplotype may increase the risk of HT (χ2=9·8, 1 df, P=0·0017, OR=2·07, IC [1·27–3·36]). Consequently, considering the number of repetitions of both D7S2459 and rs59736472, we found 15 alleles ranging from 45 to 59 repetitions. The case-control analysis showed a significant association of the 55 repetition with HT disease (χ2=6·32, 1 df, pc=0·012, OR=1·74, IC [1·1–2·76]). In conclusion, we suggest the association of longer alleles of intron 10 of SLC26A4 gene with HT disease.

Download Full-text

Gallstone disease is linked to the Gilbert-Meulengracht UGT1A1*28 variant: case-control analysis of Swedish twins

Zeitschrift für Gastroenterologie ◽

10.1055/s-0032-1331962 ◽

2013 ◽

Vol 51 (01) ◽

Author(s):

M Krawczyk ◽

HU Marschall ◽

F Grünhage ◽

D Katsika ◽

C Einarsson ◽

...

Keyword(s):

Gallstone Disease ◽

Case Control ◽

Control Analysis ◽

Case Control Analysis

Download Full-text

Faculty Opinions recommendation of Variations in bone mineral density of proximal femora of elderly people with hip fractures: a case-control analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718412091.793495565 ◽

2014 ◽

Author(s):

Anwar Marthya

Keyword(s):

Bone Mineral Density ◽

Elderly People ◽

Bone Mineral ◽

Hip Fractures ◽

Case Control ◽

Control Analysis ◽

Mineral Density ◽

Case Control Analysis

Download Full-text

Faculty Opinions recommendation of Association between circulating levels of sex steroid hormones and Barrett's esophagus in men: a case-control analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718546480.793507896 ◽

2015 ◽

Author(s):

Milli Gupta

Keyword(s):

Steroid Hormones ◽

Barrett’S Esophagus ◽

Barrett's Esophagus ◽

Case Control ◽

Sex Steroid Hormones ◽

Sex Steroid ◽

Control Analysis ◽

Case Control Analysis ◽

Circulating Levels

Download Full-text

Relationships between attention to emotion and anxiety among a community sample of adolescents

Psychological Medicine ◽

10.1017/s0033291720003360 ◽

2021 ◽

pp. 1-12

Author(s):

Benjamin C. Mullin ◽

Jacob B. W. Holzman ◽

Laura Pyle ◽

Emmaly L. Perks ◽

Yaswanth Chintaluru ◽

...

Keyword(s):

Anxiety Disorders ◽

Eye Tracking ◽

Attentional Bias ◽

Community Sample ◽

Full Range ◽

Small Samples ◽

Control Analysis ◽

Attentional Processes ◽

Anxious Youth ◽

Case Control Analysis

Abstract Background Attentional bias to threat has been implicated as a cognitive mechanism in anxiety disorders for youth. Yet, prior studies documenting this bias have largely relied on a method with questionable reliability (i.e. dot-probe task) and small samples, few of which included adolescents. The current study sought to address such limitations by examining relations between anxiety – both clinically diagnosed and dimensionally rated – and attentional bias to threat. Methods The study included a community sample of adolescents and employed eye-tracking methodology intended to capture possible biases across the full range of both automatic (i.e. vigilance bias) and controlled attentional processes (i.e. avoidance bias, maintenance bias). We examined both dimensional anxiety (across the full sample; n = 215) and categorical anxiety in a subset case-control analysis (n = 100) as predictors of biases. Results Findings indicated that participants with an anxiety disorder oriented more slowly to angry faces than matched controls. Results did not suggest a greater likelihood of initial orienting to angry faces among our participants with anxiety disorders or those with higher dimensional ratings of anxiety. Greater anxiety severity was associated with greater dwell time to neutral faces. Conclusions This is the largest study to date examining eye-tracking metrics of attention to threat among healthy and anxious youth. Findings did not support the notion that anxiety is characterized by heightened vigilance or avoidance/maintenance of attention to threat. All effects detected were extremely small. Links between attention to threat and anxiety among adolescents may be subtle and highly dependent on experimental task dimensions.

Download Full-text