Prevalence of familial hypercholesterolemia in Johannesburg Jews

Seftel, H. C.; Baker, S G; Jenkins, Trefor; Mendelsohn, D

doi:10.1002/ajmg.1320340418

Cited by 55 publications

(34 citation statements)

References 4 publications

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“…A frequency of FH ranging from 1/411 (0.24%) for North Karelians of Finland [24] to 1/67 (1.5%) for Ashkenazi Jew in South Africa [25]. The frequency of FH is 1/900 (0.11%) for Japanese in Asia [26].…”

Section: Discussionmentioning

confidence: 98%

Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia

et al. 2011

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused mainly by mutations in the low-density lipoprotein receptor (LDLR) and apolipoprotein B 100 (APOB) genes. Until now, the molecular basis of FH has been demonstrated in detail in many populations, but there is still very limited Molecular data concerning FH in Iran. The aim of this study was to characterize the LDLR and APOB gene mutations in an Iranian population. A total of 30 non-related Iranian possible FH subjects were studied. Diagnosis of FH was based on the Dutch Lipid Clinic Network diagnostic criteria. All samples were initially tested for three common APOB gene mutations including R3500Q, R3500 W and R3531C using PCR-RFLP assay. Subsequently, promoter and coding region of the LDLR gene was screened by PCR-SSCP analysis and positive results were confirmed by DNA sequencing. Four previously reported polymorphisms 1413G [ A, 1725C [ T, 1773T [ C and 2140 ? 5G [ A were found in *17% (5/30) of population studied.Moreover, no variation was found in APOB gene. Our data indicated that LDLR and APOB gene mutations have not contribution to possible FH in Iranian population studied here. However, we examined three common APOB mutations and LDLR in only 30 patients, and to determine the role of these genes in developing FH in Iran, more FH samples and populations needed to be investigated for the mutations of the related genes.

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Section: Discussionmentioning

confidence: 98%

Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia

et al. 2011

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“…In ADH cohorts, mutation detection rates vary - as high as 90% in ethnically homogenous populations (4-8) and as low as 40% in our ongoing study of ADH in a multiethnic US cohort (9). For the 10-60% of ADH patients without detectable causal mutations (unexplained), a few differences have been reported when compared with FH patients: unexplained ADH patients have lower baseline LDL-C levels, higher high density lipoproteincholesterol (HDL-C) levels, and lower prevalence of tendon xanthomas (6,9-14).…”

Section: Introductionmentioning

confidence: 93%

Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations

Ahmad

Wosik

et al. 2016

Journal of Clinical Lipidology

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Background For patients with autosomal dominant hypercholesterolemia (ADH), it remains unclear whether differences exist in the risk of premature coronary heart disease (CHD) between patients with confirmed mutations in low-density lipoprotein receptor (LDLR) vs those without detectable mutations. Objective This study sought to assess the risk of premature CHD in ADH patients with mutations in LDLR (referred to as Familial Hypercholesterolemia, FH) vs those without detectable mutations (unexplained ADH), stratified by sex. Methods Comparative study of premature CHD in a multiethnic cohort of 111 men and 165 women meeting adult Simon-Broome criteria for ADH. Results Women with FH (n = 51) had an increased risk of premature CHD compared to unexplained ADH women (n = 111) (hazard ratio [HR] 2.74 [95% CI: 1.40, 5.34], p = 0.003) even after adjustment for lipid levels and traditional CHD risk factors (HR 2.53 [1.10, 5.83], p = 0.005). Men with FH (n = 42), in contrast, had a similar risk of premature CHD when compared to unexplained ADH men (n = 66) (unadjusted: HR 1.48 [0.84, 2.63], p = 0.18; adjusted: HR 1.04 [0.46, 2.37] p = 0.72). To address whether mutation status provides additional information beyond LDL-C level, we analyzed premature CHD risk for FH vs unexplained ADH at each quartile of LDL-C: the findings were significant for women (Q1: HR 4.90 [1.69-14.19]; Q2: HR 3.44 [1.42-8.32]; Q3: HR 2.79 [1.25-6.23]; Q4: HR 1.99 [0.95-4.17]), but not for men. Conclusion Our findings suggest that genetic confirmation of ADH may be important to identify patient's risk of CHD, especially for female LDLR mutation carriers.

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“…A nationwide FH screening program among patients who were referred to the molecular diagnostic laboratory of the Academic Medical Center in the Netherlands reported that the frequency of HoFH was 1/300,000 based on a genetic test, and the calculated frequency of HeFH was 1/244 12) . Higher heterozygous frequencies ranging from 1/400 to 1/67 were also found in the Finns, French Canadians, Indians in South Africa, Christian Lebanese, and Afrikaners in South Africa, which may result from the founder effect [13][14][15][16][17][18][19] . Increasing efforts have been focused on early detection and earlier treatment of FH patients worldwide.…”

Section: Frequency Of Fh In Asian Populationsmentioning

confidence: 99%

Familial Hypercholesterolemia in Asian Populations

Zhou

Zhao

2016

J Atheroscler Thromb

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Familial hypercholesterolemia (FH) is the most common autosomal disorder characterized by an elevated low-density lipoprotein-cholesterol level and a high risk of premature cardiovascular disease. In this review, we summarize information on FH studies in Asian countries, focusing on mean cholesterol level, FH frequency, diagnostic criteria, genotypes, and clinical care of FH patients in Asian populations. Compared with Western countries, most Asian countries had lower mean cholesterol levels, with a significant variation between different countries. In the limited studies reported, a frequency of 1/900 was reported in Hokuriku district, Japan in 1977 and a frequency of 1/85 among Christian Lebanese in 1979. Recently, a population study in China reported frequencies of 0.47% and 0.28%. However, the different FH frequencies reported were based on different diagnostic criteria. Of 28 publications from 16 Asian countries or regions, 14 used self-defined FH criteria. Only one specific guideline for FH was available, which was developed by Japanese scientists. Six Asian countries joined the Make Early Diagnosis to Prevent Early Deaths program in the late 1990s, and the estimated diagnosis rates of FH ranged from 3% to 10% in these countries. A more recent study explored the awareness, knowledge, and perception of FH among practitioners in Japan, Korea, and Taiwan. The study found that the correct rates of these FH-related questions were low and concluded that lack of country-specific criteria and guidelines may contribute to the lack of FH knowledge in the present survey. More attention and resources should be focused on raising awareness, improving care, and increasing FH research in Asian populations. J Atheroscler Thromb, 2016; 23: 539-549.

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Prevalence of familial hypercholesterolemia in Johannesburg Jews

Cited by 55 publications

References 4 publications

Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia

Molecular Characterization of Iranian Patients with Possible Familial Hypercholesterolemia

Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations

Familial Hypercholesterolemia in Asian Populations

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