Nucleotide variation, haplotype structure, and association with end-stage renal disease of the human interleukin-1 gene cluster.

Abstract:

:A dense gene-based SNP map was constructed across a 360-kb region containing the interleukin-1 gene cluster (IL1A, IL1B, and IL1RN), focusing on IL1RN. In total, 95 polymorphisms were confirmed or identified primarily by direct sequencing. Polymorphisms were precisely mapped to completed BAC and genomic sequences spanning this region. The polymorphisms were typed in 443 case-control subjects from Caucasian and African American groups. Consecutive pair-wise marker linkage disequilibrium was not strictly correlated with distance and ranged from D'=0.0079 to 1.000 and D'=0.0521 to 1.0000 in Caucasians and African Americans, respectively. Single markers and haplotypes in IL1 cluster genes were evaluated for association with end-stage renal disease (ESRD). Eleven SNPs show some evidence of association with ESRD, with the strongest associations in two IL1A variants, one SNP, rs1516792-3, in intron 5 (p=0.0015) and a 4-bp insertion/deletion within the 3'UTR, rs16347-2 (p=0.0024), among African Americans with non-T2DM-associated ESRD.

journal_name

Genomics

journal_title

Genomics

authors

Bensen JT,Langefeld CD,Hawkins GA,Green LE,Mychaleckyj JC,Brewer CS,Kiger DS,Binford SM,Colicigno CJ,Allred DC,Freedman BI,Bowden DW

doi

10.1016/s0888-7543(03)00123-x

subject

Has Abstract

pub_date

2003-08-01 00:00:00

pages

194-217

issue

2

eissn

0888-7543

issn

1089-8646

pii

S088875430300123X

journal_volume

82

pub_type

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