5/17/2023 0 Comments Lepton gene![]() ![]() Blood pressure (BP) is a major risk factor for cardiovascular disease, and the contribution of genes to the population variability of BP is significant. Thus far, the cardiovascular effects of leptin, and the possible existence of obesity independent associations between polymorphisms of LEP and cardiovascular risk, have been relatively little studied. 3, 4 Evidence for association between commoner polymorphisms, mainly in the 5′ region of LEP, and obesity has been sought in several previous studies significant association has been found in some but not in other studies, 5– 8 and this issue remains controversial.Īlthough obesity is a risk factor for a variety of conditions, cardiovascular disease is the principal source of morbidity and mortality in obese persons. 1, 2 However, such coding sequence variation in LEP is extremely rare in general populations. Circulating leptin is produced principally by adipocytes and functions as a satiety signal coding or splice site mutations in the gene encoding leptin ( LEP) which render the leptin protein unable to signal through its receptor, produce severe childhood onset obesity. Leptin is the central hormone in the adiposity-sensing pathway. This study also provides evidence that rare polymorphisms of particular genes may have substantial effects within the normal range of certain quantitative traits. This suggests that autocrine or paracrine effects in vascular tissue may be important physiological functions of leptin. There was no association between any LEP polymorphism and either BMI or plasma leptin level.Ĭonclusions: This large family study shows that the rare T allele at the C538T polymorphism of LEP substantially influences pulse pressure and CIMT, but does not appear to exert this effect through actions on plasma leptin level or BMI. The polymorphism accounted for 3–5% of the population variation in pulse pressure and CIMT. ![]() C/T heterozygotes had a 22% lower pulse pressure and a 17% lower CIMT than C/C homozygotes. There was strong association between a rare polymorphism in the 3′ untranslated region of LEP (C538T) and both pulse pressure (p = 0.0001) and CIMT (p = 0.008). Results: The polymorphisms typed captured all common haplotypes present at LEP. BP, CIMT, BMI, and plasma leptin were measured. Methods: Five polymorphisms spanning LEP were typed in 1428 individuals from 248 nuclear families. We have examined the impact of both common and rare polymorphisms of the LEP gene on blood pressure (BP), subclinical atherosclerosis as measured by carotid intima-medial thickness (CIMT), and body mass index (BMI) in a large family study. Common polymorphisms of LEP have been associated with obesity, but their association with cardiovascular disease has been little studied. Background: Rare mutations in the leptin ( LEP) gene cause severe obesity. ![]()
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