Genetic insights into common pathways and complex relationships among immune-mediated diseases

被引：420

作者：

Parkes, Miles ^{[1
]}

Cortes, Adrian ^{[2
]}

van Heel, David A. ^{[3
]}

Brown, Matthew A. ^{[2
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Med, Inflammatory Bowel Dis Res Grp, Cambridge CB2 0QQ, England

[2] Univ Queensland, Diamantina Inst, Translat Res Inst, Princess Alexandra Hosp, Brisbane, Qld 4102, Australia

[3] Queen Mary Univ London, Barts & London Sch Med, Blizard Inst, London E1 2AT, England

来源：

NATURE REVIEWS GENETICS | 2013年 / 14卷 / 09期

基金：

英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; INFLAMMATORY-BOWEL-DISEASE; PSORIASIS SUSCEPTIBILITY LOCI; TYROSINE-PHOSPHATASE PTPN22; CROHNS-DISEASE; ANKYLOSING-SPONDYLITIS; RHEUMATOID-ARTHRITIS; MISSING HERITABILITY; FUNCTIONAL VARIANT; SEQUENCE VARIANTS;

D O I：

10.1038/nrg3502

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Shared aetiopathogenic factors among immune-mediated diseases have long been suggested by their co-familiality and co-occurrence, and molecular support has been provided by analysis of human leukocyte antigen (HLA) haplotypes and genome-wide association studies. The interrelationships can now be better appreciated following the genotyping of large immune disease sample sets on a shared SNP array: the 'Immunochip'. Here, we systematically analyse loci shared among major immune-mediated diseases. This reveals that several diseases share multiple susceptibility loci, but there are many nuances. The most associated variant at a given locus frequently differs and, even when shared, the same allele often has opposite associations. Interestingly, risk alleles conferring the largest effect sizes are usually disease-specific. These factors help to explain why early evidence of extensive 'sharing' is not always reflected in epidemiological overlap.

引用

页码：661 / 673

页数：13

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