Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans.
Variants in intron 13 of the ELMO1 gene are associated with diabetic nephropathy in African Americans.
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DOI：
10.1111/j.1469-1809.2008.00498.x
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发表时间：
2009-03
影响因子：
1.9
通讯作者：
Sale MM
中科院分区：
文献类型：
--
作者：
Leak TS;Perlegas PS;Smith SG;Keene KL;Hicks PJ;Langefeld CD;Mychaleckyj JC;Rich SS;Kirk JK;Freedman BI;Bowden DW;Sale MM
在一项日本队列研究中，吞噬和细胞运动1 （ELMO1）基因变异与2型糖尿病（T2DM）肾病相关。我们在非裔美国人（AA） T2DM合并终末期肾病（ESRD）患者中全面评估了该基因。在577例AA型T2DM-ESRD患者和596例AA型非糖尿病对照、43例非糖尿病欧美对照和45例尼日利亚约鲁巴样本中，对399个HapMap标记snp和9个据报道相关snp进行基因分型。对558例T2DM-ESRD患者和564例无糖尿病的对照组进行了重复分析。扩展分析包括328例AA型T2DM缺乏肾病和326例非糖尿病ESRD。原始和复制分析证实，内含子13中的4个snp（组合分析的排列P值= 0.001-0.003）、内含子1中的1个snp （P=0.004）和内含子5中的1个snp （P=0.002）与t2dm相关的ESRD相关。在随后对所有1135例T2DM-ESRD病例和1160例对照的联合分析中，另外7个内含子13 snp产生了相关性的证据（P = 3.5×10-5 - P=0.05）。在T2DM缺乏肾病或非糖尿病原因引起的ESRD患者中，这些snp未见关联。ELMO1基因13内含子的变异似乎增加了AA患者糖尿病肾病的风险。
Variants in the engulfment and cell motility 1 (ELMO1) gene are associated with nephropathy due to type 2 diabetes mellitus (T2DM) in a Japanese cohort. We comprehensively evaluated this gene in African American (AA) T2DM patients with end-stage renal disease (ESRD). Three hundred nine HapMap tagging SNPs and 9 reportedly associated SNPs were genotyped in 577 AA T2DM-ESRD patients and 596 AA non-diabetic controls, plus 43 non-diabetic European American controls and 45 Yoruba Nigerian samples for admixture adjustment. Replication analyses were conducted in 558 AAs with T2DM-ESRD and 564 controls without diabetes. Extension analyses included 328 AA with T2DM lacking nephropathy and 326 with non-diabetic ESRD. The original and replication analyses confirmed association with four SNPs in intron 13 (permutation p-values for combined analyses = 0.001-0.003), one in intron 1 (P=0.004) and one in intron 5 (P=0.002) with T2DM-associated ESRD. In a subsequent combined analysis of all 1,135 T2DM-ESRD cases and 1,160 controls, an additional 7 intron 13 SNPs produced evidence of association (P = 3.5×10-5 – P=0.05). No associations were seen with these SNPs in those with T2DM lacking nephropathy or with ESRD due to non-diabetic causes. Variants in intron 13 of the ELMO1 gene appear to confer risk for diabetic nephropathy in AA.
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影响因子：
30.8
作者：
de Bakker, PIW;Yelensky, R;Altshuler, D
通讯作者：
Altshuler, D
影响因子：
19.6
作者：
Shimazaki, A.;Tanaka, Y.;Maeda, S.
通讯作者：
Maeda, S.
DOI：
10.1073/pnas.021506298
发表时间：
2001-01-16
影响因子：
11.1
作者：
Buetow, KH;Edmonson, M;Braun, A
通讯作者：
Braun, A
影响因子：
7.7
作者：
Shimazaki, A;Kawamura, Y;Maeda, S
通讯作者：
Maeda, S
影响因子：
9.8
作者：
Wang, N;Akey, JM;Jin, L
通讯作者：
Jin, L