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A case-only genome-wide association ...

Singh, Sandeep Kumar.

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A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia.

Record Type:	Electronic resources : Monograph/item
Title/Author:	A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia./
Author:	Singh, Sandeep Kumar.
Description:	274 p.
Notes:	Source: Dissertation Abstracts International, Volume: 77-01(E), Section: B.
Contained By:	Dissertation Abstracts International77-01B(E).
Subject:	Environmental health. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3721564
ISBN:	9781339031910

A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia.
Singh, Sandeep Kumar.

A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia. - 274 p.

Source: Dissertation Abstracts International, Volume: 77-01(E), Section: B.

Thesis (Ph.D.)--Florida International University, 2015.

Males and age group 1 to 5 years show a much higher risk for childhood acute lymphoblastic leukemia (ALL). We performed a case-only genome-wide association study (GWAS), using the Illumina Infinium HumanCoreExome Chip, to unmask gender- and age-specific risk variants in 240 non-Hispanic white children with ALL recruited at Texas Children's Cancer Center, Houston, Texas. Besides statistically most significant results, we also considered results that yielded the highest effect sizes. Existing experimental data and bioinformatic predictions were used to complement results, and to examine the biological significance of statistical results.

ISBN: 9781339031910Subjects--Topical Terms:

543032
Environmental health.

A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia.
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100 1 $a Singh, Sandeep Kumar. $3 3193087
245 1 2 $a A case-only genome-wide association study of gender- and age-specific risk markers for childhood leukemia.
300 $a 274 p.
500 $a Source: Dissertation Abstracts International, Volume: 77-01(E), Section: B.
500 $a Advisers: Stanislaw F. Wnuk; Mehmet T. Dorak.
502 $a Thesis (Ph.D.)--Florida International University, 2015.
520 $a Males and age group 1 to 5 years show a much higher risk for childhood acute lymphoblastic leukemia (ALL). We performed a case-only genome-wide association study (GWAS), using the Illumina Infinium HumanCoreExome Chip, to unmask gender- and age-specific risk variants in 240 non-Hispanic white children with ALL recruited at Texas Children's Cancer Center, Houston, Texas. Besides statistically most significant results, we also considered results that yielded the highest effect sizes. Existing experimental data and bioinformatic predictions were used to complement results, and to examine the biological significance of statistical results.
520 $a Our study identified novel risk variants for childhood ALL. The SNP, rs4813720 (RASSF2), showed the statistically most significant gender-specific associations (P < 2 x 10-6). Likewise, rs10505918 (SOX5) yielded the lowest P value (P < 1 x 10-5 ) for age-specific associations, and also showed the statistically most significant association with age-at-onset (P < 1 x 10-4). Two SNPs, rs12722042 and 12722039, from the HLA-DQA1 region yielded the highest effect sizes (odds ratio (OR) = 15.7; P = 0.002) for gender-specific results, and the SNP, rs17109582 (OR = 12.5; P = 0.006), showed the highest effect size for age-specific results. Sex chromosome variants did not appear to be involved in gender-specific associations.
520 $a The HLA-DQA1 SNPs belong to DQA1*01:07and confirmed previously reported male-specific association with DQA1*01:07. Twenty one of the SNPs identified as risk markers for gender- or age-specific associations were located in the transcription factor binding sites and 56 SNPs were non-synonymous variants, likely to alter protein function. Although bioinformatic analysis did not implicate a particular mechanism for gender- and age-specific associations, RASSF2 has an estrogen receptor-alpha binding site in its promoter. The unknown mechanisms may be due to lack of interest in gender- and age-specificity in associations. These results provide a foundation for further studies to examine the gender- and age-differential in childhood ALL risk. Following replication and mechanistic studies, risk factors for one gender or age group may have a potential to be used as biomarkers for targeted intervention for prevention and maybe also for treatment.
590 $a School code: 1023.
650 4 $a Environmental health. $3 543032
650 4 $a Public health. $3 534748
650 4 $a Gender studies. $3 2122708
650 4 $a Genetics. $3 530508
650 4 $a Bioinformatics. $3 553671
690 $a 0470
690 $a 0573
690 $a 0733
690 $a 0369
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710 2 $a Florida International University. $b Public Health. $3 3193088
773 0 $t Dissertation Abstracts International $g 77-01B(E).
790 $a 1023
791 $a Ph.D.
792 $a 2015
793 $a English
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3721564