ABCMdb

ABCA1 p.Tyr2178His

Predicted by SNAP2:	A: D (66%), C: D (59%), D: D (75%), E: D (75%), F: N (72%), G: D (80%), H: D (75%), I: D (59%), K: D (75%), L: D (53%), M: D (66%), N: D (75%), P: D (80%), Q: D (75%), R: D (80%), S: D (71%), T: D (71%), V: D (53%), W: D (75%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D,

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[hide] Genotypic variation in ATP-binding cassette transp... Transl Res. 2007 Apr;149(4):205-10. Mantaring M, Rhyne J, Ho Hong S, Miller M
Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype.
Transl Res. 2007 Apr;149(4):205-10., [PMID:17383594]

Abstract [show]
The ATP-binding cassette transporter-1 (ABCA1) mediates cholesterol efflux and genotypic variation in ABCA1 and may impact reverse cholesterol transport and influence cardiovascular disease (CVD) risk. However, although mutations in ABCA1 have generally been identified with low HDL-C, few have undertaken a comparative evaluation between high and low high-density lipoprotein-cholesterol (HDL-C). Therefore, to evaluate for potential gain-of-function polymorphisms/mutations in ABCA1, 56 consecutive subjects were screened presenting with high (60-99 mg/dL [1.6-2.6 mmol/L]) or very high HDL-C (>100 mg/dL [2.6 mmol/L]) and were compared with subjects with average or low HDL-C (n = 68). Carrier frequencies of common ABCA1 polymorphisms, R219K, V771M, V825I, I883M, E1172D, and R1587K were also assessed. All 50 exons and exon-intron boundaries of ABCA1 were screened using single-stranded conformation polymorphism (SSCP). DNA samples with SSCP-shifts or differing band patterns were sequenced. For the 6 common polymorphisms, genotyping was determined by polymerase chain reaction (PCR)-restriction fragment length polymorphism. Overall, 5 novel nonsynonymous mutations were identified, all of which were associated with low HDL-C. Of the 6 common ABCA1 polymorphisms, very high HDL-C was associated with a higher genotype frequency for R219K (P(trend) = 0.04) and higher genotype and allelic frequency for E1172D (P(trend) = 0.0004, P(trend) = 0.0002, respectively) compared with lower HDL-C. These data reaffirm that rare mutations in ABCA1 are associated with low HDL-C. However, at least 1 ABCA1 polymorphism (eg, E1172D) may contribute to the high HDL-C phenotype.

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62 According to the third National Health and Nutrition Examination Survey (NHANES III) (n ϭ 17,000), the prevalence of HDL-C Ͼ 100 mg/dL (0.85%) is similar to that of very low HDL-C (eg, Ͻ20 mg/dL).20 Complete screening of ABCA1 disclosed 5 mutations (E868K, Q1279K, G1421X, R1925Q, and Y2178H) that, to the authors` knowledge,3,4 have not been previously reported. Login to comment
68 Novel ABCA1 mutations and associated clinical characteristics Mutation Gender YOB HDL-C† CVD Risk factors E868K Male* 1936 37 ϩ Diabetes Q1279K Male 1949 37 ϩ MetS G1421X Female 1942 32 ϩ Diabetes/Smoker R1925Q Male* 1931 23 ϩ MetS Y2178H Male 1955 36 ϩ Smoker Abbreviations: MetS, metabolic syndrome; YOB, year of birth. Login to comment
61 According to the third National Health and Nutrition Examination Survey (NHANES III) (n afd; 17,000), the prevalence of HDL-C b0e; 100 mg/dL (0.85%) is similar to that of very low HDL-C (eg, b0d;20 mg/dL).20 Complete screening of ABCA1 disclosed 5 mutations (E868K, Q1279K, G1421X, R1925Q, and Y2178H) that, to the authors` knowledge,3,4 have not been previously reported. Login to comment