五個研究小組分別發(fā)現(xiàn)，在染色體9p21區(qū)域附近的兩種遺傳變異增加多種癌癥的發(fā)生風險,，如神經(jīng)膠質(zhì)瘤,、基底細胞癌、惡性黑素瘤等,，這些研究成果同時發(fā)表在7月在線出版的《自然·遺傳學》期刊上,。

神經(jīng)膠質(zhì)瘤是一種典型的預后不良的大腦腫瘤。Richard Houlston和Margaret Wrensch等同事合作,，發(fā)現(xiàn)了神經(jīng)膠質(zhì)瘤的新遺傳變異風險點,。包括染色體9p21區(qū)域中基因CDKN2A和CDKN2B附近的遺傳變異在內(nèi)，新研究發(fā)現(xiàn)了5個會增加神經(jīng)膠質(zhì)瘤風險的遺傳變異位點,。

基底細胞癌是一種普通的非黑色素瘤性皮膚癌,。雖然環(huán)境因素如太陽下的曝曬是其主要誘因，但遺傳變異也在這種癌癥的發(fā)生中發(fā)揮了重要作用,。在基因CDKN2A和CDKN2B以及其他染色體附近,，Simon Stacey和同事分別鑒別出一種和兩種新的基底細胞癌風險遺傳變異因子。

Tim Spector和Timothy Bishop等同事合作,，在基因CDKN2A和CDKN2B附近鑒別出一種黑色素瘤風險遺傳位點,。與基底細胞癌類似，反復暴露于太陽下和家族疾病史均增加了黑色素瘤的發(fā)生風險,。這些研究還報告了與黑色素瘤風險增加相關的其他遺傳變異,。（生物谷Bioon.com）

生物谷推薦原始出處：

Nature Genetics 41, 915 - 919 (2009) 5 July 2009 | doi:10.1038/ng.410

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

Mario Falchi1,2,12, Veronique Bataille1,3,12, Nicholas K Hayward4,12, David L Duffy5, Julia A Newton Bishop6, Tomi Pastinen7,8, Alessandra Cervino1, Zhen Z Zhao9, Panos Deloukas10, Nicole Soranzo1,10, David E Elder11, Jennifer H Barrett6, Nicholas G Martin5, D Timothy Bishop6,12, Grant W Montgomery9,12 & Timothy D Spector1,12

A high melanocytic nevi count is the strongest known risk factor for cutaneous melanoma. We conducted a genome-wide association study for nevus count using 297,108 SNPs in 1,524 twins, with validation in an independent cohort of 4,107 individuals. We identified strongly associated variants in MTAP, a gene adjacent to the familial melanoma susceptibility locus CDKN2A on 9p21 (rs4636294, combined P = 3.4  10-15), as well as in PLA2G6 on 22q13.1 (rs2284063, combined P = 3.4  10-8). In addition, variants in these two loci showed association with melanoma risk in 3,131 melanoma cases from two independent studies, including rs10757257 at 9p21, combined P = 3.4  10-8, OR = 1.23 (95% CI = 1.15–1.30) and rs132985 at 22q13.1, combined P = 2.6  10-7, OR = 1.23 (95% CI = 1.15–1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility.

1 Department of Twin Research & Genetic Epidemiology, Kings College London, St. Thomas' Hospital Campus, London, UK.
2 Genomic Medicine, Hammersmith Hospital, Imperial College London, London, UK.
3 Dermatology Department, West Hertfordshire NHS Trust, Hemel Hempstead General Hospital, Herts, UK.
4 Oncogenomics, Queensland Institute of Medical Research, Brisbane, Australia.
5 Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia.
6 Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.
7 Department of Human and Medical Genetics, McGill University, Montréal, Canada.
8 McGill University and Genome Québec Innovation Centre, Montréal, Canada.
9 Molecular Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia.
10 Human Genetics Department, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
11 Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
12 These authors contributed equally to this work.