دورية أكاديمية
أعرض في EDS

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

التفاصيل البيبلوغرافية
العنوان: A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
المؤلفون: Grassmann F; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH
المصدر: Neuromolecular medicine [Neuromolecular Med] 2015 Jun; Vol. 17 (2), pp. 111-20. Date of Electronic Publication: 2015 Feb 14.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 101135365 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1174 (Electronic) Linking ISSN: 15351084 NLM ISO Abbreviation: Neuromolecular Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Totowa, NJ : Humana Press, c2002-
مواضيع طبية MeSH: Genetic Association Studies* , Polymorphism, Single Nucleotide*, Eye Proteins/*genetics , Macular Degeneration/*genetics , Membrane Proteins/*genetics, Apoptosis ; Case-Control Studies ; Cell Differentiation ; DNA, Complementary/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Haplotypes/genetics ; Humans ; Male ; Protein Isoforms/genetics ; Retina/metabolism ; Retina/pathology ; Risk ; Sequence Analysis, DNA ; Sequence Deletion ; Sex Characteristics
مستخلص: Age-related macular degeneration (AMD) is the leading cause of blindness among white caucasians over the age of 50 years with a prevalence rate expected to increase markedly with an anticipated increase in the life span of the world population. To further expand our knowledge of the genetic architecture of the disease, we pursued a candidate gene approach assessing 25 genes and a total of 109 variants. Of these, synonymous single nucleotide polymorphism (SNP) rs17810398 located in death-associated protein-like 1 (DAPL1) was found to be associated with AMD in a joint analysis of 3,229 cases and 2,835 controls from five studies [combined PADJ = 1.15 × 10(-6), OR 1.332 (1.187-1.496)]. This association was characterized by a highly significant sex difference (Pdiff = 0.0032) in that it was clearly confined to females with genome-wide significance [PADJ = 2.62 × 10(-8), OR 1.541 (1.324-1.796); males: PADJ = 0.382, OR 1.084 (0.905-1.298)]. By targeted resequencing of risk and non-risk associated haplotypes in the DAPL1 locus, we identified additional potentially functional risk variants, namely a common 897-bp deletion and a SNP predicted to affect a putative binding site of an exonic splicing enhancer. We show that the risk haplotype correlates with a reduced retinal transcript level of two, less frequent, non-canonical DAPL1 isoforms. DAPL1 plays a role in epithelial differentiation and may be involved in apoptotic processes thereby suggesting a possible novel pathway in AMD pathogenesis.
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معلومات مُعتمدة: P30 EY019007 United States EY NEI NIH HHS; R01 EY013435 United States EY NEI NIH HHS; EY013435 United States EY NEI NIH HHS; EY019007 United States EY NEI NIH HHS
المشرفين على المادة: 0 (DAPL1 protein, human)
0 (DNA, Complementary)
0 (Eye Proteins)
0 (Membrane Proteins)
0 (Protein Isoforms)
تواريخ الأحداث: Date Created: 20150215 Date Completed: 20160421 Latest Revision: 20181113
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC4419162
DOI: 10.1007/s12017-015-8342-1
PMID: 25680934
قاعدة البيانات: MEDLINE
الوصف
تدمد:1559-1174
DOI:10.1007/s12017-015-8342-1