| 1 | TP53 codon 72 Arg/Arg polymorphism is associated with a higher risk for inflammatory bowel disease development显示文摘AIM: To investigate the association between tumor protein 53(TP53) codon 72 polymorphisms and the risk for inflammatory bowel disease(IBD) development.METHODS: Numerous genetic and epigenetic drivers have been identified for IBD including the TP53 gene. Pathogenic mutations in TP53 gene have only been reported in 50% of colorectal cancer(CRC) patients. A single nucleotide polymorphism(SNP) in the TP53 gene resulting in the presence of either arginine(Arg)or proline(Pro) or both at codon 72 was shown to alter TP53 tumor-suppressor properties. This SNP has been investigated as a risk factor for numerous cancers,including CRC. In this study we analyzed TP53 codon 72 polymorphism distribution in 461 IBD,181 primary sclerosing cholangitis patients and 62 healthy controls. Genotyping of TP53 was performed by sequencing and restriction fragment length polymorphism analysis of genomic DNA extracted from peripheral blood. RESULTS: The most frequent TP53 genotype in IBD patients was Arg/Arg occurring in 54%-64% of cases(and in only 32% of controls). Arg/Pro was the most prevalent genotype in controls(53%) and less common in patients(31%-40%). Pro/Pro frequency was not significantly different between controls and IBD patients. CONCLUSION: The data suggests that the TP53 codon 72 Arg/Arg genotype is associated with increased risk for IBD development. | Natalia Volodko Mohamed Salla Bertus Eksteen Richard N Fedorak Hien Q Huynh Shairaz Baksh | 2015 | World Journal of Gastroenterology2015，21，36： | 9 |
| 2 | Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis显示文摘阴囊的 microlithiasis (TM ) 是阴囊的 dysgenesis 症候群(TDS ) 的症状之一。TM 作为阴囊的细菌房间肿瘤(TGCT ) 的一个增进知识的标记特别地有趣。工具包 ligand 基因( KITLG ), BCL2 对手/杀手 1 ( BAK1 ),并且表明对手 4 的 sprouty RTK ( SPRY4 ),基因与 TGCT 的高风险被联系骨头形态基因的蛋白质 7 基因( BMP7 ),转变生长因素贝它受体 3 基因( TGFBR3 ),并且 homeobox D 簇基因( HOXD )与 TDS 有关。使用的聚合酶链反应限制碎片长度多型性( PCR-RFLP )分析,我们为 KITLG 调查了等位基因和遗传型频率( rs995030 , rs1508595 ), SPRY4 ( rs4624820 , rs6897876 ), BAK1 ( rs210138 ), BMP7 ( rs388286 ), TGFBR3 ( rs12082710 ),并且在 142 个 TGCT 病人, 137 个 TM 病人,和 153 个肥沃的人(控制组)的 HOXD ( rs17198432 )。我们在 TM 在 KITLG GG_rs995030 遗传型发现了重要差别(P = 0.01 ) 并且 TGCT 病人(P = 0.0005 ) 与控制相比。我们也揭示了在 KITLG_rs1508595 和 TM 之间的强壮的协会(G 等位基因, P = 0.003;GG 遗传型, P = 0.01 ) 并且在 KITLG_rs1508595 和 TGCT 之间(G 等位基因, P = 0.0001;GG 遗传型, P = 0.0007 ) 。而且,在在 TGCT 组和控制之间的 BMP7_rs388286 有重要差别(T 等位基因, P = 0.00004;TT 遗传型, P = 0.00006 ) 并且在 TM 组和控制之间(T 等位基因, P = 0.04 ) 。HOXD 也与 TGCT 表明了一个强壮的协会(rs17198432 A 等位基因, P = 0.0001;AA 遗传型, P = 0.001 ) 。而且,重要差别在 BAK1_rs210138 G 等位基因在 TGCT 组和控制之间被发现(P = 0.03 ) 并且 GG 遗传型(P = 0.01 ) 。KITLG 和 BMP7 基因,与 TGCT 的发展联系了,可能也与 TM 有关。在摘要, KITLG GG_rs995030, GG_rs1508595, BMP7 TT_rs388286, HOXD AA_rs17198432,和 BAK1 GG_rs210138,遗传型与 TGCT 开发的高风险被联系。 | Ilya S Dantsev Evgeniy V Ivkin Aleksey A Tryakin Dmitriy N Godlevski Oleg Yu Latyshev Victoriya V Rudenko Dmitry S Mikhaylenko Vyacheslav B Chernykh Elena A Volodko Aleksey B Okulov Oleg B Loran Marina V Nemtsova | 2018 | Asian Journal of Andrology2018，20，6： | 4 |
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