PMC:4156421 / 14800-15693 JSONTXT

{"project":"2_test","denotations":[{"id":"25192356-23583980-90446763","span":{"begin":579,"end":581},"obj":"23583980"},{"id":"25192356-23583980-90446764","span":{"begin":805,"end":807},"obj":"23583980"},{"id":"25192356-24429156-90446765","span":{"begin":889,"end":891},"obj":"24429156"}],"text":"We next cross-referenced the patient's genome with SNPs previously implicated in IPF by GWAS (Table S1). The patient was heterozygous for six variants influencing susceptibility to IPF (Table 2). Two of the six are associated with elevated risk for IPF. One of these variants (Figure 2), rs35705950, is located within the promoter region of MUC5B and has a strong association with both familial and sporadic IPF, with odds ratio (OR) estimates ranging from 2.4–6.8 for heterozygote carriers. The presence of one other variant located on chromosome 7 also increases risk for IPF [13]. Four of the six variants are associated with reduced susceptibility to IPF and include SNPs in OBFC1, a gene involved in telomere maintenance, MAPT, the gene from which the microtubule-associated protein tau is produced [13], as well as the Toll interacting protein, TOLLIP, and signal peptidase, SPPL2C [10]."}