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载脂蛋白基因的DNA多态性与原发性痛风的高甘油三酯血症相关。

A DNA polymorphism of an apoprotein gene associates with the hypertriglyceridaemia of primary gout.

作者信息

Ferns G A, Lanham J, Dieppe P, Galton D J

机构信息

Department of Lipid Research, St. Bartholomew's Hospital, West Smithfield, London, UK.

出版信息

Hum Genet. 1988 Jan;78(1):55-9. doi: 10.1007/BF00291235.

Abstract

Genomic hybridization analysis has been used to investigate allelic frequencies of the genes coding for the four major apoproteins of high density lipoprotein (HDL); apoproteins AI, AII, CII and CIII, in a group of Caucasian subjects with primary gout. An uncommon allelic variant of the apoprotein CIII gene (the S2 allele) was significantly more common among the patients with gout (9/48, 19%) than among normouricaemic controls who were either randomly selected (1/41, 2%, P = 0.03) or normotriglyceidaemic (0/33, 0%, P = 0.013). Approximately 46% (22/48) of the subjects with gout were hypertriglyceridaemic (with a serum triglyceride greater than 2.1 mmol/l). Of the 22 patients in this subgroup, 5 (23%) had the uncommon S1S2 genotype, which was also a significantly greater proportion than among the normotriglyceridaemic controls (P = 0.015). These data suggest that the hypertriglyceridaemia associated with primary gout may have a genetic basis. In contrast, we found no differences in the frequencies of restriction fragment length polymorphisms of the genes for apoproteins AI, AII and CII.

摘要

基因组杂交分析已用于研究一组原发性痛风的白种人受试者中,编码高密度脂蛋白(HDL)四种主要载脂蛋白的基因的等位基因频率;即载脂蛋白AI、AII、CII和CIII。载脂蛋白CIII基因的一种罕见等位基因变体(S2等位基因)在痛风患者中(9/48,19%)明显比随机选择的正常尿酸血症对照组(1/41,2%,P = 0.03)或正常甘油三酯血症对照组(0/33,0%,P = 0.013)更为常见。大约46%(22/48)的痛风患者患有高甘油三酯血症(血清甘油三酯大于2.1 mmol/l)。在该亚组的22名患者中,5名(23%)具有罕见的S1S2基因型,这一比例也明显高于正常甘油三酯血症对照组(P = 0.015)。这些数据表明,与原发性痛风相关的高甘油三酯血症可能有遗传基础。相比之下,我们发现载脂蛋白AI、AII和CII基因的限制性片段长度多态性频率没有差异。

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