A polymorphism at –1607 2G in the matrix metalloproteinase‐1 (MMP‐1) increased risk of sudden deafness in korean population but not at –519A/G in MMP‐1

Abstract

These results suggest that the 2G/2G genotype is associated with an increased risk of SD compared with the G/2G and G/G genotypes. Furthermore, the 2G allele may be a risk factor for SD.

GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness

“…Until recently, four main causes of it were proposed [2]: cochlear circulatory disturbances; viral infection of the cochlea (labyrinthitis); rupture of the cochlear membrane; and autoimmune mechanisms. A genetic susceptibility to cochlear circulatory disturbances, causing thrombosis, vasospasm, or embolism, is now suspected as being important, and acquired and inherited cardiovascular factors are associated with an increased risk of developing SD [3][4][5][6]. One example of this is the MTHFR C677T mutation.…”

Polymorphisms in Genes Involved in Oxidative Stress Response in Patients with Sudden Sensorineural Hearing Loss and Ménière's Disease in a Japanese Population

“…In SSNHL, significant associations have been reported mainly for polymorphisms in genes related to blood vessels, circulation, or inflammation, including protein kinase C eta type (1425G/A), matrix metalloproteinase-1 ( -1607G/2G), interleukin 1A ( -889C/T), interleukin 6 ( -572C/G), methylenetetrahydrofolate reductase (C677T), prothrombin (G20210A), platelet Gly IIIaA1/ A2, and factor V Leiden (Capaccio et al, 2005a(Capaccio et al, , 2005b(Capaccio et al, , 2007(Capaccio et al, , 2009Uchida et al, 2010Uchida et al, , 2011Furuta et al, 2011;Nam et al, 2011;Hiramatsu et al 2012). In Ménière's disease, significant associations have been reported for genetic polymorphisms, such as those in the KCNE potassium channel genes (in the Japanese population, but not in Caucasians), adducin 1 (Gly460Trp), heat-shock protein 70-1 (190G/C), and interleukin 1A (-889C/T) (Doi et al, 2005;Kawaguchi et al, 2008;Teggi et al, 2008;Campbell et al, 2010;Furuta et al, 2011).…”

The Establishment of the First Cancer Tissue Biobank at a Hispanic-Serving Institution: A National Cancer Institute–Funded Initiative between Moffitt Cancer Center in Florida and the Ponce School of Medicine and Health Sciences in Puerto Rico

“…For instance, novel studies on the role of ancestry in cancer susceptibility [19][20][21][22] has prompted the need for centralized collection of DNA from blood of consented individuals, an activity that will be added onto the current procedures but which would require additional infrastructure to be developed. Other future plans of the PRTB include increased research collaborations among investigators from the partnering institutions and from other institutions; continued development of IT technologies to ensure appropriate and secure management of the data; expansion on the current use of the many caTissue and caBIG capabilities; development of a disaster recovery plan including regular data transfers to the MCC for redundancy in case of natural disasters; increased number of hospitals and community physicians involved in tissue accrual; and extension of the accrual process to liquid biospecimens.…”