Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
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对含有与前列腺癌相关的 MSMB 基因的染色体 10q11.2 的 97 kb 区域进行综合重测序分析。
DOI：
10.1007/s00439-009-0723-9
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发表时间：
2009
期刊：
影响因子：
5.3
通讯作者：
Thomas,Gil
中科院分区：
文献类型：
--
作者：
Yeager,Meredith;Deng,Zuoming;Boland,Joseph;Matthews,Casey;Bacior,Jennifer;Lonsberry,Victor;Hutchinson,Amy;Burdett,LauraA;Qi,Liqun;Jacobs,KevinB;Gonzalez-Bosquet,Jesus;Berndt,SonjaI;Hayes,RichardB;Hoover,RobertN;Thomas,Gil
Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (MSMB) gene. Both the gene product ofMSMB, the prostate secretory protein 94 (PSP94) and its binding protein (PSPBP), have been previously investigated as serum biomarkers for prostate cancer progression. Recent functional work has shown that different alleles of the significantly associated SNP in the promoter ofMSMBfound to be associated with prostate cancer risk, rs10993994, can influence its expression in tumors and in vitro studies. Since it is plausible that additional variants in this region contribute to the risk of prostate cancer, we have used next-generation sequencing technology to resequence a ~97-kb region that includes the area surroundingMSMB(chr10: 51,168,025–51,265,101) in 36 prostate cancer cases, 26 controls of European origin, and 8 unrelated CEPH individuals in order to identify additional variants to investigate in functional studies. We identified 241 novel polymorphisms within this region, including 142 in the 51-kb block of linkage disequilibrium (LD) that contains rs10993994 and the proximal promoter ofMSMB. No sites were observed to be polymorphic within the exons ofMSMB.
