• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1857-1863
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• 2015

Background: Alpha-methylacyl-CoA racemase(AMACR) is thought to play key roles in diagnosis and prognosis of prostate cancer. However, studies of associations between AMACR gene polymorphisms and prostate cancer risk reported inconsistent results. Therefore, we conducted the present meta-analysis to clarify the link between AMACR gene polymorphisms and prostate cancer risk. Materials and Methods: A literature search was performed in PubMed, Embase, China National Knowledge Infrastructure (CNKI), Wanfang and Weipu databases. Odds ratios (ORs) and 95% confidence intervals (95%CIs) were calculated to assess the strength of any association between AMACR polymorphisms and prostate cancer risk. Subgroup analyses by ethnicity, source of controls, quality control and sample size were also conducted. Results: Five studies covering 3,313 cases and 3,676 controls on five polymorphisms (D175G, M9V, S201L, K277E and Q239H) were included in this meta-analysis. Significant associations were detected between prostate cancer and D175G (dominant model: OR=0.89, 95%CI=0.80-0.99, P=0.04) and M9V (dominant model: OR=0.87, 95%CI=0.78-0.97, P=0.01) polymorphisms as well as that in subgroup analyses. We also observed significant decreased prostate cancer risk in the dominant model (OR=0.90, 95%CI=0.81-0.99, P=0.04) for the S201L polymorphism. However, K277E and Q239H polymorphisms did not appear to be related to prostate cancer risk. Conclusions: The current meta-analysis indicated that D175G and M9V polymorphisms of the AMACR gene are related to prostate cancer. The S201L polymorphism might also be linked with prostate cancer risk to some extent. However, no association was observed between K277E or Q239H polymorphisms and susceptibility to prostate cancer.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.9
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• pp.4477-4479
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• 2012

Background: The high incidence and relatively good prognosis of breast cancer has made it the most prevalent cancer in the world today. A large number of distinct mutations and polymorphisms in the p53 gene have been reported worldwide, but there is no report regarding the role of this inherited susceptibility gene in breast cancer risk among the Bengalee Hindu Caste females of West Bengal, India. Aim of the Study: We investigated the distribution and the nature of p53 gene mutations and polymorphisms in exons 5-7 in a cohort of 110 Bengalee Hindu breast cancer patients and 127 age, sex and caste matched controls by direct sequencing. Results: We did not observe any mutations and polymorphisms in our studied individuals. Conclusion: We therefore conclude that mutations in exons 5-7 of p53 gene are rare causes of breast cancer among Bengalee Hindu caste females, and therefore of little help for genetic counseling and diagnostic purposes.

• BMB Reports
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• v.43 no.7
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• pp.499-505
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• 2010

The present study aimed to investigate whether the polymorphisms in the TSLPR gene are associated with atopic and asthmatic disease in the Korean population. We identified eleven single nucleotide polymorphisms (SNPs) and two variation sites in the TSLPR gene, including the promoter region. The genotype and allele frequencies of g.33G>C of the TSLPR gene in asthma patients were significantly different from the respective frequencies of the control group (P = 0.006 and 0.003, respectively). Our additional analysis showed that the genotype and allele frequencies of the g.33G>C and g.19646A>G of the TSLPR gene were significantly associated in the atopic asthma patients rather than in the non-atopic asthma patients (genotype frequencies; P = 0.0001 and 0.0003 respectively, allele frequencies; P = 0.0005 and 0.0001 in that order). Our results suggest that the SNPs of the TSLPR gene could be associated with the susceptibility to atopic asthma in the Korean population.

• Journal of Environmental Health Sciences
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• v.36 no.1
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• pp.1-13
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• 2010

Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.15
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• pp.6211-6217
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• 2014

Previous genome-wide association studies (GWAS) have implicated several single nucleotide polymorphisms (SNPs) in the AT-rich interactive domain 5B (ARID5B) gene with childhood acute lymphoblastic leukemia (ALL). However, replicated studies reported some inconsistent results in different populations. Using meta-analysis, we here aimed to clarify the nature of the genetic risks contributed by the two polymorphisms (rs10994982, rs7089424) for developing childhood ALL. Through searches of PubMed, EMBASE, and manually searching relevant references, a total of 14 articles with 16 independent studies were included. Odds ratios (ORs) with 95% confidence intervals (95%CI) were calculated to assess the associations. Both SNPs rs10994982 and rs7089424 showed significant associations with childhood ALL risk in all genetic models after Bonferroni correction. Furthermore, subtype analyses of B-lineage ALL provided strong evidence that SNP rs10994982 is highly associated with the risk of developing B-hyperdiploid ALL. These results indicate that SNPs rs10994982 and rs7089424 are indeed significantly associated with increased risk of childhood ALL.

• Animal Bioscience
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• v.36 no.6
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• pp.840-850
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• 2023

Objective: This study aimed to investigate the polymorphisms of the dopa decarboxylase (DDC) gene and association analysis with lamb quality and expression quantification of the DDC gene in phenotypically divergent Indonesian sheep. Methods: The totals of 189 rams with an average body weight of 24.12 kg at 10 to 12 months were used to identify DDC gene polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Among 189 rams, several rams representing various sheep genotypes were used for an association study between genotypes and phenotypic traits with proc general linear model (GLM) analysis. In addition, the gene expression analysis of the DDC mRNA in the phenotypically divergent sheep population was analyzed using quantitative reverse-transcription PCR. Results: The DDC gene (g. 5377439 G>A) showed polymorphisms that indicated three genotypes: AA, AG, and GG. The DDC gene polymorphism was significantly associated (p≤0.05) with carcass characteristics including carcass percentage, carcass length, hot and cold carcass; physical properties of lamb quality including pH value; retail cut carcass; fatty acid composition such as fat content, pentadecanoic acid (C15:0), tricosylic acid (C23:0), lignoceric acid (C24:0), oleic acid (C18:1n9c), elaidic acid (C18:1n9t), nervonic acid (C24:1), linoleic acid (C18:2n6c), arachidonic acid (C20:4n6), cervonic acid (C22:6n3); and mineral content including potassium (K). The GG genotype of the DDC gene had the best association with lamb quality traits. The DDC gene expression analysis mRNA showed no significant difference (p≥0.05) between lamb quality traits. Conclusion: The DDC gene could be used as a potential candidate gene to improve lamb quality.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.6
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• pp.3955-3961
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• 2013

Background: Defects of manganese superoxide dismutase (MnSOD) have long been implicated in generation of oxidative stress and risk susceptibility to various cancers. Two functional polymorphisms within the MnSOD gene, including the Val-9Ala of the mitochondrial targeting sequence (MTS) and the Ile58Thr of the exon-3, have been proposed to reduce its enzyme activity and antioxidant potential. Materials and Methods: A high-throughput multiplex SNaPshot$^{(R)}$ system was developed herein for simultaneous analyses of Val-9Ala and Ile58Thr in a single reaction. Genomic DNA extracted from each whole blood sample of 248 patients including 107 with cervical cancer and 141 with breast cancer and from 136 healthy women as controls was analyzed by the multiplex SNaPshot$^{(R)}$ system. Results: The Val/Val, Val/Ala genotypes and the Val allele of the MTS were predominant in patients with cervical or breast cancer as well as healthy women in Thailand. The Ile/Ile genotype and the Ile allele of the exon-3 were found in all of them whereas none of the Ile/Thr, the Thr/Thr genotypes and the Thr allele was detected. Genotypic association of both Val-9Ala and Ile58Thr polymorphisms with cervical cancer and breast cancer of these patients comparing to healthy women was not statistically significant (p<0.05). Conclusions: The Val/Val, Val/Ala genotypes and the Val allele of the MTS were found predominantly but the Ile/Ile genotype and the Ile allele of the exon-3 were detected in patients with cervical cancer, breast cancer and healthy women in Thailand. These two functional polymorphisms (Val-9Ala and Ile58Thr) in MnSOD gene did not associate with susceptibility risk of these cancer patients in Thailand.

• Asian-Australasian Journal of Animal Sciences
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• v.20 no.6
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• pp.821-826
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• 2007

The aim of the experiment was to detect polymorphisms in the keratin-associated protein 8.2 (KAP8.2) gene to determine associations between the genotype and fibre traits in Chinese Inner Mongolia cashmere goats. The fibre traits data investigated were cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length. Five hundred and forty-two animals were used to detect polymorphisms in the complete coding sequence of the hircine KAP8.2 gene by means of PCR-SSCP. The results identified six genotypes, AA, BB, DD, AB, AD and BD, coded for by three different alleles A, B and D. Two SNPs in the coding region were confirmed by sequencing, which were A214G and T218C respectively. The relationships between the genotypes and cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length were analyzed. There were significant differences (p<0.01) between the associations of the different genotypes with cashmere fibre diameter, cashmere weight and hair length. Cashmere length was the only trait that was not associated with the genotypes. The genotype AA (0.73) was found to be predominant in Inner Mongolia cashmere goats and the animals with this genotype had the thinnest cashmere fibre diameter compared with the other genotypes. These results suggested that polymorphisms in the hircine KAP8.2 gene may be a potential molecular marker for cashmere fibre diameter in cashmere goats.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.10
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• pp.1341-1347
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• 2011

The objective of this study was to investigate polymorphisms of keratin-associated protein 8.1 (KAP8.1) gene and its effect on fibre traits of Chinese Inner Mongolian Cashmere goats. The fibre traits data investigated were cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length. Five hundred and forty animals were used to detect polymorphisms in the complete coding sequence of the hircine KAP8.1 gene by means of PCR-SSCP. The results identified six genotypes, AA, BB, CC, AB, AC and BC, coded for by three different alleles A, B and C. Two SNPs in the coding region were confirmed by sequencing, which were T113G and G116C respectively. The relationships between the genotypes and cashmere fibre diameter, combed cashmere weight, cashmere fibre length and guard hair length were analyzed. There were significant differences between the associations of the different genotypes with cashmere weight (p<0.01), cashmere length (p<0.05) and hair length (p<0.01). Cashmere fibre diameter was the only trait that was not associated with the genotypes. The animals of genotype AB and BB had the higher cashmere weight compared with the genotype AA. By further analysis, it appeared that the KAP8.1 genotype effects on fibre traits may be due to a mutation at the 113 locus. These results suggested that polymorphisms in the hircine KAP8.1 gene might be a potential molecular marker for cashmere weight in Cashmere goats.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.2
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• pp.815-821
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• 2016

Background: Development of chronic myeloid leukemia (CML) involves formation of double strand breaks (DSBs) which are initially sensed by the ataxia telangiectasia mutated (ATM) signal kinase to induce a DNA damage response (DDR). Mutations or single nucleotide polymorphisms in ATM gene are known to influence the signaling capacity resulting in susceptibility to certain genetic diseases such as cancers. Materials and Methods: In the present study, we have analyzed -5144A>T (rs228589) and C4138T (rs3092856) polymorphisms of theATM gene through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 925 subjects (476 CML cases and 449 controls). Results: The A allele of -5144A>T polymorphism and T allele of C4138T polymorphism which were known to be influencing ATM signaling capacity are significantly associated with enhanced risk for CML independently and also in combination (evident from the haplotype and diplotype analyses). Significant elevation in the frequencies of both the risk alleles among high risk groups under European Treatment and Outcome Study (EUTOS) score suggests the possible role of these polymorphisms in predicting the prognosis of CML patients. Conclusions: This study provides the first evidence of association of functional ATM gene polymorphisms with the increased risk of CML development as well as progression.