rs8067378 is the strongest associating SNP from a region of chromosome 17q21 found in a large (ultimately over 7,000 patients in 3 populations) genome-wide association study of childhood asthma.[PMID 17611496]
Since the associated SNPs were also strongly associated (p < 10-22) in cis with transcript levels of from the ORMDL3 gene, the authors concluded that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma.[PMID 17611496]
[PMID 22370936] Genetic variants on 17q21 are associated with asthma in a Han Chinese population
[PMID 19264973] Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.
[PMID 19426955] Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.
[PMID 19714205] Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children.
[PMID 19732864] Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.
[PMID 20698975] Asthma-susceptibility variants identified using probands in case-control and family-based analyses.
||A genome-wide association study identifies two new cervical cancer susceptibility loci at 4q12 and 17q12.
[PMID 28120299] Analysis of rs8067378 Polymorphism in the Risk of Uterine Cervical Cancer from a Polish Population and its Impact on Gasdermin B Expression.
[PMID 23817570] Cervical cancer risk, GWAS Han Chinese population:
identified strong evidence of associations between cervical cancer and two new loci：
4q12 (rs13117307， Pcombined， stringently matched = 9.69 × 10E-09， per-allele odds ratio (OR) stringently matched = 1.26) and 17q12 (rs8067378， Pcombined， stringently matched = 2.00 × 10E-08， per-allele OR stringently matched = 1.18).