Bensen Jeannette T, Langefeld Carl D, Hawkins Gregory A, Green Linda E, Mychaleckyj Josyf C, Brewer Catherine S, Kiger Deborah S, Binford Scott M, Colicigno Carla J, Allred Dax C, Freedman Barry I, Bowden Donald W
The Center for Human Genomics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157, USA.
Genomics. 2003 Aug;82(2):194-217. doi: 10.1016/s0888-7543(03)00123-x.
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.
在一个包含白细胞介素-1基因簇（IL1A、IL1B和IL1RN）的360 kb区域构建了一个密集的基于基因的单核苷酸多态性（SNP）图谱，重点关注IL1RN。总共通过直接测序确认或鉴定了95个多态性。多态性被精确地定位到跨越该区域的已完成的细菌人工染色体（BAC）和基因组序列上。这些多态性在来自白种人和非裔美国人组的443例病例对照受试者中进行分型。连续的成对标记连锁不平衡与距离并不严格相关，在白种人和非裔美国人中，D'分别从0.0079到1.000以及从0.0521到1.0000。评估了IL1簇基因中的单个标记和单倍型与终末期肾病（ESRD）的关联性。11个单核苷酸多态性显示出与ESRD相关的一些证据，在两个IL1A变体中关联性最强，在非2型糖尿病相关的非裔美国人ESRD患者中，一个位于内含子5的单核苷酸多态性rs1516792 - 3（p = 0.0015）以及3'非翻译区（UTR）内的一个4 bp插入/缺失rs16347 - 2（p = 0.0024）。
