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个体混合估计:德克萨斯州斯塔尔县墨西哥裔美国人中糖尿病和胆囊疾病的疾病关联及个体风险

Individual admixture estimates: disease associations and individual risk of diabetes and gallbladder disease among Mexican-Americans in Starr County, Texas.

作者信息

Hanis C L, Chakraborty R, Ferrell R E, Schull W J

出版信息

Am J Phys Anthropol. 1986 Aug;70(4):433-41. doi: 10.1002/ajpa.1330700404.

Abstract

The ethnic and geographic distributions of several common chronic diseases show distinct patterns that are consistent with the distribution of genes and genetic admixture. For example, diabetes and gallbladder disease occur most frequently among Amerindians, while those genetically admixed with them (such as Mexican-Americans) have intermediate rates, and lowest rates are found among Whites and Blacks. Because there will be heterogeneity from individual to individual in ancestral affinity within an admixed population, a method is developed for estimating each person's admixture probability. Results confirm that there is substantial heterogeneity of individual admixture among Mexican-Americans in Starr County, Texas, with a mean value indicating that 65% of genes in this population are Caucasian derived and 35% Amerindian derived. The individual estimates are shown to be unrelated to the probability of being diabetic and only marginally related to gallbladder disease, with those having the most Amerindian affinity being at increased risk. These results are a consequence of the independent assortment of loci and indicate that unless the markers employed are related (including linkage) to the disease of interest, the method will have limited utility. Individual admixture estimates will be useful, however, for examining aspects of population structure and will find increased utility for predicting disease and examining disease associations as more and more of the genome is represented by markers, a very probable prospect with the abundance of DNA polymorphism being identified by restriction enzymes.

摘要

几种常见慢性病的种族和地理分布呈现出与基因分布及基因混合相一致的独特模式。例如,糖尿病和胆囊疾病在美洲印第安人中最为常见,而与他们有基因混合的人群(如墨西哥裔美国人)发病率居中,白人和黑人中的发病率最低。由于在混合人群中个体的祖先亲缘关系存在异质性,因此开发了一种方法来估计每个人的混合概率。结果证实,在得克萨斯州斯塔尔县的墨西哥裔美国人中,个体混合存在显著异质性,平均值表明该人群中65%的基因源自高加索人,35%源自美洲印第安人。个体估计值显示与患糖尿病的概率无关,与胆囊疾病仅有微弱关联,美洲印第安人亲缘关系最强的个体患病风险增加。这些结果是基因座独立分配的结果,表明除非所使用的标记与所关注的疾病相关(包括连锁关系),否则该方法的效用将有限。然而,个体混合估计对于研究人群结构方面将是有用的,并且随着越来越多的基因组由标记代表,在预测疾病和研究疾病关联方面将有更大的效用,这是一个极有可能实现的前景,因为通过限制酶可以识别大量的DNA多态性。

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