Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics

Liao, Yi‐Chu; Lin, Hsiu-Fen; Rundek, Tatjana; Cheng, Rong; Hsi, Edward; Sacco, Ralph L.; Juo, Suh Hang Hank

doi:10.1016/j.clinbiochem.2007.11.011

Cited by 17 publications

(15 citation statements)

References 35 publications

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“…We also found a mutation in the PCSK9 gene (rs11583680) that was described in Familial Hypercholesterolemia (FH) Variant Databases UCL (http://www.ucl.ac.uk/ldlr) as a benign polymorphism (Fasano et al, 2007). Three APOB gene variants found in our study group (rs1801701, rs1042031 and rs1801702) have been described by various authors as associated with different lipid traits and one as benign (rs1042034) (Liao et al, 2008;Makela et al, 2012;Calandra et al, 2011;Gaudreault et al, 2011).…”

Section: Resultssupporting

confidence: 67%

“…Another mutation (rs41291058) in LDLRAP1 gene had been linked to autosomal recessive FH (Garcia et al, 2001;Eden et al, 2002). Four mutations (rs1367117, rs679899, rs533617 and rs562556), located in the APOB and PCSK9 genes, in the HGMD database were reported to be associated with altered lipid levels or altered binding efficiency (Shioji et al, 2004;Humphries et al, 2006b;Liao et al, 2008;Makela et al, 2012;Calandra et al, 2011;Al-Waili et al, 2013). Another mutation (rs505151) in the PCSK9 gene was previously associated with atherosclerosis (Humphries et al, 2006b;Kotowski et al, 2006).…”

Section: Resultsmentioning

confidence: 99%

“…Unfortunately, because of the lack of information PolyPhen-2 was not able to predict effects for the other mutations. (Soria et al, 1989;Taylor et al, 2010;Chatzistefanidis et al, 2013) rs1801701 2 APOB Arg3638Gln C T 3 0 9,4 4.9 (Calandra et al, 2011) rs1042031 2 APOB Glu4181Lys C T 6 0 18,8 15.3 (Liao et al, 2008;Calandra et al, 2011;Gaudreault et al, 2011;Makela et al, 2012) (Eden et al, 2002) rs11591147 1 PCSK9 Arg46Leu G T 1 0 3,1 0.9 Coronary heart disease, reduced risk, association with (Benn et al, 2010;Cohen et al, 2004) rs11583680 1 PCSK9 Ala53Val C T 2 1 12,5 9.0 (Fasano et al, 2007) rs562556 1 PCSK9 Ile474Val A G 7 1 28.1 14.7 High LDL cholesterol, association with (Al-Waili et al, 2013;Humphries et al, 2006b;Shioji et al, 2004) rs505151 1 PCSK9 Glu670Gly A G 2 1 12.5 9.8 Atherosclerosis, severity, association with (Humphries et al, 2006b;Kotowski et al, 2006) Chr -chromosome; AA substitution -amino acid substitution; Ref. allele -nucleotide of reference allele (Hg19); Alt allele -nucleotide of alternative allele.…”

Section: Resultsmentioning

confidence: 99%

“…Four more common variants (rs1357117, rs679899, rs1042031, and rs562556) have been associated with increased LDL-C or altered APOB levels (Shioji et al, 2004;Humphries et al, 2006b;Liao et al, 2008;Calandra et al, 2011;Gaudreault et al, 2011;Makela et al, 2012;Al-Waili et al, 2013). There is no information available regarding their role in FH onset, but since there is an association with altered lipid levels and they have been detected in FH patients of various populations, it is possible that at least some Brought to you by | MIT Libraries Authenticated Download Date | 5/11/18 6:34 AM of them can influence the progression of disease, especially in combination with rare mutations.…”

Section: Discussionmentioning

confidence: 99%

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Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

Radovica

Bērziņs

Latkovskis

et al. 2015

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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Section: Resultssupporting

confidence: 67%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

Radovica

Bērziņs

Latkovskis

et al. 2015

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

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“…Although genetic predisposition has been suggested to be an important determinant of hyperlipidemia (Andreotti et al, 2009;Liao et al, 2008;Willer et al, 2008), genetic factors alone cannot explain the recent increase in prevalence of hyperlipidemia and CHD. Unhealthy living habits and an unbalanced diet have been identified as the most significant risk factors for development of hyperlipidemia and for which an intervention can be most effectively designed (Mohanna et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Prevalence and Determinants of Hyperlipidemia in Moderate Altitude Areas of the Yunnan-Kweichow Plateau in Southwestern China

Deng

Luo²,

Huang³

et al. 2012

High Altitude Medicine & Biology

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Deng, Bingjun, Tingguang Luo, Yanfei Huang, Tianhang Shen, Jing Ma. Prevalence and determinants of hyperlipidemia in moderate altitude areas of the Yunnan-Kweichow Plateau in Southwestern China. High Alt. Med. Biol. 13:13-21.-The objective of the current study was to determine the prevalence and determinants of hyperlipidemia among the populations living at moderate altitude on the Yunnan-Kweichow Plateau in Southwestern China. We randomly recruited 1415 people for this study. These subjects underwent a physical examination and a comprehensive questionnaire regarding their daily habits and diets. Furthermore, blood samples from the participants were collected for assessing the lipid profile. We found that 49.3% of participants (95% CI: 46.7-51.9%) suffered from hyperlipidemia. The prevalence in men was significantly higher than that in women (53.6% vs. 44.7%, p < 0.01). The prevalence of hypercholesterolemia was 23.3% and of hypertriglyceridemia was 34.1%. Low HDL-C showed a prevalence of 17.5% and high LDL-C of 9.0%. The prevalence of hyperlipidemia also increased with age, as did the prevalence of high TC, TG, and LDL-C. Hyperlipidemic subjects tended to be older and have a higher BMI and WHR than the normolipidemic subjects in the study cohort ( p < 0.05). The hyperlipidemic subjects, both men and women, tended to dine out often and consume more animal-based foods and alcohol. In addition, the hyperlipidemic men in our cohort consumed more salted food then their normolipidemic counterparts ( p < 0.01). Normolipidemic subjects of both sexes were also found to prefer a vegetarian diet ( p < 0.01). Age, alcohol consumption, a preference for meat and animal products, regular dining out, and BMI were found to be the main determinants of hyperlipidemia in women, whereas a prevalence of salted food was observed to be related to hyperlipidemia in men from the Yunnan-Kweichow Plateau subpopulation under study ( p < 0.05). The average daily energy, and protein and fat intakes of the sampled subjects were also higher than the levels set by the Chinese Recommendation Nutrient Intakes (RNI), while hyperlipidemic subjects had an even higher average daily intake of total fat, cholesterol, and lower dietary fiber compared with the normolipidemic subjects in the study group ( p < 0.05). In conclusion, this study reveals a higher prevalence of hyperlipidemia, hypercholesterolemia, hypertriglyceridemia, increased BMI and WHR values in men, as well as a slightly higher prevalence of low HDL-C and high LDL-C in women from YunnanKweichow Plateau. The incidence of hyperlipidemia also increased with age, as did the prevalence of an abnormal TC, TG, LDL-C, and WHR in our study cohort. A high BMI, and less healthy living habits and dietary preferences thus play significant roles in the onset of hyperlipidemia.

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Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes

Sánchez-Pozos¹,

Ortiz-López

Peña-Espinoza

et al. 2018

Mol Genet Genomics

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It has been presumed that increased susceptibility in Mexicans to type 2 diabetes (T2D) is attributed to the Native American genetic ancestry. Nonetheless, it is not known if there are private genetic variants that confer susceptibility to develop T2D in our population. The Maya indigenous group has the highest proportion of Native American ancestry (98%) which makes it a representative group of the original peoples of Mexico. Thus, the aim of the present study is to identify new genetic variants associated with T2D in Maya families. Whole-exome sequencing was performed on DNA samples from Maya families with a third-generation family history of T2D only in one parental line. Four variants were identified for APOB, PPP1R3A, TPPP2, and GPR1 genes, and were further tested for association with T2D in 600 unrelated Maya in a case-control study. For the first time, rs1799999 in PPP1R3A was associated with risk of T2D in Mayan Mexican individuals (OR = 1.625, P = 0.014). Interestingly, carriers of rs1799999 presented increased values of HOMA-IR. In addition, rs1801702 in APOB was associated with total cholesterol and LDL-C (P = 0.019 and P = 0.020, respectively) in normoglycemic individuals; rs3732083 in GPR1 with HOMA-IR (P = 0.016) and rs9624 in TPPP2 with total cholesterol and triglycerides (P = 0.002 and P = 0.005, respectively) in T2D subjects. Overall, these findings support the idea that there are other genetic variants yet to be described, involved in T2D development in Maya population, being insulin resistance and lipid metabolism the main mechanisms implicated. Thus, these results can contribute to the understanding of diabetes genetic background in Mexican population.

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Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics

Cited by 17 publications

References 35 publications

Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

Evaluation Of Massive Parallel Sequencing As A Diagnostic Tool For Familial Hypercholesterolemia

Prevalence and Determinants of Hyperlipidemia in Moderate Altitude Areas of the Yunnan-Kweichow Plateau in Southwestern China

Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes

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