Mutation Screening and Association Study of the Folylpolyglutamate Synthetase (FPGS) Gene with Susceptibility to Childhood Acute Lymphoblastic Leukemia

Piwkham, Duangjai; Siriboonpiputtana, Teerapong; Beuten, Joke; Pakakasama, Samart; Gelfond, Jonathan; Paisooksantivatana, Karan; Tomlinson, Gail E.; Rerkamnuaychoke, Budsaba

doi:10.7314/apjcp.2015.16.11.4727

Cited by 6 publications

(6 citation statements)

References 29 publications

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“…To remove cellular debris and erythrocytes, 2 mL of the cell suspension was overlaid on 2 mL of 30% Percoll and centrifuged at 600 x g for 10 minutes at 4°C. Following Percoll centrifugation, SSCs were enriched using magnetic activated cell sorting (MACS) and cultured for 6 weeks, as previously described [26]. Briefly, after Percoll separation, testis cells were resuspended and labeled for MACS using anti-Thy-1 microbeads (Miltenyi Biotech) [27].…”

Section: Methodsmentioning

confidence: 99%

Effect of Antioxidants and Apoptosis Inhibitors on Cryopreservation of Murine Germ Cells Enriched for Spermatogonial Stem Cells

Kim

Lee

et al. 2016

PLoS ONE

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Spermatogonial stem cells (SSCs) are germline stem cells that serve as the foundation of spermatogenesis to maintain fertility throughout a male’s lifetime. To treat male infertility using stem cell banking systems and transplantation, it is important to be able to preserve SSCs for long periods of time. Therefore, this study was conducted to develop an optimal cryopreservation protocol for SSCs using antioxidants and apoptosis inhibitors in freezing medium. No differences were observed compared to controls when SSCs were cryopreserved in the presence of apoptosis inhibitors by themselves. However, mouse germ cells cryopreserved in basal medium containing the antioxidant hypotaurine (14 mM) resulted in significantly greater proliferation potential and mitochondrial activity. Furthermore, treatment groups with combinations containing 200 mM trehalose and 14 mM hypotaurine showed higher proliferation rates compared to controls. In addition, several serum free conditions were evaluated for SSC cryopreservation. Treatment media containing 10% or 20% knockout serum replacement resulted in similar cryopreservation results compared to media containing FBS. SSC transplantation was also performed to confirm the functionality of SSCs frozen in 14 mM hypotaurine. Donor SSCs formed normal spermatogenic colonies and sperm in the recipient testis. These data indicate that inclusion of 14 mM hypotaurine in cryopreservation media is an effective way to efficiently cryopreserve germ cells enriched for SSCs and that knockout serum replacement can replace FBS in germ cell cryopreservation media.

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Section: Methodsmentioning

confidence: 99%

Effect of Antioxidants and Apoptosis Inhibitors on Cryopreservation of Murine Germ Cells Enriched for Spermatogonial Stem Cells

Kim

Lee

et al. 2016

PLoS ONE

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“…Allele frequencies of FPGS and GGH variants in our healthy volunteers were compared with those of five superpopulations found in the 1000 Genomes Project phase 3-data and with other studies. Both FPGS rs10106'G' and rs1544105'A' alleles in the SI population (37%) were significantly lower when compared to AFR, AMR, EAS, PJL, and Thai populations, [20] but were similar to EUR and subpopulations of SAS (except PJL) [Table 4]. [21][22][23][24][25][26][27][28][29] The frequency of the FPGS rs10106'G' allele in the SI population was also lower when compared to Puerto Rican, [21] Dutch, [22] and Singapore Chinese populations, [29] whereas rs1544105'A' allele frequency was lower when compared to a Chinese population (65.9%).…”

Section: Comparison Of Frequency Of Studied Variants In South Indian Population With Data From the 1000 Genomes Project And Other Studiesmentioning

confidence: 84%

“…Our study results are similar to Huang et al, [32] but contradictory to the report by Piwkham et al where 'AG' genotypes of FPGS rs1544105 and rs10106 were found to be associated with the risk of ALL in the Thai population. [20] Table 5: Comparison of haplotype frequencies of folylpolyglutamate synthase and gamma-glutamyl hydrolase variants in South Indian population with the superpopulations of 1000 Genomes Project phase-3…”

Section: Discussionmentioning

confidence: 99%

Interethnic Differences in Single and Haplotype Structures of Folylpolyglutamate Synthase and Gamma-glutamyl Hydrolase Variants and Their Influence on Disease Susceptibility to Acute Lymphoblastic Leukemia in the Indian Population: An Exploratory Study

Kodidela

Pradhan

Dubashi

et al. 2018

Indian Journal of Medical and Paediatric Oncology

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Aim: We aim to establish the genotype and haplotype frequencies of folylpolyglutamate synthase ( FPGS rs10106 and rs1544105) and gamma-glutamyl hydrolase ( GGH rs3758149 and rs11545078) variants in the South Indian population (SI) and to study the association of these variants with susceptibility to acute lymphoblastic leukemia (ALL). We also aim to compare the genotype and haplotype frequencies of studied variants with those of superpopulations from the 1000 Genomes Project collected in phase-3 and other published studies in the literature. Materials and Methods: A total of 220 unrelated healthy volunteers and 151 patients with ALL of both sexes were recruited for the study. Extracted DNA was subjected to genotyping by allelic discrimination using quantitative real-time-polymerase chain reaction. Genotype details of the studied variants in other ethnicities were obtained from 1000 genomes project Phase 3 data. Haploview software was used to construct haplotypes. Results: : In our study, the frequencies of FPGS rs1006'G' and rs1544105'A' alleles were found to be 37% and 37.2%, respectively, and the frequencies of GGH rs3758149'T' and GGH rs11545078'T' alleles were found to be 29.8% and 16.7%, respectively. Among the studied variants, FPGS rs1544105'AA' genotype carriers were found to be susceptible to the risk of ALL (odds ratio: 2.16; 95% confidence interval [CI]: 1.15–4.07; P = 0.02). Haplotype structures of FPGS and GGH variants in SI population were significantly different from other ethnicities ( P < 0.05), except the South Asian superpopulation. Conclusion: FPGS rs1544105'AA' genotype was found to influence the risk for ALL. Intra and interethnic differences exist in the distribution of studied variants. Therefore, the impact of each variant on the susceptibility and outcome of diseases may differ between populations.

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“…Mutation screening is always performed by PCR-SSCP. At present, this technique has been used for detecting the known mutation hot-spots, screening of unknown mutations and analyzing of the gene mutation and cancer suppressing gene (20). The present study assessed 63 specimens of Chinese human colon cancer tissue via PCR-SSCP.…”

Section: Discussionmentioning

confidence: 99%

Mutation of the nm23-H1 gene has a non-dominant role in colorectal adenocarcinoma

Jin

Dai

2016

Molecular and Clinical Oncology

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Abstract. Nm23-H1 is a metastasis suppressor gene, which is has a reduced expression in patients with digestive system cancer. However, the mechanistic basis for the genetic instability remains unknown. To study the expression of the nm23-H1 gene in patients with colorectal cancer, polymerase chain reaction-single strand conformation polymorphism was used to analyze any point mutation, and immunohistochemistry was used to detect the expression of nm23-H1. Results revealed that all 63 specimens of Chinese human colorectal cancer tissues exhibit no point mutation. Among those 63 specimens, 19 (30%) exhibited positive immunostaining for the nm23-H1 protein and 44 (70%) exhibited negative immunostaining. These observations suggested that the protein and gene expression levels of nm23-H1 are reduced in colorectal cancer compared with the adjacent normal tissues, and the point mutation in the nm23-H1 gene is not the dominant cause of metastatic colorectal cancer.

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Mutation Screening and Association Study of the Folylpolyglutamate Synthetase (FPGS) Gene with Susceptibility to Childhood Acute Lymphoblastic Leukemia

Cited by 6 publications

References 29 publications

Effect of Antioxidants and Apoptosis Inhibitors on Cryopreservation of Murine Germ Cells Enriched for Spermatogonial Stem Cells

Effect of Antioxidants and Apoptosis Inhibitors on Cryopreservation of Murine Germ Cells Enriched for Spermatogonial Stem Cells

Interethnic Differences in Single and Haplotype Structures of Folylpolyglutamate Synthase and Gamma-glutamyl Hydrolase Variants and Their Influence on Disease Susceptibility to Acute Lymphoblastic Leukemia in the Indian Population: An Exploratory Study

Mutation of the nm23-H1 gene has a non-dominant role in colorectal adenocarcinoma

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