Three polymorphisms associated with low hepatic lipase activity are common in African Americans.
Three polymorphisms associated with low hepatic lipase activity are common in African Americans.
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发表时间：
1998-09
影响因子：
6.5
通讯作者：
Liangcai Nie;Sijing Niu;G. Vega;L. Clark;A. Tang;S. Grundy;Jonathan Cohen
中科院分区：
文献类型：
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作者：
Liangcai Nie;Sijing Niu;G. Vega;L. Clark;A. Tang;S. Grundy;Jonathan Cohen
我们之前已经表明，肝脂肪酶等位基因（指定-514T）在非裔美国人中很常见，并导致该人群中肝脂肪酶活性低。为了鉴定该人群中与低肝脂肪酶活性相关的其他肝脂肪酶等位基因，对20名低肝脂肪酶活性的非裔美国男性的肝脂肪酶基因的编码区和内含子-外显子边界进行了测序。两种多态性（N193S和L334F）与低肝素后血浆肝脂肪酶活性相关，在非裔美国人中比在白人中更常见。这一发现，加上我们之前关于-514T等位基因的数据，表明至少有三种不同的肝脂肪酶多态性与低肝脂肪酶活性相关，在非裔美国人中很常见。肝脂肪酶单倍型分析显示，97%的非裔美国人至少有一个与低肝脂肪酶活性相关的肝脂肪酶等位基因。
We have shown previously that a hepatic lipase allele (designated -514T) is common among African Americans and contributes to low hepatic lipase activity in this population. To identify other hepatic lipase alleles associated with low hepatic lipase activity in this population, the coding region and intron-exon boundaries of the hepatic lipase gene were sequenced in 20 African American men with low hepatic lipase activity. Two polymorphisms (N193S and L334F) were associated with low post-heparin plasma hepatic lipase activity and were much more common in African Americans than in whites. This finding, together with our previous data on the -514T allele, indicates that at least three different hepatic lipase polymorphisms associated with low hepatic lipase activity are common among African Americans. Analysis of hepatic lipase haplotypes revealed that 97% of African Americans have at least one hepatic lipase allele that is associated with low hepatic lipase activity.