一项大规模国际研究显示，某些出生时体重较轻的人成年后易患糖尿病是基因作用使然，研究人员已确认了与此有关的两个基因。
新一期英国《自然遗传学》杂志刊登报告说，英国、法国、德国等多个国家的研究人员综合分析了来自多项研究的3.8万名欧洲人的基因和健康数据。结果发现，出生时体重较轻的人成年后易患Ⅱ型糖尿病。过去，有关专家一直从母亲怀孕时胎儿营养状况的角度来解释这一现象，这次研究则确认了这一现象背后也有基因的作用。
报告说，名为ADCY5和CCNL1的两个基因与出生体重和糖尿病都有关系。这两个基因有不同的变种，那些携带致病基因变种的人，与携带普通基因变种的人相比，患Ⅱ型糖尿病的风险要高出25％，与此同时前者出生时的体重也会平均比后者轻113克。
参与研究的英国爱丁堡大学詹姆斯·威尔逊博士说，确认这两个基因，是解开出生体重与成年后患病关系之谜的第一步。不仅是糖尿病，对于心脏病、高血压等疾病来说，这项研究都有助于探索其背后的生理原因。
(生物谷Bioon.com)
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生物谷推荐原文出处：
Nature Genetics doi:10.1038/ng.567
Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight
Rachel M Freathy1,60, Dennis O Mook-Kanamori2,3,4,60, Ulla Sovio5,60, Inga Prokopenko6,7,60, Nicholas J Timpson8,60, Diane J Berry9,60, Nicole M Warrington10,60, Elisabeth Widen11, Jouke Jan Hottenga12, Marika Kaakinen13,14, Leslie A Lange15, Jonathan P Bradfield16, Marjan Kerkhof17, Julie A Marsh10, Reedik M?gi6,7, Chih-Mei Chen18,19, Helen N Lyon20,21, Mirna Kirin22, Linda S Adair23, Yurii S Aulchenko3, Amanda J Bennett6, Judith B Borja24, Nabila Bouatia-Naji25,26, Pimphen Charoen5,27, Lachlan J M Coin5, Diana L Cousminer11, Eco J C de Geus12, Panos Deloukas28, Paul Elliott5, David M Evans8, Philippe Froguel25,29, The Genetic Investigation of ANthropometric Traits (GIANT) Consortium58, Beate Glaser8,30, Christopher J Groves6, Anna-Liisa Hartikainen31, Neelam Hassanali6, Joel N Hirschhorn20,32,33,34, Albert Hofman3, Jeff M P Holly35, Elina Hypp?nen9, Stavroula Kanoni36, Bridget A Knight37, Jaana Laitinen38, Cecilia M Lindgren6,7, The Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)58, Wendy L McArdle39, Paul F O'Reilly5, Craig E Pennell40, Dirkje S Postma41, Anneli Pouta42, Adaikalavan Ramasamy5,43, Nigel W Rayner6,7, Susan M Ring39, Fernando Rivadeneira3,44, Beverley M Shields37, David P Strachan45, Ida Surakka11, Anja Taanila13, Carla Tiesler18,19, Andre G Uitterlinden3,44, Cornelia M van Duijn3, The Wellcome Trust Case Control Consortium (WTCCC)58, Alet H Wijga46, Gonneke Willemsen12, Haitao Zhang16, Jianhua Zhao47, James F Wilson22, Eric A P Steegers48, Andrew T Hattersley37, Johan G Eriksson49,50,51,52, Leena Peltonen11,28,53,59, Karen L Mohlke15, Struan F A Grant16,47,54, Hakon Hakonarson16,47,54, Gerard H Koppelman55, George V Dedoussis36, Joachim Heinrich18, Matthew W Gillman56, Lyle J Palmer10, Timothy M Frayling1, Dorret I Boomsma12,61, George Davey Smith8,61, Chris Power9,61, Vincent W V Jaddoe2,3,61, Marjo-Riitta Jarvelin5,13,14,42,61 & Mark I McCarthy6,7,57,61 for the Early Growth Genetics (EGG) Consortium
To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 × 10(-35)) and rs9883204 in ADCY5 (P = 7 × 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes1, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes2, 3 has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight–lowering alleles were, on average, 113 g (95% CI 89–137 g) lighter at birth than the 24% with zero or one alleles (Ptrend = 7 × 10(-30)). The impact on birth weight is similar to that of a mother smoking 4–5 cigarettes per day in the third trimester of pregnancy4
