4.6 Article

A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease

期刊

THYROID
卷 12, 期 12, 页码 1129-1135

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MARY ANN LIEBERT, INC
DOI: 10.1089/105072502321085234

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  1. NIDDK NIH HHS [DK45011, DK35764, DK31775, DK52464, DK02498, DK58072] Funding Source: Medline
  2. NIMH NIH HHS [MH48858] Funding Source: Medline
  3. NINDS NIH HHS [NS27941] Funding Source: Medline

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Graves' disease (GD) develops as a result of an interaction between susceptibility genes and environmental factors. We have previously mapped a susceptibility locus for GD on chromosome 20q11 (GD-2), which has recently been independently replicated. Among the genes mapped to 20q11 was the CD40 gene, an important costimulatory molecule and a good positional candidate gene for GD. We investigated whether the CD40 gene was the GD susceptibility gene on 20q11. Linkage analysis in a subset of Caucasian families showed a maximum multipoint logarithm of odds (LOD) score of 3.3 at the CD40 locus. We then sequenced all 9 exons of the CD40 gene in 8 probands and 10 controls and identified a new C/T single-nucleotide polymorphism (SNP) in the Kozak sequence of the CD40 gene at position -1. Case control association analysis of the CD40 C/T-1 SNP in 154 Caucasian patients with GD and 118 Caucasian controls showed an association between the CC genotype and GD (p = 0.048, relative risk [RR] = 1.6). Furthermore, the association was stronger when only the probands from the linked families (n = 20) were used (p = 0.009, RR = 4.8). Transmission disequilibrium test (TDT) analysis also showed preferential transmission of the C allele of the CD40 C/T-1 SNP to affected individuals (p = 0.02). In conclusion, our results suggested that the CD40 gene was a new susceptibility gene for GD within certain families because it was both linked and associated with GD.

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