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Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

ABSTRACT: Mutations in the LMNA gene, encoding the nuclear envelope protein lamin A/C, are responsible for a number of distinct disease entities including Dunnigan-type familial partial lipodystrophy. Dunningan-type lipodystrophy is characterized by loss of subcutaneous adipose tissue, insulin resistance, dyslipidemia, and type 2 diabetes and shares many of the features of the metabolic syndrome. Furthermore, several genome-wide linkage scans for type 2 diabetes have found evidence of linkage at chromosome 1q21.2, the region that harbors the LMNA gene. Therefore, LMNA is a biological and positional candidate for type 2 diabetes susceptibility. Previous studies have reported association between a common LMNA variant (1908C>T; rs4641) and adverse metabolic traits in ethnically diverse populations from Asia and North America. In the present study, we characterized the common variation across the LMNA gene (including rs4641) and tested for association with type 2 diabetes in two large case-control studies (n = 2,052) and with features of the metabolic syndrome in a separate cohort study (n = 1,572). Despite our study being sufficiently powered to detect effects similar and even smaller in magnitude than those previously reported, none of the LMNA single nucleotide polymorphisms were statistically significantly associated with type 2 diabetes or the metabolic syndrome. Thus, it appears unlikely that variation at LMNA substantially increases the risk of type 2 diabetes or related traits in U.K. Europids.

SUBMITTER: Mesa JL

PROVIDER: S-EPMC2668858 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature

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Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

Mesa José L JL Loos Ruth J F RJ Franks Paul W PW Ong Ken K KK Luan Jian'an J O'Rahilly Stephen S Wareham Nicholas J NJ Barroso Inês I

Diabetes 20070301 3

Mutations in the LMNA gene, encoding the nuclear envelope protein lamin A/C, are responsible for a number of distinct disease entities including Dunnigan-type familial partial lipodystrophy. Dunningan-type lipodystrophy is characterized by loss of subcutaneous adipose tissue, insulin resistance, dyslipidemia, and type 2 diabetes and shares many of the features of the metabolic syndrome. Furthermore, several genome-wide linkage scans for type 2 diabetes have found evidence of linkage at chromosom ...[more]

PMID: 17327461

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Project description:BackgroundGC (group-specific component globulin) encoding VDBP (Vitamin D binding protein) polymorphisms have been associated with susceptibility to some diseases such as diabetes, obesity, osteoporosis, and polycystic ovary syndrome, but the evidence for metabolic syndrome (MetS) in the Chinese rural population is inconclusive. Therefore, we investigated the relationship between GC variants (rs7041, rs4588, rs2282679, and rs705117) and MetS risk as well as VDBP levels in the Chinese rural population.Patients and methodsThe participants (range of age: 20-90 years) of this case-control study were recruited from the northern Chinese Han rural population. We matched 445 MetS cases with non-MetS controls in a 1:1 ratio by sex, age (within 5 years). Real-time PCR technology was carried out by TaqMan assays to examine the four variants of rs7041, rs4588, rs2282679, and rs705117 within the GC gene. To identify the association of GC gene polymorphisms with MetS, we calculated ORs using a conditional logistic regression model adjusted for potential confounding factors.ResultsWe observed inverse associations of CA and AA genotypes of rs4588 with risk of MetS (OR = 0.678, 95% CI 0.505-0.910, P = 0.010; 0.603, 95% CI 0.373-0.973, P = 0.039, respectively) compared with carriers of CC genotype. A similar relationship was also found between rs2282679 and MetS, showing that carrying AC genotype of rs2282679 can decrease the risk of MetS (OR = 0.683, 95% CI 0.509-0.917, P = 0.011) compared with carriers of AA genotype. The results of correlation analysis between MetS components and GC polymorphisms showed that the ORs of AA genotype of rs4588 with high level of TG (triglycerides) and low level of HDL-C (high-density lipoprotein cholesterol) were 0.473 (95% CI 0.245-0.911, P = 0.025) and 0.268 (95% CI 0.117-0.615, P = 0.002), respectively; the ORs of CC genotype of rs2282679 with high level of TG and low level of HDL-C were 0.428 (95% CI 0.217-0.842, P = 0.014) and 0.263 (95% CI 0.110-0.628, P = 0.003), respectively. However, there was no significant association between the concentration of VDBP and MetS risk.ConclusionAmong the Chinese rural population, GC polymorphism was associated with lower metabolic syndrome susceptibility, which might be through affecting blood lipid levels (TG and HDL-C).

Project description:Background and aimMetabolic syndrome (MetS) is a well-known noncommunicable disease that plays a significant role in emerging other chronic disorders and following complications. MetS is also involved in the pathophysiology of numerous dermatological diseases. We aim to evaluate the association of MetS with the most prevalent dermatological diseases.MethodsA systematic search was carried out on PubMed, Science Direct, Web of Science, Cochrane, as well as the Google Scholar search engine. Only English case-control studies regarding MetS and any skin disease from the beginning of 2010 up to November 15, 2022, were selected. The study was conducted based on the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA).ResultsA total of 37 studies (13,830 participants) met the inclusion criteria. According to our result, patients with psoriasis, hidradenitis suppurativa (HS), vitiligo, androgenetic alopecia (AGA), and lichen planus (LP) have a higher chance of having MetS compared to the general population. Furthermore, people with seborrheic dermatitis (SED) and rosacea are more prone to insulin resistance, high blood pressure (BP), and higher blood lipids. After pooling data, the meta-analysis revealed a significant association between MetS and skin diseases (pooled odds ratio [OR]: 3.28, 95% confidence interval: 2.62-4.10). Concerning the type of disease, MetS has been correlated with AGA (OR: 11.86), HS (OR: 4.46), LP (OR: 3.79), and SED (OR: 2.45). Psoriasis also showed a significant association but with high heterogeneity (OR: 2.89). Moreover, skin diseases and MetS are strongly associated in Spain (OR: 5.25) and Thailand (OR: 11.86). Regarding the metaregression model, the effect size was reduced with increasing age (OR: 0.965), while the size increased with AGA (OR: 3.064).ConclusionsMetS is closely associated with skin complications. Dermatologists and other multidisciplinary teams should be cautious while treating these patients to prevent severe complications resulting from MetS.

Dataset Information

Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

Publications

Lamin A/C polymorphisms, type 2 diabetes, and the metabolic syndrome: case-control and quantitative trait studies.

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