Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure.
Polymorphism in exon 4 of the human 3 beta-hydroxysteroid dehydrogenase type I gene (HSD3B1) and blood pressure.
复制标题
人类 3 β-羟基类固醇脱氢酶 I 型基因 (HSD3B1) 外显子 4 的多态性与血压。
DOI：
10.1016/s0006-291x(02)00234-6
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发表时间：
2002
影响因子：
3.1
通讯作者：
P. Björntorp
中科院分区：
文献类型：
--
作者：
R. Rosmond;M. Chagnon;C. Bouchard;P. Björntorp
There is growing evidence to the effect that steroid hormones are associated with a complex phenotype of metabolic abnormalities usually referred to as the metabolic syndrome. The 3β-hydroxysteroid dehydrogenases/Δ4,5-isomerase (3β-HSD) is crucial to the biosynthesis of hormonal steroids, including aldosterone, cortisol, and testosterone. The objective of the present study was to examine the potential impact of a T→C substitution at codon Leu338of the type I (HSD3B1) 3β-HSD gene on obesity, circulating hormones, and estimates of insulin, glucose, and lipid metabolism as well as blood pressure in 284 unrelated Swedish men born in 1944. The subjects were genotyped by using PCR amplification of exon 4 of the HSD3B1 gene followed by digestion with the restriction enzyme BglII. The frequency of allele T was 0.44 and that of allele C 0.56. Homozygotes for the C allele (n=75) had significantly (P<0.05) higher mean systolic and diastolic blood pressures compared to both heterozygotes (n=143) and homozygotes for the T allele (n=45). In addition, the C allele was significantly (P=0.018) more frequent among subjects with grade 1 hypertension (>140/90mm Hg) compared to normotensive (<130/85mm Hg) subjects. These results were all adjusted for the potential confounding effect of body mass index (BMI) and waist-to-hip ratio (WHR). Other measurements such as BMI, WHR, abdominal sagittal diameter, salivary cortisol, total testosterone, serum leptin, fasting insulin and glucose, and serum lipids were not different across the HSD3B1 genotype groups. In conclusion, a T→C polymorphism at codon Leu338of exon 4 of the HSD3B1 gene is associated with elevated systolic and diastolic blood pressures. The pathogenic mechanism underlying this association is, however, uncertain from the present data and further studies are warranted.
尼日利亚人、牙买加人和非裔美国人中肾素-血管紧张素基因的多态性。
DOI：
10.1161/01.hyp.27.3.558
发表时间：
1996
期刊：
Hypertension (Dallas, Tex. : 1979)
影响因子：
--
作者：
Rotimi,C;Puras,A;Cooper,R;McFarlane-Anderson,N;Forrester,T;Ogunbiyi,O;Morrison,L;Ward,R
通讯作者：
Ward,R
DOI：
10.1056/nejm199407283310408
发表时间：
1994-07
期刊：
The New England journal of medicine
影响因子：
--
作者：
P. White
通讯作者：
P. White