Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.
Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol.
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鞘磷脂磷酸二酯酶1（SMPD1）编码变体不会导致低密度脂蛋白胆固醇的水平。
DOI：
10.1186/1471-2350-8-79
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发表时间：
2007-12-18
影响因子：
--
通讯作者：
Marcil, Michel
中科院分区：
文献类型：
--
作者：
Dastani, Zari;Ruel, Isabelle L.;Engert, James C.;Marcil, Michel
A 型和 B 型尼曼匹克病是由于鞘磷脂磷酸二酯酶 1 (SMPD1) 基因突变导致酸性鞘磷脂酶缺乏所致。据报道，在 Niemann-Pick 患者中，SMPD1 基因缺陷与血浆高密度脂蛋白 (HDL) 胆固醇的严重降低有关。 SMPD1 基因中两个常见的编码多态性，G1522A (G508R) 和信号肽区域内的六核苷酸重复序列，在 118 名血浆 HDL 胆固醇水平低（年龄和性别匹配受试者< 5%）的法裔加拿大人血统的无关受试者中进行了研究。对照受试者 (n = 230) 的 HDL 胆固醇水平 > 第 25 个百分位。对于 G1522A，对照组中 G 和 A 等位基因的频率分别为 75.2% 和 24.8%，而低 HDL 胆固醇受试者中的频率分别为 78.6% 和 21.4% (p = 0.317)。对照组中 6 和 7 个六核苷酸重复的频率分别为 46.2% 和 46.6%，而低 HDL 胆固醇受试者中的频率分别为 45.6% 和 49.1% (p = 0.619)。在病例和对照中观察到十种不同的单倍型。病例和对照的总体单倍型频率没有显着差异。这些结果表明，SMPD1 基因位点的两种常见编码变异与法裔加拿大人群的低 HDL 胆固醇水平无关。
Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are reported to be associated with a severe reduction in plasma high-density lipoprotein (HDL) cholesterol. Two common coding polymorphisms in the SMPD1 gene, the G1522A (G508R) and a hexanucleotide repeat sequence within the signal peptide region, were investigated in 118 unrelated subjects of French Canadian descent with low plasma levels of HDL-cholesterol (< 5th percentile for age and gender-matched subjects). Control subjects (n = 230) had an HDL-cholesterol level > the 25th percentile. For G1522A the frequency of the G and A alleles were 75.2% and 24.8% respectively in controls, compared to 78.6% and 21.4% in subjects with low HDL-cholesterol (p = 0.317). The frequency of 6 and 7 hexanucleotide repeats was 46.2% and 46.6% respectively in controls, compared to 45.6% and 49.1% in subjects with low HDL-cholesterol (p = 0.619). Ten different haplotypes were observed in cases and controls. Overall haplotype frequencies in cases and controls were not significantly different. These results suggest that the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population.
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影响因子：
5.8
作者：
Alenezi, MY;Marcil, M;Genest, J
通讯作者：
Genest, J
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5.3
作者：
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4
作者：
VIANA, MB;GIUGLIANI, R;FENSOM, A
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6.5
作者：
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影响因子：
5.1
作者：
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通讯作者：
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