ライフサイエンスコーパス: FCHL

1 FCHL and FHTG appear more alike than dissimilar.

2 FCHL and FHTG were diagnosed in 10.2% and 12.3% of 334 r

3 FCHL and isolated hypertriglyceridemias are probably tra

4 FCHL, characterized by elevated levels of serum total ch

5 Although FCHL is the most common cause of premature coronary arte

6 data analysis of families with low HDL-C and FCHL.

7 enotypic overlap between type 2 diabetes and FCHL, both predisposing to high serum triglycerides and

8 s between isolated hypertriglyceridemias and FCHL.

9 study of a complex genetic disorder, such as FCHL, that lacks a consensus on diagnostic criteria, is

10 eridemias and the genetic difference between FCHL and isolated hypertriglyceridemias have not been th

11 ication of potential genetic overlap between FCHL and the Metabolic Syndrome, which is estimated to a

12 Phenotypic overlap between FCHL and type 2 diabetes makes USF1 a compelling positio

13 r the elevated CAD risk associated with both FCHL and FHTG.

14 The diagnosis of either FCHL or FHTG in an individual was associated with an odd

15 subset of 35 Dutch families ascertained for FCHL, we screened the genome, with a panel of 399 geneti

16 ysis, we unified the diagnostic criteria for FCHL and its component traits and combined the data from

17 A 'major' gene for FCHL has been identified in a Finnish isolate which maps

18 dence for a candidate chromosomal region for FCHL and support the concept that FCHL is complex and he

19 del may provide clues to the origin of human FCHL.

20 Familial combined hyperlipidaemia (FCHL) is a common, multifactorial disorder associated wi

21 Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are 2 of

22 agnosed as familial combined hyperlipidemia (FCHL) and primary isolated hypertriglyceridemias.

23 ibility to familial combined hyperlipidemia (FCHL) and triglyceride levels.

24 lizes with familial combined hyperlipidemia (FCHL) and type 2 diabetes on chromosome 1q22-23.

25 agnosis of familial combined hyperlipidemia (FCHL) carries a substantially greater risk of premature

26 in Finnish familial combined hyperlipidemia (FCHL) families.

27 Familial combined hyperlipidemia (FCHL) is a common familial lipid disorder characterized

28 Familial combined hyperlipidemia (FCHL) is a common inherited lipid disorder, affecting 1

29 Familial combined hyperlipidemia (FCHL) is a complex genetic disorder of unknown etiology.

30 tiology of familial combined hyperlipidemia (FCHL), a highly atherogenic disorder affecting 1-2% of t

31 ng to CHD, familial combined hyperlipidemia (FCHL), affecting 1%-2% of Western populations and 10%-20

32 Familial combined hyperlipidemia (FCHL), characterized by elevated levels of serum total c

33 tained for familial combined hyperlipidemia (FCHL), expressing low HDL-C as one component trait.

34 Familial combined hyperlipidemia (FCHL, MIM-144250) is a common, multifactorial and hetero

35 Further, the risk of CAD in FCHL and FHTG was strongly related to features of the me

36 d rs17145738 in MLXIPL were more frequent in FCHL.

37 b), including those previously implicated in FCHL-susceptibility (or proxies thereof) in 3,726 sample

38 ilies (relative risk 2.7, P=0.02) but not in FCHL families (relative risk 1.5, P=0.16) after adjustme

39 as increased among siblings and offspring in FCHL (relative risk 1.7, P=0.02) after adjustment for ba

40 spective study establishes that relatives in FCHL families are at increased risk for CVD mortality an

41 Like FCHL patients, HcB-19 mice also exhibit increased secret

42 Metabolic syndrome was identified in 65% of FCHL and 71% of FHTG patients compared with 19% in contr

43 ridemias and hypercholesterolemia in case of FCHL.

44 use model displaying some of the features of FCHL was created by crossing mice carrying the human apo

45 ontribute to the pernicious lipid profile of FCHL, and that these genes reside within the 1q21-23, 11

46 C3/A4/A5 gene cluster in the transmission of FCHL.

47 osome 3 in a region syntenic with a 1q21-q23 FCHL locus identified in Finnish, German, Chinese and US

48 region for FCHL and support the concept that FCHL is complex and heterogeneous.

49 and other recent studies which indicate that FCHL is genetically heterogeneous.

50 We show that FCHL is linked and associated with the gene encoding ups

51 The 2p25.1 region was detected for the FCHL trait, and the 9p23 and 16q24.1 regions were detect

52 Recently, 'modifier' genes of the FCHL phenotype, such as the apolipoprotein AI-CIII-AIV g

53 omal regions linked to genes contributing to FCHL.

54 This region has also been linked to FCHL in families from other populations as well as to ty

55 We previously identified a locus linked to FCHL on 1q21-q23 in Finnish families with the disease.

56 We sequenced USF1 in 24 UK FCHL probands, but found no rare or common cSNPs.

57 been shown to harbour a gene associated with FCHL in families from a Finnish isolate.

58 7 (the variant most strongly associated with FCHL), the combined odds ratio, per copy of the rarer A-

59 perlipidemia in mice, is not associated with FCHL.

60 factor 1 (USF1) in 60 extended families with FCHL, including 721 genotyped individuals (P = 0.00002),

61 -C and a locus on 2ptel in the families with FCHL.

62 sample and in additional Dutch families with FCHL.

63 B-19/Dem (HcB-19), that shares features with FCHL, including hypertriglyceridemia, hypercholesterolem

64 Individuals with FCHL have large quantities of very low density lipoprote

65 in fat biopsy samples from individuals with FCHL seemed to differ depending on their carrier status

66 hibited suggestive evidence for linkage with FCHL (LOD scores of 1.3-2.6).

67 continued to show evidence for linkage with FCHL, in the second stage of this design.

68 tients compared with 19% in controls without FCHL or FHTG and was associated with an odds ratio of 3.