scholarly journals Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

2015 ◽  
Vol 47 (9) ◽  
pp. 987-995 ◽  
Author(s):  
Matthew H Law ◽  
◽  
D Timothy Bishop ◽  
Jeffrey E Lee ◽  
Myriam Brossard ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Meta Analysis ◽  
Cutaneous Malignant Melanoma ◽  
Susceptibility Loci ◽  
Genome Wide

scholarly journals Association between Oral Contraceptives and cutaneous melanoma: a systematic review and metanalysis

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
I Giacchetta ◽  
M Chiavarini ◽  
G Naldini ◽  
R Fabiani
Keyword(s):  
Systematic Review ◽  
Malignant Melanoma ◽  
Publication Bias ◽  
Oral Contraceptives ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Cutaneous Malignant Melanoma ◽  
Hormonal Factors ◽  
Increased Risk

Abstract Background The probability of developing invasive cutaneous malignant melanoma (CMM) is higher in women than in men up until the age of 49. Several studies investigated the association between hormonal factors and CMM. The aim of this systematic review and meta-analysis is to summarize the evidence on the association between Oral Contraceptives (OC) and the risk of CMM. Methods This review and meta-analysis follow the PRISMA guidelines. A systematic literature search was conducted on Medline and Web of Science until December 2019. Studies were eligible if reported a risk estimate for the association between OC and CMM. Heterogeneity testing was performed using Cochran's Q and I2 statistics. Publication bias was assessed by Egger's test and Begg's test. Meta-analysis was performed using random effect model. Results The results of the pooled analysis of all 32 studies showed no significant association between OC and the risk of CMM (OR 1.02; 95% CI 0.94-1.11; I2=39.32%, p = 0.013). The stratified analyses by study design found no significant association between OC and the risk of CMM neither in the 18 case-control studies (OR 1.02; 95% CI 0.87-1.21; I2=56.91%, p = 0.002) nor in the 14 cohort studies (OR 1.04; 95% CI 0.98-1.11; I2=0.00%, p = 0.557). No significant publication bias could be detected by Egger's test or Begg's test. Conclusions This meta-analysis of available literature suggests no significant association between OC and the risk of developing CMM. Further investigations are needed to evaluate the possible relationship of OC use and other hormonal factors potentially contributing to the increased risk of CMM in women during their reproductive years. Key messages Oral contraceptives (OC) do not significantly contribute to the risk of Cutaneous Malignant Melanoma (CMM). Further studies are needed to investigate the potential role of other hormonal factors in the increased probability of developing CMM in women during their reproductive years.

scholarly journals Association of XPC Polymorphisms with Cutaneous Malignant Melanoma Risk: Evidence from a Meta-Analysis

2020 ◽  
Vol 63 (3) ◽  
pp. 101-112
Author(s):  
Fatemeh Asadian ◽  
Seyed Mohammadreza Niktabar ◽  
Yaser Ghelmani ◽  
Shadi Kargar ◽  
Elahe Akbarian ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Meta Analysis ◽  
Complementation Group ◽  
Cutaneous Malignant Melanoma ◽  
Case Control Studies ◽  
Melanoma Risk ◽  
Pooled Data ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Rflp Assay

Background: A number of studies have reported that the xeroderma pigmentosum complementation group C (XPC) polymorphisms are associated with cutaneous malignant melanoma (CMM) susceptibility. But the results of those studies were inconsistent. Here, we performed a study to obtain a more conclusive result on the association of XPC polymorphisms with risk of CMM. Methods: The XPC Lys939Gln and Ala499Val polymorphisms were genotyped in 150 CMM cases and 150 controls by PCR-RFLP assay. Subsequently, all published relevant studies were identified through a comprehensive literature search in PubMed, Web of Science, and CNKI databases. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of correlation. Results: There was no significant association between XPC Lys939Gln and Ala499Val polymorphisms and CMM risk in our population. A total of 15 case-control studies including ten studies with 5,990 cases and 7,697 controls on XPC Lys939Gln and five studies with 3,139 cases and 3,721 controls on XPC Ala499Val polymorphism were selected. Pooled data revealed that XPC Lys939Gln (C vs. A: OR = 1.108, 95% CI 1.008– 1.217; P = 0.033) and Ala499Val (C vs. A: OR = 0.918, 95% CI 0.850–0.992; p = 0.031; CC+CA vs. AA: OR = 0.904, 95% CI 0.819–0.997; p = 0.043) polymorphisms were significantly associated with an increased risk of CMM. Moreover, stratified analyses by ethnicity revealed that the XPC Ala499Val and Lys939Gln polymorphisms were significantly associated with risk of CMM in Caucasians and mixed populations, respectively. Conclusions: This meta-analysis result suggested that XPC Lys939Gln and Ala499Val polymorphisms were significantly associated with risk of CMM.

scholarly journals Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

2013 ◽  
Vol 144 (4) ◽  
pp. 799-807.e24 ◽  
Author(s):  
Ulrike Peters ◽  
Shuo Jiao ◽  
Fredrick R. Schumacher ◽  
Carolyn M. Hutter ◽  
Aaron K. Aragaki ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Meta Analysis ◽  
Susceptibility Loci ◽  
Colorectal Tumors ◽  
Genome Wide ◽  
A Genome

scholarly journals Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Alison P. Klein ◽  
Brian M. Wolpin ◽  
Harvey A. Risch ◽  
Rachael Z. Stolzenberg-Solomon ◽  
Evelina Mocci ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Meta Analysis ◽  
Susceptibility Loci ◽  
Genome Wide

scholarly journals Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus

2020 ◽  
pp. annrheumdis-2020-219209
Author(s):  
Xianyong Yin ◽  
Kwangwoo Kim ◽  
Hiroyuki Suetsugu ◽  
So-Young Bang ◽  
Leilei Wen ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Large Scale ◽  
Meta Analysis ◽  
Genetic Correlations ◽  
Susceptibility Loci ◽  
Systemic Lupus ◽  
East Asians ◽  
Genome Wide ◽  
Causal Variants

ObjectiveSystemic lupus erythematosus (SLE), an autoimmune disorder, has been associated with nearly 100 susceptibility loci. Nevertheless, these loci only partially explain SLE heritability and their putative causal variants are rarely prioritised, which make challenging to elucidate disease biology. To detect new SLE loci and causal variants, we performed the largest genome-wide meta-analysis for SLE in East Asian populations.MethodsWe newly genotyped 10 029 SLE cases and 180 167 controls and subsequently meta-analysed them jointly with 3348 SLE cases and 14 826 controls from published studies in East Asians. We further applied a Bayesian statistical approach to localise the putative causal variants for SLE associations.ResultsWe identified 113 genetic regions including 46 novel loci at genome-wide significance (p<5×10−8). Conditional analysis detected 233 association signals within these loci, which suggest widespread allelic heterogeneity. We detected genome-wide associations at six new missense variants. Bayesian statistical fine-mapping analysis prioritised the putative causal variants to a small set of variants (95% credible set size ≤10) for 28 association signals. We identified 110 putative causal variants with posterior probabilities ≥0.1 for 57 SLE loci, among which we prioritised 10 most likely putative causal variants (posterior probability ≥0.8). Linkage disequilibrium score regression detected genetic correlations for SLE with albumin/globulin ratio (rg=−0.242) and non-albumin protein (rg=0.238).ConclusionThis study reiterates the power of large-scale genome-wide meta-analysis for novel genetic discovery. These findings shed light on genetic and biological understandings of SLE.

scholarly journals Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

2018 ◽  
Vol 27 (22) ◽  
pp. 3986-3998 ◽  
Author(s):  
Anas M Khanshour ◽  
Ikuyo Kou ◽  
Yanhui Fan ◽  
Elisabet Einarsdottir ◽  
Nadja Makki ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Meta Analysis ◽  
Susceptibility Loci ◽  
Replication Studies ◽  
Genome Wide
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