AHSG gene variant is associated with leanness among Swedish men
AHSG gene variant is associated with leanness among Swedish men
复制标题
AHSG 基因变异与瑞典男性的瘦削有关
作者：
C. Lavebratt;Sofia Wahlqvist;L. Nordfors;J. Hoffstedt;P. Arner
Alpha2 Heremans-Schmid糖蛋白(AHSG)是一种抑制胰岛素受体酪氨酸激酶活性的血浆蛋白。Ahsg基因敲除小鼠具有更高的胰岛素敏感性，并对饮食诱导的肥胖具有抵抗力。我们假设，在人类群体中分离的AHSG基因的功能变异将反映体重指数(BMI)的变化。我们对356名超重或肥胖(BMI：37.2[25.0-66.5]kg/m2)和148名瘦(BMI：23.7[23.4-24.9]kg/m2)的健康瑞典男性进行了AHSG基因外显子6(Rs4917)和外显子7(rs4918和Arg299Cys)的3个非同义单核苷酸多态(SNPs)和内含子1(Rs2593813)的一个SNP的基因分型。Rs2593813的G/G基因型在瘦个体中比肥胖和超重个体中更常见(优势比=2.01，P=0.009)，而rs2593813与rs4917和rs4918处于强连锁不平衡(|D‘|≥=0.97)。Rs2593813：G-rs4917：Met-rs4918：Ser型单倍型纯合子增加了肥胖的风险(优势比=1.9，P=0.027)。Rs4917：Met和rs4918：Ser以前被认为与较低的AHSG蛋白水平相关。AHSG的一种常见变体，以前与较低的AHSG蛋白水平相关，因此在苗条的男性中比肥胖和超重的男性更常见，这支持了Ahsg基因敲除小鼠的结果，即AHSG调节身体质量。
Alpha2 Heremans-Schmid glycoprotein (AHSG) is a plasma protein inhibiting the activity of the insulin receptor tyrosine kinase. Ahsg knock-out mice have increased insulin sensitivity and are resistant to diet-induced obesity. We hypothesized that functional variants of the AHSG gene segregating in the human population would reflect variation in body mass index (BMI). We genotyped 356 overweight or obese (BMI: 37.2 [25.0–66.5] kg/m2) and 148 lean (BMI: 23.7 [23.4–24.9] kg/m2) otherwise healthy Swedish men for three non-synonymous single-nucleotide polymorphisms (SNPs) within exon 6 (rs4917) and exon 7 (rs4918 and Arg299Cys) and one SNP in intron 1 (rs2593813) of the AHSG gene. The G/G genotype for rs2593813 was more common among lean than among obese and overweight individuals (odds ratio=2.01, P=0.009), whereas rs2593813 was in strong linkage disequilibrium (|D′| ≥ 0.97) with rs4917 and rs4918. Homozygosity for the rs2593813:G–rs4917:Met–rs4918:Ser haplotype conferred an increased risk for leanness (odds ratio=1.90, P=0.027). rs4917:Met and rs4918:Ser have previously been associated with lower AHSG protein level. A common variant of AHSG, previously associated with a lower AHSG protein level, is thus more common among lean than obese and overweight men, supporting the results from Ahsg knock-out mice, namely, that AHSG modulates body mass.
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影响因子：
--
作者：
P. Srinivas;A. S. Wagner;L. V. Reddy;D. D. Deutsch-D.;M. A. León;A. Goustin;G. Grunberger
通讯作者：
P. Srinivas;A. S. Wagner;L. V. Reddy;D. D. Deutsch-D.;M. A. León;A. Goustin;G. Grunberger
影响因子：
15.9
作者：
Schäfer, C;Heiss, A;Jahnen-Dechent, W
通讯作者：
Jahnen-Dechent, W
DOI：
10.1073/pnas.97.26.14478
发表时间：
2000-12-19
影响因子：
11.1
作者：
Kissebah, AH;Sonnenberg, GE;Comuzzie, AG
通讯作者：
Comuzzie, AG
影响因子：
7.7
作者：
Mathews, ST;Singh, GP;Grunberger, G
通讯作者：
Grunberger, G
影响因子：
168.9
作者：
Ketteler, M;Bongartz, P;Floege, J
通讯作者：
Floege, J