当前位置： SCI文献检索 > MOLECULAR BIOLOGY AND EVOLUTION期刊下所有文献 > 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Abstract：

:Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local variability motivated the whole-exome sequencing of 267 unrelated individuals, representative of the healthy Spanish population. Like in other studies, a considerable number of rare variants were found (almost one-third of the described variants). There were also relevant differences in allelic frequencies in polymorphic variants, including ∼10,000 polymorphisms private to the Spanish population. The allelic frequencies of variants conferring susceptibility to complex diseases (including cancer, schizophrenia, Alzheimer disease, type 2 diabetes, and other pathologies) were overall similar to those of other populations. However, the trend is the opposite for variants linked to Mendelian and rare diseases (including several retinal degenerative dystrophies and cardiomyopathies) that show marked frequency differences between populations. Interestingly, a correspondence between differences in allelic frequencies and disease prevalence was found, highlighting the relevance of frequency differences in disease risk. These differences are also observed in variants that disrupt known drug binding sites, suggesting an important role for local variability in population-specific drug resistances or adverse effects. We have made the Spanish population variant server web page that contains population frequency information for the complete list of 170,888 variant positions we found publicly available (http://spv.babelomics.org/), We show that it if fundamental to determine population-specific variant frequencies to distinguish real disease associations from population-specific polymorphisms.

journal_name

Mol Biol Evol

journal_title

Molecular biology and evolution

authors

Dopazo J,Amadoz A,Bleda M,Garcia-Alonso L,Alemán A,García-García F,Rodriguez JA,Daub JT,Muntané G,Rueda A,Vela-Boza A,López-Domingo FJ,Florido JP,Arce P,Ruiz-Ferrer M,Méndez-Vidal C,Arnold TE,Spleiss O,Alvarez-Tejado

doi

10.1093/molbev/msw005

subject

Has Abstract

pub_date

2016-05-01 00:00:00

pages

1205-18

issue

eissn

0737-4038

issn

1537-1719

pii

msw005

journal_volume

pub_type

杂志文章

在线工具

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.