Lack of Association between Increased Carotid Intima-Media Thickening and Decreased HDL-Cholesterol in a Family with a Novel ABCA 1 Variant , G 2265 T
Lack of Association between Increased Carotid Intima-Media Thickening and Decreased HDL-Cholesterol in a Family with a Novel ABCA 1 Variant , G 2265 T
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在具有新型 ABCA 1 变异 (G 2265 T) 的家族中颈动脉内膜中层增厚与 HDL 胆固醇降低之间缺乏关联
DOI：
10.1016/j.atherosclerosis.2007.04.025
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发表时间：
2002
期刊：
影响因子：
5.3
通讯作者：
Michael Miller
中科院分区：
文献类型：
--
作者：
Seung;W. Riley;J. Rhyne;G. Friel;Michael Miller
Low HDL-cholesterol (HDL-C) concentrations are inversely correlated with cardiovascular disease, and previous studies have demonstrated that variants in the ATP-binding cassette transporter, ABCA1, are responsible for a proportion of HDL-C deficiency states. We identified a novel variant in ABCA1 in a kindred with decreased HDL-C. This variant was not identified in >200 chromosomes of healthy individuals. The proband, a heterozygote for G2265T, developed premature coronary artery disease. In addition to low HDL-C, six biological family members heterozygous for the ABCA1 variant exhibited low HDL-C concentrations compared with unaffected family members (0.83 0.32 vs 1.33 0.36 mmol/L; P 0.009). Despite the decreased HDL-C, carotid artery B-mode ultrasound studies failed to reveal increased intima-media thickening in affected individuals compared with ageand sex-matched controls. Although these data extend previous observations that a single defective ABCA1 allele may lead to decreased HDL-C, associated evidence of early atherosclerosis was not confirmed. © 2002 American Association for Clinical Chemistry
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hABC1基因5端分析：附加肽序列、启动子区域和四种多态性。
DOI：
10.1006/bbrc.2000.2652
发表时间：
2000
期刊：
Biochemical and biophysical research communications.
影响因子：
--
作者：
Pullinger,CR;Hakamata,H;Duchateau,PN;Eng,C;Aouizerat,BE;Cho,MH;Fielding,CJ;Kane,JP
通讯作者：
Kane,JP
影响因子：
8.7
作者：
Acton, S;Osgood, D;Ordovas, JM
通讯作者：
Ordovas, JM
影响因子：
15.9
作者：
Lawn, RM;Wade, DP;Oram, JF
通讯作者：
Oram, JF
人类 LCAT 基因中导致 Pro(260)-->Stop 的新型 TC 缺失与对 HDL-胆固醇的显性影响相关。
影响因子：
5.3
作者：
Kasid,A;Rhyne,J;Zeller,K;Pritchard,H;Miller,M
通讯作者：
Miller,M