生物谷報(bào)道：根據(jù)Nature Genetics 7月1日在網(wǎng)上提起發(fā)表的一份報(bào)告，染色體17中的2個(gè)變異影響前列腺癌,，其中的一個(gè)也影響2型糖尿病,。
作者說，17號(hào)染色體的長(zhǎng)臂以前在家族相關(guān)性研究中（被認(rèn)為）與前列腺癌有關(guān),，但是以前沒有報(bào)道易感變異,。Dr. Kari Stefansson和同事分析了17號(hào)染色體q（長(zhǎng)臂）上的6個(gè)SNPs（單核苷酸多態(tài)性），顯示與他們的基因組范圍分析的前列腺癌有一定相關(guān),。2個(gè)SNPs顯示與前列腺癌明顯相關(guān),，rs4430796（什么意思？）的位點(diǎn)A可增加危險(xiǎn)性22％,，rs1859962的位點(diǎn)G可增加危險(xiǎn)性20％,。作者報(bào)告，SNP rs4430796定位在TCF2基因的第二個(gè)內(nèi)含子,，而rs1859962定位在17號(hào)染色體長(zhǎng)臂24.3的少基因區(qū),。
Figure 1 - A schematic view of the genome-wide association results for chromosome 17q.
Shown are results from the genome-wide association analysis performed in the Icelandic study population. The results plotted are for all Illumina Hap300 chip SNPs that are located between position 30 Mb and the telomere ( 78.6 Mb; build 35) on the long arm of chromosome 17 (blue diamonds). The six SNP markers circled in red and listed in Table 2 all fall within the linkage region described in ref. 8.
原文出處：
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Julius Gudmundsson, Patrick Sulem, Valgerdur Steinthorsdottir, Jon T Bergthorsson, Gudmar Thorleifsson, Andrei Manolescu, Thorunn Rafnar, Daniel Gudbjartsson, Bjarni A Agnarsson, Adam Baker, Asgeir Sigurdsson, Kristrun R Benediktsdottir, Margret Jakobsdottir, Thorarinn Blondal, Simon N Stacey, Agnar Helgason, Steinunn Gunnarsdottir, Adalheidur Olafsdottir, Kari T Kristinsson, Birgitta Birgisdottir, Shyamali Ghosh, Steinunn Thorlacius, Dana Magnusdottir, Gerdur Stefansdottir, Kristleifur Kristjansson, Yu Bagger, Robert L Wilensky, Muredach P Reilly, Andrew D Morris, Charlotte H Kimber, Adebowale Adeyemo, Yuanxiu Chen, Jie Zhou, Wing-Yee So, Peter C Y Tong, Maggie C Y Ng, Torben Hansen, Gitte Andersen, Knut Borch-Johnsen, Torben Jorgensen, Alejandro Tres, Fernando Fuertes, Manuel Ruiz-Echarri, Laura Asin, Berta Saez, Erica van Boven, Siem Klaver, Dorine W Swinkels, Katja K Aben, Theresa Graif, John Cashy, Brian K Suarez, Onco van Vierssen Trip, Michael L Frigge, Carole Ober, Marten H Hofker, Cisca Wijmenga, Claus Christiansen, Daniel J Rader, Colin N A Palmer, Charles Rotimi, Juliana C N Chan, Oluf Pedersen, Gunnar Sigurdsson, Rafn Benediktsson, Eirikur Jonsson, Gudmundur V Einarsson, Jose I Mayordomo, William J Catalona, Lambertus A Kiemeney, Rosa B Barkardottir, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong & Kari Stefansson
Published online: 01 July 2007; | doi:10.1038/ng2062
First paragraph | Full Text | PDF (255 KB) | Supplementary information
相關(guān)基因：
TCF2
Official Symbol TCF2 and Name: transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor [Homo sapiens]
Other Aliases: FJHN, HNF1B, HNF1beta, HNF2, LFB3, MODY5, VHNF1
Other Designations: transcription factor 2
Chromosome: 17; Location: 17cen-q21.3
Annotation: Chromosome 17, NC_000017.9 (33120546..33179181, complement)
MIM: 189907
GeneID: 6928
作者簡(jiǎn)介：
KARI STEFANSSON
Kari Stefansson, M.D., Dr. Med., is president and CEO of deCode Genetics in Reykjavik, Iceland. He was previously Professor of Neurology, Pathology (Neuropathology), and Neuroscience at Harvard Medical School, and Chief of the Division o f Neuropathology at Beth Israel Hospital in Boston. Stefansson received both an M.D. and Dr. Med. from the School of Medicine at the University of Iceland. He trained in neurology and neuropathology at the University of Chicago where he joined the faculty in 1983; when he left the University in 1993 to join the faculty at Harvard, he was Professor of Neurology and Pathology (Neuropathology) and a member of the Committees on Immunology and Neurobiology.
deCode Genetics is a genomics company that searches for disease genes in the Icelandic population. Until recently, the understanding of the genetic basis of human disease was fairly limited and was confined to classic genetic diseases such as hemophilia and cystic fibrosis. Although research into genetic disease established the concept that certain DNA sequence variations could have a huge impact on individual health, this principle could not be extended to more mainstream diseases such as cancer or diabetes. With the advent of the DNA sequencing and mapping technologies (sequencing is the establishment of the order of nucleotides along a piece of DNA; mapping assigns an order to large genomic fragments so that they can be efficiently sequenced), scientists are now able to more closely study genetic variations between individuals.
The hunt for disease genes begins by choosing a target disease such as osteoporosis or schizophrenia, whose genetic contribution in unknown. Family groups are then identified in which these disease genes are statistically more prevalent than in the general populations. Blood samples are collected from these individuals and their DNA is analyzed in order to identify regions of the genome that are linked to the disease.
The Icelandic population offers an unparalleled opportunity to study disease genetics for the following reasons:
Genetically homogeneous population
Genealogy of population since 1800 available to deCode, including health records.
Broad representation of genetically based diseases, for example, certain cancers, Multiple Sclerosis and cardiovascular disease.
See Kari Stefansson's answers to Ask the Scientists questions.
