五个研究小组分别发现，在染色体9p21区域附近的两种遗传变异增加多种癌症的发生风险，如神经胶质瘤、基底细胞癌、恶性黑素瘤等，这些研究成果同时发表在7月在线出版的《自然·遗传学》期刊上。
神经胶质瘤是一种典型的预后不良的大脑肿瘤。Richard Houlston和Margaret Wrensch等同事合作，发现了神经胶质瘤的新遗传变异风险点。包括染色体9p21区域中基因CDKN2A和CDKN2B附近的遗传变异在内，新研究发现了5个会增加神经胶质瘤风险的遗传变异位点。
基底细胞癌是一种普通的非黑色素瘤性皮肤癌。虽然环境因素如太阳下的曝晒是其主要诱因，但遗传变异也在这种癌症的发生中发挥了重要作用。在基因CDKN2A和CDKN2B以及其他染色体附近，Simon Stacey和同事分别鉴别出一种和两种新的基底细胞癌风险遗传变异因子。
Tim Spector和Timothy Bishop等同事合作，在基因CDKN2A和CDKN2B附近鉴别出一种黑色素瘤风险遗传位点。与基底细胞癌类似，反复暴露于太阳下和家族疾病史均增加了黑色素瘤的发生风险。这些研究还报告了与黑色素瘤风险增加相关的其他遗传变异。（生物谷Bioon.com）
生物谷推荐原始出处：
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.
