Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease

Tycko, Benjamin; Feng, Lei; Nguyen, Lan Thi Ngoc; Francis, A.; Hays, Allison G.; Chung, Joanne W.Y.; Tang, Ming; Stern, Yaakov; Sahota, Amrik; Hendrie, Hugh C.; Mayeux, Richard

doi:10.1007/s004390050234

Cited by 64 publications

(40 citation statements)

References 35 publications

(29 reference statements)

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“…Hispanics from this country and other Caribbean nations may share some of their genetic background with individuals of African descent, which may partially explain the similarity in disease risk. [64][65][66] Because the proportion of African-American and Hispanic individuals living beyond age 65 years in the United States is increasing more rapidly than the proportion of white individuals, 67 it is imperative that this disparity in the rates of disease among the elderly be understood.…”

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confidence: 99%

Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan

Tang¹,

Cross²,

Andrews³

et al. 2001

Neurology

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Article abstract-Objective: To compare the incidence rates for AD among elderly African-American, Caribbean Hispanic, and white individuals and to determine whether coincident cerebrovascular disease contributes to the inconsistency in reported differences among ethnic groups. Methods: This was a population-based, longitudinal study over a 7-year period in the Washington Heights and Inwood communities of New York City. Annual incidence rates for AD were calculated and compared by ethnic group, and cumulative incidence adjusted for differences in education, diabetes, cardiovascular risk factors, and stroke was calculated. Results: The age-specific incidence rate for probable and possible AD was 1.3% (95% CI, 0.8 to 1.7) per person-year between the ages of 65 and 74 years, 4.0% (95% CI, 3.2 to 4.8) per person-year between ages 75 and 84 years, and 7.9% (95% CI, 5.5 to 10.5) per person-year for ages 85 and older. Compared to white individuals, the cumulative incidence of AD to age 90 years was increased twofold among African-American and Caribbean Hispanic individuals. Adjustment for differences in number of years of education, illiteracy, or a history of stroke, hypertension, heart disease, or diabetes did not change the disproportionate risks among the three ethnic groups. Conclusion: The incidence rate for AD was significantly higher among African-American and Caribbean Hispanic elderly individuals compared white individuals. The presence of clinically apparent cardiovascular or cerebrovascular disease did not contribute to the increased risk of disease. Because the proportion of African-American and Caribbean Hispanic individuals reaching ages 65 and older in the United States is increasing more rapidly than the proportion of white individuals, it is imperative that this disparity in health among the elderly be understood. NEUROLOGY 2001;56:49 -56 Prevalence and incidence rates for AD have been studied extensively throughout the world.1-20 Despite methodologic differences in these studies, most have shown a consistent rise in the frequency of AD with increasing age. Women appear to have a higher frequency of AD than men in some, but not all studies. 17,19,[21][22][23] Although the prevalence and incidence rates for dementia in Asia, China, Europe, and the United States are comparable, the types of dementia can vary. For example, the frequency of vascular dementia is reported to be higher than that of AD among East Asians 13 and JapaneseAmericans 18 compared with most populations in the United States and Europe.Only a few studies in the United States have compared the frequency of AD or other forms of dementia among major ethnic groups. No differences in the prevalence and incidence rates of AD were reported among African-American and white individuals in the Piedmont area of North Carolina participating in the Duke Established Populations for Epidemiologic Studies of the Elderly.5 However, Gurland et al. 8 reported a higher prevalence of all types of dementia, including AD, among African-American and Hispani...

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mentioning

confidence: 99%

Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan

Tang¹,

Cross²,

Andrews³

et al. 2001

Neurology

Self Cite

652

579

View full text Add to dashboard Cite

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“…Seven variants were discovered within the gene, including two non-synonymous changes, but none showed association with the disease in their sample set (Tycko et al 1996).…”

Section: Clumentioning

confidence: 99%

P2‐030: Investigating the Role of Clu, Picalm, and Cr1 in Alzheimer's Disease

Lord

Turton

Braae

et al. 2014

Alzheimer's & Dementia

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In 2009, two large genome wide association studies (GWAS) found associations between common single nucleotide polymorphisms (SNPs) at three loci (CLU, PICALM and CR1) and Alzheimer's disease (AD) risk. The causal variants underlying these associations and how these impact on AD susceptibility remain unclear. Target enrichment and next generation sequencing (NGS) were used to completely resequence the three associated loci in 96 AD patients in an attempt to uncover potentially causative and rare variants that may explain the observed association signals. A pipeline was developed for the handling of pooled NGS data following a comparison of several different combinations of programs. 33 exonic SNPs were found within the three genes, along with over 1000 non-coding variants. To identify the variants most likely to be affecting AD risk, a two pronged approach was adopted. The variants were imputed in a large case-control cohort (2067 cases, 7376 controls) to test for association with AD, and the likely functional consequences of the variants were assessed using in silico resources. Several of the analysed variants showed suggestive or significant association with AD in the imputed data, and/or were predicted to have consequences on the function or regulation of the genes, suggesting avenues for future research in AD genetics. The whole method of pooled, targeted NGS and prioritisation using imputed data for association testing and in silico resources for functional analysis represents a new strategy for tracking down the illusive causation of GWAS signals. PublicationsNext generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions. Lord J,

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“…Nine exons of the APOJ gene were divided into 4 sets and screened for genetic variants using heteroduplex analysis and single-strand conformation polymorphism (SSCP) with designated paired primers as previously published [20,25]. The primer sequences were as follows: exon 1(F) TCCGCGGCATTCTTTGGGC and exon 1(R) TGCCCGCCCATCCGTCCTG which generated a 210-bp product; exon 2(F): CGTGCAAAGACTCCAGAA and exon 2(R) TGGCCAGAGGAACATCAT which generated a 156-bp product; exon 3(F) CTCTTGCACTTCTCTTGC and exon 3(R) TCCAGTGGGATGGTCAAG which generated a 216-bp product; exon 4(F) AGCCTTGTGTCTTCCTGT and exon 4(R) GCATATTTCACTAGGCTC which generated a 258-bp product; exon 5(F) GAGCTTCTCCTAACTGTG and exon 5(R) AAAGGCCATGAGCTTCCA which generated a 478-bp product; exon 6(F) CTGGATGACTGACACTTC and exon 6(R) TCCATAAAGGCAGCACCA which generated a 229-bp product; exon 7(F) CTTCCCTTCACACTTCTC and exon 7(R) GACTTTAGCAGCTCGTTG which generated a 151-bp product; exon 8(F) CCACAGTGTTTCAGCTCT and exon 8(R) TTTTGTGGCTCCCAGAGA which generated a 278-bp product; exon 9(F) GGATGTTTTACTTTGGAGG and exon 9(R) AGAGGCTGGGCGGAGTTGG which generated a 190-bp product.…”

Section: Methodsmentioning

confidence: 99%

“…A number of studies have investigated polymorphisms in the LCAT gene [18], the gene-encoding lipoprotein lipase [19] and in the APOJ gene [20,21,22,23]. A study that enrolled Japanese female patients reported a relationship between a polymorphism of the APOJ gene and atherosclerosis [21].…”

Section: Introductionmentioning

confidence: 99%

“…Tycko et al [20] identified 7 nucleotide-sequence polymorphisms in the APOJ gene (in exons 2, 5 and 7 as well as introns 2 and 5) in patients with Alzheimer’s disease. Two exon 7 variants, codon 317 polymorphism (AhC substitution) and codon 328 polymorphism (GhA substitution), were seen more frequently in African-Americans than in Hispanics and were rare in Caucasians, suggesting that APOJ gene polymorphisms may be different in different ethnic populations [20]. …”

Section: Introductionmentioning

confidence: 99%

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Association of Apolipoprotein J Polymorphism 1598delT with Coronary Artery Disease and Lipoprotein Levels

et al. 2011

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Objectives: To investigate a polymorphism of the apolipoprotein J (APOJ) gene in relation to coronary artery disease (CAD) and lipid variables in a Chinese male population of genetically unrelated individuals. Methods: In this study, we recruited 126 control male subjects and 237 CAD male patients. CAD was defined as a fixed stenotic lesion with luminal narrowing ≧50% in at least one of the major or minor coronary arteries. In cases with documented myocardial infarction, only those rated as fully recovered for more than 3 months were enrolled. Patients with acute or chronic infectious diseases and those with malignancies were excluded. All subjects with a fasting serum triglyceride level higher than 300 mg/dl were likewise excluded. Results: We identified a single nucleotide polymorphism, 1598delT, and showed its association with CAD. Subjects with the I/I genotype showed a significantly higher CAD risk compared to those with the D/D genotype (OR 2.34, 95% CI 1.11–4.94, p = 0.026). Patients with the I/I genotype also had abnormal levels of high-density lipoprotein-cholesterol and low-density lipoprotein-cholesterol associated with CAD. Conclusions: Our data indicated that the APOJ single nucleotide polymorphism (1598delT) is associated with risk factors for CAD in a Chinese population.

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Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease

Cited by 64 publications

References 35 publications

Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan

Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan

P2‐030: Investigating the Role of Clu, Picalm, and Cr1 in Alzheimer's Disease

Association of Apolipoprotein J Polymorphism 1598delT with Coronary Artery Disease and Lipoprotein Levels

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