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Whole exome sequencing identified multiple rare, likely damaging HSPA1L variants in several families of northern Finnish origin affected by recurrent spontaneous preterm births, and this gene was associated with the glucocorticoid receptor signaling pathway.
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HSP70-HOM gene polymorphism associated with susceptibility to noise-induced hearing loss.
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This is the first study to show that HSPA1L mediated HIF-1alpha stabilization. In addition, this is the first study to show that GP78 inactivation promotes cancer cell proliferation, migration and eventual tumor growth both in vivo and in vitro by increasing cellular prion protein.
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In a cohort of youth at risk for bipolar disorder, pathway analysis showed an enrichment of the glucocorticoid receptor (GR) pathway with the genes MED1, HSPA1L, GTF2A1 and TAF15, which might underlie the previously reported role of stress response in the risk for bipolar disorder in vulnerable populations.
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The rs2763979 locus of the HSP70 genes may be associated with susceptibility to noise-induced hearing loss (NIHL) in Chinese individuals, and other HSP70 genes may also be susceptibility genes for NIHL, but the results must be further replicated in additional independent sample sets.
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A heterozygous de novo mutation (c.830C > T; p.Ser277Leu) in HSPA1L in ulcerative colitis patient. Five additional rare HSPA1L mutations (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) were found in six other patients. All six rare HSPA1L variant proteins showed decreased chaperone activity in vitro. Moreover, three variants demonstrated dominant negative effects on HSPA1L and HSPA1A protein activity.
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Polymorphism of HSPA1L gene is associated with the development of esophageal Carcinoma.
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may be a predictive biomarker for chronic graft-versus-host disease following allogeneic stem cell transplantation
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HSPA1L (rs2227956) is associated with a decreased risk of idiopathic pulmonary fibrosis in a Mexican population.
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Infertility in males with normal sperm parameters was not significantly associated with HSPA1L:c.1478C>T gene polymorphism.
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HSP70-hom polymorphisms modify the association of diethylhexyl phthalates exposure with insulin resistance.
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The potential implication of HSPA1A +190G/C, HSPA1B +1267A/G, and HSPA1L +2437T/C polymorphisms in the susceptibility to paranoid schizophrenia in a homogenous Caucasian Polish population, was analyzed.
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In HSPA1L T2437C polymorphisms, there was no significant differences in frequencies of the variant homozygous in patients compared to controls.
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findings show polymorphisms of HSP70 genes are associated with the development of gastric cancer and duodenal ulcers in a population at high risk for gastric cancer in Costa Rica
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The risk for the development of chronic hepatitis and hepatocellular carcinoma compared to healthy controls irrespective of the aetiology was significant in terms of the HSPA1B marker than HSPA1L in the Indian population.
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studied the relationship between blood levels of HSP70 and HSP90 and genotypes of HSP70, GSTT1, and GSTM1 polymorphic variants in individuals chronically exposed to mercury
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These results suggest that HSP70 gene polymorphisms (HSPA1A, B, and L) influence susceptibility to development of sudden sensorineural hearing loss in the Taiwanese population.
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Results are likely to indicate a primary association between HSPA1B gene polymorphisms with childhood acute lymphoblastic leukemia.
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Heat shock protein 70 genotypes HSPA1B and HSPA1L influence cytokine concentrations, clinical outcome after severe injury
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HSP70-hom gene polymorphism may have a role in graft-versus-host disease after hematopoietic stem cell transplantation
