Reporting, Appraising, and Integrating Data on Genotype Prevalence and Gene-Disease Associations

Little, Julian; Bradley, Linda; Bray, Molly S.; Clyne, Mindy; Dorman, Janice S.; Ellsworth, Darrell L.; Hanson, James W.; Khoury, Muin J.; Lau, Joseph; O’Brien, Thomas R.; Rothman, Nat; Stroup, Donna F.; Taioli, Emanuela; Thomas, Duncan C.; Vainio, Harri; Wacholder, Sholom; Weinberg, Clarice R.

doi:10.1093/oxfordjournals.aje.a000179

Cited by 334 publications

(250 citation statements)

References 80 publications

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“…Assessment of Hardy-Weinberg proportion is regarded as an important criterion for evaluating genetic association studies; caution should be exercised when interpreting the studies included in the meta-analysis (Little et al, 2002). Most of the studies included in this meta-analysis reported genotype frequencies in their control groups that were consistent with Hardy-Weinberg proportions (P > 0.05).…”

Section: Characteristics and Qualitative Assessment Of Included Studimentioning

confidence: 99%

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

Chen²,

Hu³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Section: Characteristics and Qualitative Assessment Of Included Studimentioning

confidence: 99%

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

Chen²,

Hu³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…Additional investigations are underway (see http://www.med.unc.edu/~pfsulliv/ downloads.htm). We have attempted to follow published guidelines for association studies (33,37,45,46).…”

Section: Project Contextmentioning

confidence: 99%

Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia

Campbell

Ebert

Skelly

et al. 2008

Biological Psychiatry

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Background-Genetic association studies, including a large meta-analysis, report association of Regulator of G Protein Signaling 4 (RGS4) with schizophrenia in the context of heterogeneity. The central role of RGS4 in regulating signaling via Gi/o coupled neurotransmitter receptors led us to hypothesize that there may be RGS4 genotypes predictive of specific disease phenotypes and antipsychotic treatment responses.

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“…The study was structured considering the checklist for the reporting and appraising of gene-disease associations proposed by Little et al (12).…”

Section: Subjectsmentioning

confidence: 99%

Is there an association between T102C polymorphism of the serotonin receptor 2A gene and urinary incontinence?

Schwanke

Bittencourt

Noronha

et al. 2007

Braz J Med Biol Res

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The regulation of bladder function is influenced by central serotonergic modulation. Several genetic polymorphisms related to serotonin control have been described in the literature. T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with certain diseases such as non-fatal acute myocardial infarction, essential hypertension, and alcoholism. In the present study, we examined the association between 5-HT2A gene polymorphism and urinary incontinence in the elderly. A case-control study was performed in 298 elderly community dwellers enrolled in the Gravataí-GENESIS Project, Brazil, which studies gene-environmental interactions in aging and age-related diseases. Clinical, physical, biochemical, and molecular analyses were performed on volunteers. 5-HT2A genotyping was determined by PCR-RFLP techniques using the HpaII restriction enzyme. The subjects had a mean age of 68.05 ± 6.35 years (60-100 years), with 16.9% males and 83.1% females. The C allele frequency was 0.494 and the T allele frequency was 0.506. The CC genotype frequency was 21.78%, the CT genotype frequency was 55.24% and the TT genotype frequency was 22.98%. We found an independent significant association between the TT genotype (35.7%) and urinary incontinence (OR = 2.06, 95%CI = 1.16-3.65). Additionally, urinary incontinence was associated with functional dependence and systolic hypertension. The results suggest a possible genetic influence on urinary incontinence involving the serotonergic pathway. Further investigations including urodynamic evaluation will be performed to better explain our findings.

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Reporting, Appraising, and Integrating Data on Genotype Prevalence and Gene-Disease Associations

Cited by 334 publications

References 80 publications

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

Estrogen Receptor Alpha Gene Polymorphisms and Breast Cancer Risk: a Case-control Study with Meta-analysis Combined

Ethnic Stratification of the Association of RGS4 Variants with Antipsychotic Treatment Response in Schizophrenia

Is there an association between T102C polymorphism of the serotonin receptor 2A gene and urinary incontinence?

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