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Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition 下载免费PDF全文
Maider Ibarrola‐Villava Rajiv Kumar Eduardo Nagore Meriem Benfodda Mickael Guedj Steven Gazal Hui‐Han Hu Jian Guan P. Sivaramakishna Rachkonda Vincent Descamps Nicole Basset‐Seguin Armand Bensussan Martine Bagot Philippe Saiag Dirk Schadendorf Manuel Martin‐Gonzalez Matias Mayor Bernard Grandchamp Gloria Ribas Soufir Nadem 《International journal of cancer. Journal international du cancer》2015,136(9):2109-2119
Multifactorial predisposition to melanoma includes genes involved in pigmentation, immunity and DNA repair. Nonetheless, missing heritability in melanoma is still important. We studied the role of 335 candidate SNPs in melanoma susceptibility by using a dedicated chip and investigating 110 genes involved in different pathways. A discovery set was comprised of 1069 melanoma patients and 925 controls from France. Data were replicated using validation phases II (1085 cases and 801 controls from Spain) and III (1808 cases and 1894 controls from Germany and a second set of Spanish samples). In addition, an exome sequencing study was performed in three high‐risk French melanoma families. Nineteen SNPs in 17 genes were initially associated with melanoma in the French population. Six SNPs were replicated in phase II, including two new SNPs in the WNT3 (rs199524) and VPS41 (rs11773094) genes. The role of VPS41 and WNT3 was confirmed in a meta‐analysis (3940 melanoma cases and 3620 controls) with two‐side p values of 0.002, (OR = 0.86) and 4.07 × 10?10 (OR = 0.80), respectively. Exome sequencing revealed a non‐synonymous VPS41 variant in one family that was shown to be strongly associated with familial melanoma (OR = 4.46, p = 0.001) in an independent sample of 178 melanoma families. WNT3 belongs to WNT pathway known to play a crucial role in melanoma, whereas VPS41 regulates vesicular trafficking and is thought to play a role in pigmentation. Our work identified two new pathways involved in melanoma predisposition. These results may be useful in the future for identifying individuals highly predisposed to melanoma. 相似文献
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ObjectivesNon-communicable diseases have increased in Tunisia after the epidemiological transition. That is why the national strategy to prevent and control obesity was elaborated and implemented. Improving the quality of foods is one axis of this strategy. The purpose of this paper was to estimate and evaluate the nutritional profiles of Tunisian foods sold by fast food restaurants, and explore ways for improvement.Material and methodsNutritional quality of 35 average recipes or items was assessed by 70 recipes of dishes sold by fast food restaurants. The SAIN,LIM French scoring system was used. Foods were classified into the four SAIN,LIM classes, i.e. from the healthiest (class 1) to the least healthy (class 4). The recipes were then reformulated and improved by deleting or reducing some unfavorable ingredients like salt.ResultsBefore reformulation, the items were spread over the 4 SAIN,LIM classes (class 1: 42.9%; class 2: 8.6%; class 3: 20.0% and class 4: 28.6%). After reformulation, the items were spread over class 1 (85.7%) and class 3 (14.3%), showing clear improvement of their nutritional quality.ConclusionIn Tunisia, an important percentage of foods sold by fast food restaurant have a good nutrient profile (43%). After reformulation, most items were in the healthiest class. This study is the first to show that it is possible to improve the nutritional quality of foods sold by fast food restaurants, and that the SAIN,LIM system can help to that end. 相似文献
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