Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women
Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women
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DOI：
10.1111/j.1399-0004.2004.00309.x
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发表时间：
2004-10-01
影响因子：
3.5
通讯作者：
Ordovas, JM
中科院分区：
文献类型：
--
作者：
Qi, L;Corella, D;Ordovas, JM
Perilipin 覆盖细胞内脂滴并调节脂肪细胞脂肪分解。我们评估了从西班牙普通人群中随机选择的 1589 名白人受试者中，周脂质 (PLIN) 位点的几种多态性（PLIN1：6209T > C、PLIN4：11482G > A、PLIN5：13041A > G 和 PLIN6：14995A > T）与肥胖相关表型之间的关联。在女性 (n = 801) 中，不太常见的 PLIN1 和 PLIN4 等位基因处于强连锁不平衡状态 (D': 0.96)，与较低的体重指数显着相关。 PLIN1 基因座上的等位基因 2 (6209C) 携带者的体重明显低于野生型基因型的女性纯合子（-2.2 kg；p = 0.007）。 PLIN4 上的 11482A 载波也是如此 (p = 0.01)。此外，PLIN4 变异与腰臀比、血浆葡萄糖和三酰甘油浓度显着降低相关。在男性中没有发现与这些肥胖相关表型存在显着关联。与这些结果一致，在估计肥胖风险时获得了统计上显着的基因-性别相互作用（281 名受试者肥胖，1308 名非肥胖受试者）。仅在女性中，PLIN1 和 PLIN4 变异等位基因（6209C 和 11482A）与较低的肥胖风险相关[分别为比值比 (OR) = 0.58，95% 置信区间 (CI)：0.38-0.93 和 OR = 0.56，95% CI：0.36-0.89]。总之，我们的数据表明 PLIN 基因座的常见等位基因调节人类的体重和代谢变量。
Perilipin coats intracellular lipid droplets and modulates adipocyte lipolysis. We have evaluated the association between several polymorphisms at the perilipin (PLIN) locus (PLIN1 : 6209T > C, PLIN4 : 11482G > A, PLIN5 : 13041A > G, and PLIN6 : 14995A > T) with obesity-related phenotypes in 1589 White subjects randomly selected from a general Spanish population. In women (n = 801), the less common alleles of PLIN1 and PLIN4, in strong linkage disequilibrium (D' : 0.96), were significantly associated with lower body mass index. Carriers of the allele 2 (6209C) at the PLIN1 locus weighed significantly less (-2.2 kg; p = 0.007) than women homozygotes for the wild-type genotype. The same was true for 11482A carriers at PLIN4 (p = 0.01). Moreover, the PLIN4 variant was associated with significantly lower waist-to-hip ratio, plasma glucose, and triacylglycerol concentrations. No significant associations with these obesity-related phenotypes were found in men. In agreement with these results, statistically significant gene-gender interactions were obtained when the risk of obesity was estimated (281 subjects were obese and 1308 non-obese). Only in women, PLIN1 and PLIN4 variant alleles (6209C and 11482A) were associated with a lower obesity risk [Odds ratio (OR) = 0.58, 95% confidence interval (CI): 0.38-0.93 and OR = 0.56, 95% CI: 0.36-0.89, respectively]. In summary, our data suggest that common alleles at the PLIN locus modulate body weight and metabolic variables in humans.