• Asian-Australasian Journal of Animal Sciences
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• 제33권9호
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• pp.1400-1410
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• 2020

Objective: Genome-wide association study and two meta-analysis based on GWAS performed to explore the genetic mechanism underlying variation in pig number born alive (NBA) and total number born (TNB). Methods: Single trait GWAS and two meta-analysis (single-trait meta analysis and multi-trait meta analysis) were used in our study for NBA and TNB on 3,121 Yorkshires from 4 populations, including three different American Yorkshire populations (n = 2,247) and one British Yorkshire populations (n = 874). Results: The result of single trait GWAS showed that no significant associated single nucleotide polymorphisms (SNPs) were identified. Using single-trait meta analysis and multi-trait meta analysis within populations, 11 significant loci were identified associated with target traits. Spindlin 1, vascular endothelial growth factor A, forkhead box Q1, msh homeobox 1, and LHFPL tetraspan submily member 3 are five functionally plausible candidate genes for NBA and TNB. Compared to the single population GWAS, single-trait Meta analysis can improve the detection power to identify SNPs by integrating information of multiple populations. The multiple-trait analysis reduced the power to detect trait-specific loci but enhanced the power to identify the common loci across traits. Conclusion: In total, our findings identified novel genes to be validated as candidates for NBA and TNB in pigs. Also, it enabled us to enlarge population size by including multiple populations with different genetic backgrounds and increase the power of GWAS by using meta analysis.

• Asian Pacific Journal of Cancer Prevention
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• 제15권3호
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• pp.1205-1210
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• 2014

Background: Previous studies on the association of oral contraceptives (OC) use and lung cancer generated inconsistent findings. The aim of this study was to confirm any definite correlation between OC use and lung cancer risk. Methods: Publications were reviewed and obtained through PubMed and EMBASE databases literature search up to November, 2013. Reference lists from retrieved articles were also reviewed. The language of publication was restricted to English. A meta-analysis was performed to evaluate the association by calculating pooled odds ratios (ORs) and 95% confidence intervals (CIs). Results: A total of 14 studies consisting of 9 case-control studies and 5 cohort studies were finally included in this meta-analysis. There was no significant association observed between OC use and lung cancer risk in the overall analysis (OR=0.91; 95% CI=0.81-1.03). There was a significant protective effect in Europe (OR=0.74; 95% CI=0.60-0.91) and a borderline significant protective effect with an adenocarcinoma histology (OR=0.90; 95% CI=0.80-1.01) in subgroup analyses. No association was observed for methodological quality of study, study design, smoking status and case number of study. Conclusion: This meta-analysis suggests that OC use is not likely to be associated with the risk of lung cancer at all. While a significant protective effect of OC use on lung cancer was observed in Europe, interpretation should be cautious because of the potential biases of low-quality studies. At the same time, more attention should be paid to the possible association of OC use with adenocarcinoma of lung. Our findings require further research, with well-conducted and large-scale epidemiological studies to confirm effects of OC use on lung cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제15권6호
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• pp.2571-2576
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• 2014

Background: Published studies on the association between the exonuclease 1 (EXO1) Glu589Lys polymorphism and cancer susceptibility have yielded conflicting results. Thus, a meta-analysis of published studies was performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to January 2013 on the association between the EXO1 Glu589Lys polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Either fixed-effect or random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 4,391 cancer cases and 4,339 controls from 10 studies were included. Overall, no significant association between the EXO1 Glu589Lys polymorphism and cancer susceptibility was observed in either genetic model. However; in subgroup analyses by cancer type, a significant association between EXO1 Glu589Lys and lung cancer risk was found (Lys vs Glu: OR=1.23, 95%CI=1.07-1.41, $p_{heterogeneity}$=0.05). Further, subgroup analysis by ethnicity indicated that there was a statistically increased cancer risk in Asians (Lys vs Glu: OR=1.42, 95%CI=1.30-1.55, $p_{heterogeneity}$=0.07; Lys/Lys vs Glu/Glu: OR=1.93, 95%CI=1.20-3.12, $p_{heterogeneity}$=0.01; Lys/Lys+Glu/Lys vs Glu/Glu: OR=1.52, 95%CI=1.37-1.68, $p_{heterogeneity}$=0.42; Lys/Lys vs Glu/Lys+Glu/Glu: OR=1.68, 95%CI=1.07-2.65, $p_{heterogeneity}$=0.02). However, significant association was absent in Caucasians. Conclusions: This meta-analysis suggests, for the first time, that the EXO1 Glu589Lys polymorphism is not associated with overall cancer susceptibility, although marginal associations were found for lung cancer and Asian subgroups. Additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are needed to confirm these findings.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6703-6707
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• 2013

Background: Numerous epidemiological studies have been conducted to evaluate the association between variants of the DNA repair gene XRCC3 and cancer risk. Here we focused on one XRCC3 polymorphism and development of cervical cancer, performing a meta-analysis. Methods: The pooled association between the XRCC3 Thr241Met polymorphism and cervical cancer risk was assessed by odds ratios (ORs) and their 95% confidence intervals (95%CIs). Results: A total of 5 case-control studies met the inclusion criteria. The pooled ORs for the total included studies showed no association among homozygotes TT vs. CC: OR=1.93, 95%CI=0.68-5.49, P=0.22; dominant model TT+TC vs. CC: OR=1.37, 95%CI=0.90-2.06, P=0.14; and recessive model TT vs. TC+CC: OR=1.76, 95%CI=0.68-4.55, P=0.25, but might be a slight risk factor for cervical cancer in heterozygote contrast TT vs. CT: OR= 1.33, 95%CI=1.04-1.71, P=0.02. In subgroup analysis, significant associations were found for Asians under all genetic models. Conclusions: Our meta-analysis suggested the XRCC3 Thr241Met polymorphism might not act as a cervical cancer risk factor overall. However, in subgroup analysis, a significant association was found in Asians under all genetic models. The association should be studied with a larger, stratified population, especially for Asians.

• Asian Pacific Journal of Cancer Prevention
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• 제16권1호
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• pp.339-344
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• 2015

Epidemiologic findings concerning the association between the hsa-mir-499 rs3746444 A>G polymorphism and cancer risk have yielded mixed results. We aimed to investigate the association by performing a meta-analysis of all available studies. We searched PubMed and EMBASE for studies published up to November 2014, using odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of any association. The Benjamini-Hochberg (BH) method was used to correct the p values for multiple comparisons. We included 39 studies, including 14,136 cases and 16,937 controls. The results of overall meta-analysis suggested a borderline association between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility (AG+GG vs. AA: OR=1.15, 95% CI=1.04-1.26, corrected p value=0.04). After removing studies not conforming to Hardy-Weinberg equilibrium (HWE), however, this association disappeared (AG+GG vs AA: OR=1.18, 95% CI=1.03-1.34, corrected p value=0.21). When stratified analysis by ethnicity, cancer type or HWE in controls, although some associations between hsa-mir-499 rs3746444 polymorphism and cancer susceptibility were detected, these associations no longer existed after adjustment using BH method. In conclusion, our meta-analysis suggests that hsa-mir-499 rs3746444 A>G polymorphism is not associated with risk of cancer based on current evidence.

• Asian Pacific Journal of Cancer Prevention
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• 제15권8호
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• pp.3691-3698
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• 2014

Background: Published studies on the association between the Ras Association Domain Family 1 isoform A (RASSF1A) Ala133Ser polymorphism and cancer susceptibility have yielded conflicting results. Thus, a meta-analysis was here performed to assess the possible association. Materials and Methods: All eligible case-control studies published up to November 2013 on the association between RASSF1A Ala133Ser polymorphism and cancer susceptibility were identified by searching PubMed, Web of Science, Science Direct and hand search. Bothfixed-effect and random-effect models were used to calculate pooled odds ratios (ORs) with 95% confidence intervals (CIs) by using the Comprehensive Meta-Analysis software version 2.2. Results: A total of 10 studies including 4,572 cancer cases and 4,320 controls were included in the meta-analysis. Overall, significantly increased cancer risk was associated with the variant Ser133 when all studies were pooled (Ser vs Ala: OR=1.51, 95% CI=1.08-2.12, $P_{heterogeneity}{\leq}0.001$; Ser/Ser+Ala/Ser vs Ala/Ala: OR=1.55, 95% CI=1.08-2.22, $P_{heterogeneity}{\leq}0.001$). Moreover, in subgroup analyses by cancer types, a significant association between RASSF1A Ala133Ser polymorphism and lung cancer risk was found (Ser vs Ala: OR=2.27, 95% CI=1.29-4.02, $P_{heterogeneity}$=0.61; Ser/Ser+Ala/Ser vs Ala/Ala: OR=2.42, 95% CI=1.33-4.42, $P_{heterogeneity}=0.75$). In addition, in subgroup analyses by ethnicity, it was found that the RASSF1A Ala133Ser polymorphism was associated with overall cancer risk in Asians (Ser vs Ala: OR=1.37, 95% CI=1.06-1.77, $P_{heterogeneity}=0.06$) and Caucasians (Ser/Ser+Ala/Ser vs Ala/Ala: OR=2.21, 95% CI=1.01-4.82, $P_{heterogeneity}{\leq}0.001$). Conclusions: This meta-analysis suggests, for the first time, that RASSF1A Ala133Ser polymorphism may contribute to cancer susceptibility, especially for lung cancer. Besides, additional well-designed studies with larger sample size focusing on different ethnicities and cancer types are needed to confirm these findings.

• Korean Circulation Journal
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• 제52권3호
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• pp.220-230
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• 2022

Background and Objectives: Previous observational studies presented a positive association between alcohol and atrial fibrillation (AF). However, previous studies using genetic polymorphisms on the causal relationship between alcohol consumption and AF have reported conflicting results. This study aimed to evaluate the causality between alcohol consumption and AF using the aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphism, which is the genetic variant with the most potent effect on drinking behavior. Methods: A total of 8,964 participants from the Dong-gu Study were included in the present study. The causal association between alcohol consumption and AF was evaluated through a Mendelian randomization (MR) analysis using the ALDH2 rs671 polymorphism as an instrumental variable. Results: No significant relationship between alcohol consumption and AF was found in the observational analysis. However, the genetic analysis using the ALDH2 polymorphism showed a significant association in men. In the MR analysis, genetically predicted daily alcohol consumption was positively related to AF. Conclusions: MR analysis revealed a significant association between the amount of alcohol consumption and AF, which suggests that the association may be causal.

• 응용통계연구
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• 제25권4호
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• pp.563-573
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• 2012

Various methods of analysis have been proposed to understand the gene-disease relation and gene-gene interaction effect for a disease through comparison of genotype in case-control study. In this study, we proposed the method to detect a genetic association and gene-gene interaction through the use of a network graph and centrality measures that are used in social network analysis. The applicability of the proposed method was studied through an analysis of real genetic data.

• 한국컴퓨터정보학회논문지
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• 제12권4호
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• pp.179-189
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• 2007

고객이 제품을 구매할 때에는 항시 구매패턴이 생기기 마련인데, 이러한 구매패턴을 찾아 나가는 과정을 장바구니 분석이라 부른다. 장바구니 분석은 Microsoft Association Algorithm에서는 두 가지 단계로 구성되어 있는데, 첫 번째 단계는 빈발항목집합을 찾아내는 과정이고, 두 번째 단계는 첫 번째 단계에서 찾은 빈발항목집합을 근거로 하여 이들의 중요도를 비교하는 단순한 계산과정이다. 빈발항목집합을 찾아내는 첫 번째 단계는 장바구니 분석에 있어서 핵심부분임에도 불구하고, OLAP 큐브에 적용할 때에는 추적분석이 불가능해지거나 허구의 빈발항목집합이 생성되는 등 여러 문제가 발생하게 된다. 본 연구에서는 장바구니 분석에 있어서 추적분석을 가능하게 하고 실제의 빈발항목집합만을 생성시키는 새로운 OLAP 큐브 구조의 설계법을 제안하고 있다.

• Genomics & Informatics
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• 제2권2호
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• pp.107-109
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• 2004

HapAnalyzer is an analysis system that provides minimum analysis methods for the SNP-based association studies. It consists of Hardy-Weinberg equilibrium (HWE) test, linkage disequilibrium (LD) computation, haplotype reconstruction, and SNP (or haplotype)-phenotype association assessment. It is well suited to a case-control association study for the unrelated population.