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미국
Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians
Background A close association between Sst I polymorphism in the 3' untranslated region of the apolipoproteinC3 (APOC3) gene and levels of plasma triglycerides (TG) had been reported by different investigators. Hypertriglyceridemia(HTG) is a known risk factor for coronary artery disease (CAD) in the context of Asian Indians. We conducted a study on the relationship between APOC3 SstI polymorphism (S1S1, S1S2 and S2S2 genotypes) and plasma TG levels in a group of 139 male healthy volunteers from Northern India. Methods DNA samples were analyzed by polymerase chain reaction (PCR) followed by SstI digestion. Digested PCR products were run on 3% agarose gel and visualized by ethidium bromide staining. Results Rare S2 allele was highly prevalent in our study population (0.313) as compared to the Caucasians (0.00–0.11). The genotypic distribution was in agreement with Hardy-Weinberg equilibrium. S2 allele was almost two times more prevalent in the HTG group (N = 34) as compared to NTG group (N = 105) (p = 0.001). Multiple logistic regression revealed S1S2 individuals had age-adjusted odds ratio of 2.43 (95%CI = 0.99–6.01, p = 0.054) and S2S2 had 9.9 (95%CI = 2.66–37.29, p = 0.0006) for developing HTG in comparison to S1S1 genotype. Conclusions Our study shows a significant association between rare S2 allele and HTG in Asian Indians.
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Platelet count and Interleukin 6 Gene polymorphism in healthy subjects
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Background Interleukin 6 (IL-6) is thought to play important roles in the development of reactive thrombocytosis caused by inflammation by its stimulatory effect on megakaryocytopoiesis. A G/C polymorphism of the IL-6 gene at position -174 has been found to be associated to different transcription rates. Specifically, subjects with the CC genotype showed lower plasma IL-6 levels compared with GC or GG subjects. Given this difference in transcription rates of IL-6 we speculated on different platelet count according to this IL-6 polymorphism. Methods The G/C polymorphism of the IL-6 gene at position -174, serum IL-6 concentration and platelet count were prospectively analyzed in 59 (25 women) consecutive healthy subjects. Results Subjects who were homozygotes for the C allele at position -174 of the IL-6 gene (Sfa NI genotype) showed significantly lower platelet count than carriers of the G allele, despite similar age, sex, body mass index and proportion of smokers (205400 ± 44088 vs 239818 ± 60194, p = 0.047). This was in parallel to differences in peripheral white blood cell count (5807 ± 1671 vs 6867 ± 1192 × 109/ml, p = 0.01). Conclusion This is the first description, to our knowledge, of a genetical influence on basal platelet counts, which appears to be partially dependent on a polymorphism of the IL-6 gene, even in the absence of inflammation.
Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians.
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Background The role of glucokinase (GCK) in the pathogenesis of maturity-onset diabetes of the young is well established. However, its role in the common form of type 2 diabetes is far from convincing. We investigated the role of the G-to-A polymorphism in the hepatic GCK promoter on insulin sensitivity and beta cell function in 63 normotensive Asian Indians with normal glucose tolerance. As proposed by Matsuda and DeFronzo, hepatic insulin sensitivity (ISIH) and total body insulin sensitivity (ISIM) were estimated from the oral glucose tolerance test. Beta cell function was estimated using %B from the Homeostasis Model Assessment and insulingenic index (dI/dG). Result We identified 38 GG, 24 GA, and one AA subjects. The AA subject was pooled with the GA subjects during the analysis. No difference was noted in the demographic features between the two genotypic groups (GG vs. GA/AA). Compared to the GG group, the GA/AA group had a lower ISIH (p=0.002), a lower ISIM (p=0.009), a higher %B (p=0.014), and a higher dI/dG (p=0.030). Multivariate analysis revealed that this polymorphism is an independent determinant for ISIH (p=0.019) and along with age, waist-hip ratio, gender, and diastolic blood pressure accounted for 51.5% of the variation of ISIH. However, this polymorphism was a weak, but independent determinant for ISIM (p=0.089) and %B (p=0.083). Furthermore, it had no independent effect on dI/dG (p=0.135). Conclusions These data suggest that the G-to-A polymorphism in the hepatic GCK promoter is associated with hepatic insulin resistance in Asian Indians.
Apolipoprotein E gene polymorphism is not a strong risk factor for diabetic nephropathy and retinopathy in Type I diabetes: case-control study
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Background The gene encoding apolipoprotein E (APOE) has been proposed as a candidate gene for vascular complications in Type I diabetes. This study aimed to investigate the influence of three-allelic variations in the APOE gene for the development of diabetic retinopathy and nephropathy. Results Neither APOE alleles frequencies or APOE genotypes frequencies differed between Type I diabetic groups either with or without nephropathy. Similar results were found for patients with and without diabetic retinopathy. Conclusions APOE gene polymorphism does not determine genetic susceptibility for the development of diabetic retinopathy in Type I diabetes patients. Association between APOE gene polymorphism and diabetic nephropathy may be weak or moderate, but not strong.
가톨릭대학교 서울성모병원 - (서울)당뇨 환자의 공존질환 분석 혈액 검사
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당뇨병 환자들이 시행한 혈액 검사 결과를 이용하여 공존질환과의 관련성을 평가할 수 있는 검사 데이터를 포함함. 검사 항목은 HbA1c, TC, TG, HDL, LDL로 신장병증, 망막병증, 심근경색, 백내장과 혈관성 질환의 평가가 가능함. - HbA1c(당화혈색소): 혈액 속 적혈구 내 혈색소에 포도당 일부가 결합한 상태. 일반 혈당 검사가 검사 시점 혈당만을 알 수 있는데 반해 당화혈색소를 통해 3개월 간의 평균 혈당을 알 수 있음 - Total Cholesterol(TC, 총콜레스테롤) : 혈액 내에 있는 모든 콜레스테롤을 뜻함 - Triglyceride(TG, 중성지방): 혈 중 트리글리세라이드의 양을 측정. 혈 중 트리글리세라이드가 증가하는 이유는 분명하지 않으나 심혈관 질환으로 진행될 위험의 증가와 관련이 있음 - HDL(High Density Lipoprotein Cholesterol): 좋은 콜레스테롤이라고도 불리는 고밀도 지단백 콜레스테롤로 콜레스테롤을 흡수하여 간으로 다시 운반함. 높은 HDL cholesterol은 심장질환과 뇌졸중 위험을 낮출 수 있음 - LDL(Low Density Lipoprotein Cholesterol): 나쁜 콜레스테롤이라고도 불리는 저밀도 지단백 콜레스테롤. 신체 콜레스테롤의 대부분을 차지하며 수치가 높으면 심장질환 및 뇌놀중 위험이 높아짐