[Fine mapping of complex disease susceptibility loci].
Genome-wide association studies (GWAS) using single nucleotide polymorphism (SNP) markers have identified more than 3800 susceptibility loci for more than 660 diseases or traits. However, the most significantly associated variants or causative variants in these loci and their biological functions have remained to be clarified. These causative variants can help to elucidate the pathogenesis and discover new biomarkers of complex diseases. One of the main goals in the post-GWAS era is to identify the causative variants and susceptibility genes, and clarify their functional aspects by fine mapping. For common variants, imputation or re-sequencing based strategies were implemented to increase the number of analyzed variants and help to identify the most significantly associated variants. In addition, functional element, expression quantitative trait locus (eQTL) and haplotype analyses were performed to identify functional common variants and susceptibility genes. For rare variants, fine mapping was carried out by re-sequencing, rare haplotype analysis, family-based analysis, burden test, etc.This review summarizes the strategies and problems for fine mapping.
Interventional Radiology Department of Affiliated Tumor Hospital of Guangxi Medical University, Nanning 530021, China; State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing 102206, China; National Engineering Research Center for Protein Drugs, Beijing 102206, China; National Center for Protein Sciences in Beijing, Beijing 102206, China.
Qingfeng
Q
Song
National Engineering Research Center for Protein Drugs, Beijing 102206, China; National Center for Protein Sciences in Beijing, Beijing 102206, China.
Hongxing
H
Zhang
Interventional Radiology Department of Affiliated Tumor Hospital of Guangxi Medical University, Nanning 530021, China.
Yilong
Y
Ma
National Engineering Research Center for Protein Drugs, Beijing 102206, China; National Center for Protein Sciences in Beijing, Beijing 102206, China.
Gangqiao
G
Zhou
D002874:Chromosome Mapping / Q000379:methods*; D004194:Disease / Q000235:genetics*; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide