• Title/Summary/Keyword: Genome-wide Association Studies (GWAS)

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Evaluation of calving interval and selection indices in Korean native cows

  • Choi, Inchul;Lee, Dooho;Lee, Jong-Gwan;Lee, Seung-Hwan;Ryoo, Seung-Heui
    • Korean Journal of Agricultural Science
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    • v.47 no.3
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    • pp.667-672
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    • 2020
  • It is well known that intensive selection caused a decline in reproductive performance in dairy cattle. Interestingly, the reproductive performances including fertility and calving interval of Korean native beef cattle have declined in the last 20 years, suggesting that a breeding program focusing on carcass weight and intramuscular fat may affect the reproductive physiology in Korean native beef cattle, too. In this study, we analyzed the calving interval (CI) and selection index (SI) based on genome-wide association studies (GWAS) of Hanwoo cows for seven years (2013 - 2019). Multiparous cows (4.5 ± 0.11) were analyzed, which were bred by artificial insemination (AI). We first examined the distribution of the AIs and calving dates. About 40% of the AIs were carried out in May to June and October to December; subsequently, calving was observed from March to April and August to October, respectively, indicating the cows were seasonally bred. No correlation between CI and SI was found (y = 0.0459x - 17.64; R2 = 0.0356), but the ratio of cows with a positive SI was higher in the longer CI group compared to the shorter group, suggesting that the selection for meat quality and quantity may affect the reproductive performances. In addition, the average value of SI was - 3.42 in the CI < 400 while + 5.79 in the CI > 400 although the values were not statistically significant. However, our results suggest that reproductive indices such as fertility and CI should be considered for sustainability in the Hanwoo breeding selection program.

Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs

  • Guan, Yan-Ping;Yang, Xue-Xi;Yao, Guang-Yu;Qiu, Fei;Chen, Jun;Chen, Lu-Jia;Ye, Chang-Sheng;Li, Ming
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.1
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    • pp.85-91
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    • 2014
  • Background: Genome-wide association studies (GWAS) have identified various genetic susceptibility loci for breast cancer based mainly on European-ancestry populations. Differing linkage disequilibrium patterns exist between European and Asian populations. Methods: Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratification analyses were carried out based on the estrogen receptor (ER) and progesterone receptor (PR) status. Results: Among the 10 SNPs, rs10941679 showed significant association with breast cancer when differences between the case and control groups in this Han Chinese population were compared (30.09% GG, 45.4% GA and 23.7% AA; P = 0.012). Four SNPs (rs311499, rs1045485, rs12964873 and rs8170) showed no polymorphisms in our study. The remaining five SNPs showed no association with breast cancer in the present population. Immunohistochemical tests showed that rs2075555 was associated with ER status; the AA genotype showed greater association with ER negative than ER positive (OR = 0.54, 95% CI, 0.29-0.99; P = 0.046). AA of rs7166081 was also associated with ER status, but showed a greater association with ER positive than negative (OR = 1.59, 95% CI = 1.04-2.44; P = 0.031). However, no significant associations were found among the SNPs and PR status. Conclusion: In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. Therefore, confirmation studies are necessary before utilization of these loci in Chinese.

Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer

  • Damavand, Behzad;Derakhshani, Shaghayegh;Saeedi, Nastaran;Mohebbi, Seyed Reza;Milanizadeh, Saman;Azimzadeh, Pedram;Aghdaie, Hamid Asadzadeh;Zali, Mohammad Reza
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.1
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    • pp.41-44
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    • 2015
  • Based on genome-wide association studies (GWAS) a linkage between several variants such as single nucleotide polymorphisms (SNPs) in intron 3 of SMAD7 (mothers against decapentaplegic homolog7) were, rs12953717, rs4464148 and rs4939827 has been noted for susceptibility to colorectal cancer (CRC). In this study we investigated the relationship of rs12953717 and rs4464148 with risk of CRC among 487 Iranian individuals based on a case-control study. Genotyping of SNPs was performed by PCR-RFLP and for confirming the outcomes, 10% of genotyping cases were sequenced with RFLP. Comparing the case and control group, we have found significant association between the rs4464148 SNP and lower risk of CRC. The AG genotype showed decreased risk with and odds ratio of 0.635 (adjusted OR=0.635, 95% CI: 0.417-0.967, p=0.034). There was no significant difference in the distribution of SMAD7 gene rs12953717 TT genotype between two groups of the population evaluated (adjusted OR=1.604, 95% CI: 0.978-2.633, p=0.061). On the other hand, rs12953717 T allele showed a statistically significant association with CRC risk (adjusted OR=1.339, 95% CI: 1.017-1.764, p=0.037). In conclusion, we found a significant association between CRC risk and the rs4464148 AG genotype. Furthermore, the rs12953717 T allele may act as a risk factor. This association may be caused by alternative splicing of pre mRNA. Although we observed a strong association with rs4464148 GG genotype in affected women, we did not detect the same association in CRC male patients.

Common Genetic Variants of PSCA, MUC1 and PLCE1 Genes are not Associated with Colorectal Cancer

  • Kupcinskas, Juozas;Gyvyte, Ugne;Bruzaite, Indre;Leja, Marcis;Kupcinskaite-Noreikiene, Rita;Pauzas, Henrikas;Tamelis, Algimantas;Jonaitis, Laimas;Skieceviciene, Jurgita;Kiudelis, Gediminas
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.14
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    • pp.6027-6032
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    • 2015
  • Background: Polymorphisms of genes encoding PSCA, PLCE1 and MUC1 have been associated with the risk of different cancers in genome wide association studies (GWAS). Up to date there are limited data on the role of these genetic alterations in colorectal cancer (CRC) development. The aim of this study was to evaluate potential associations between single nucleotide polymorphisms (SNPs) of genes encoding PSCA, PLCE1 and MUC1 and the presence of CRC in European populations. Materials and Methods: Gene polymorphisms were analyzed in 574 European subjects (controls: n=382; CRC: n=192). PSCA C>T (rs2294008), PSCA G>A (rs2976392), MUC1 A>G (rs4072037) and PLCE1 A>G (rs2274223) SNPs were genotyped by RT-PCR. Results: The distribution of genotypes for all four SNPs was in line with the Hardy-Weinberg equilibrium (rs2294008, P=0.153; rs2976392, P=0.269; rs4072037, P=0.609; rs2274223, P=0.858). The distribution of genotypes and alleles of PSCA C>T, PSCA G>A, MUC1 A>G and PLCE1 A>G SNPs was similar among controls and CRC patient groups (P>0.05). GG genotype of MUC1 SNP was more frequent in CRC patients (24.0%) than in controls (20.2%); however, this association failed to reach significance (OR-1.45, P=0.15). Overall, in the present study SNPs of PSCA (rs2294008, rs2976392), MUC1 (rs4072037) and PLCE1 (rs2274223) genes were not associated with the presence of CRC. Conclusions: Gene polymorphisms of PSCA, PLCE1 and MUC1 genes are not associated with the presence of CRC in European subjects.

rs10505474 and rs7837328 at 8q24 Cumulatively Confer Risk of Prostate Cancer in Northern Han Chinese

  • Zhang, Lin-Lin;Sun, Liang;Zhu, Xiao-Quan;Xu, Yong;Yang, Kuo;Yang, Fan;Yang, Yi-Ge;Chen, Guo-Qiang;Fu, Ji-Cheng;Zheng, Chen-Guang;Li, Ying;Mu, Xiao-Qiu;Shi, Xiao-Hong;Zhao, Fan;Wang, Fei;Yang, Ze;Wang, Bin-You
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.7
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    • pp.3129-3132
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    • 2014
  • Aims: Genome-wide association studies (GWAS) have identified several risk variants for prostate cancer (pCa) mainly in Europeans, which need to be further verified in other racial groups. We selected six previously identified variants as candidates and to define the association with PCa in Northern Han Chinese. Methods: 749 subjects from Beijing and Tianjin in Northern China were included. Six variants (rs10505474, rs7837328, rs4242384, rs7813, rs486907 and rs1058205) were genotyped by high resolution melting (HRM) assays. The individual and cumulative contribution for of the risk of PCa and clinical covariates were analyzed. Results: Among the six candidate variants, onlyrs10505474, and rs7837328, both locating at 8q24 region, were associated with PCa in our population.rs10505474 (A) was associated with PCa ($OR_{recessive}=1.56$, p=0.006); and rs7837328 (A) was associated with PCa ($OR_{dominant}=1.38$, p=0.042/$OR_{recessive}=1.99$, p=0.003). Moreover, we observed a cumulative effects between them ($p_{trend}=2.58{\times}10^{-5}$). The joint population attributable risk showed the two variants might account for 71.85% of PCa risk. In addition, we found the homozygotes of rs10505474 (A) and rs7837328 (A) were associated with PCa clinical covariants (age at onset, tumor stage, respectively) ($p_{age}=0.046$, $P_{tumorstage}=0.048$). Conclusion: rs10505474 (A) and rs7387328 (A) at 8q24 are associated with PCa and cumulatively confer risk, suggesting the two variations could determine susceptibility to PCa in the Northern Chinese Han population.