ABCMdb

ABCA1 p.Lys1587Arg

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Publications

PMID: 22929031 [PubMed] Lanthaler B et al: "Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations."

No. Sentence Comment

40 These positions correspond to amino-acid residues 112 and 158 of the previous nomenclature.31 SNP genotyping for variants in the genes ABCA1 (NP_005493.2: p.Lys1587Arg; minor allele count: A ¼ 0.4113/900), LCAT (NP_001898.1: p.His173Arg), CETP (NP_000069.2: p.Val422Ile), LDLR, ApoC-III, and MTHFR (NP_005948.3: p.Ala222Val) was performed with the ABI SDS 7000 probes and primers that are part of predesigned assays from Applied Biosystems, Carlsbad, CA, USA (TaqMan SNP Genotyping Assays) (Table 1). Login to comment
47 RESULTS Description of SLOS patients The patients in the first study group were diagnosed by quantification of sterols using gas chromatography and mass spectrometry as mentioned.13 Phenoytpe severity was characterised by the scoring system mentioned earlier.2 The number of persons analysed in the association studies varied depending on availability of variables Table 1 Variants used for association study in SLOS patients Gene reference sequence SNP ref. TaqMan SNP genotyping assay Presumed consequence of SNP MTHFR NM_005957.4 p.Ala222Val rs1801133 C_1202883 Induces increased enzyme activity, significantly increased in mothers of children with cleft lip and cleft palate15-17 LCAT NM_001907.2 p.His173Arg rs2301246 C_8731782 Esterification of extracellular cholesterol in HDL leads to decrease of plasma HDL-cholesterol18 ApoC-III NM_000040.1 c.340G4C rs5128 C_8907537 Association with LDL- and HDL-cholesterol and ApoA-I concentrations in cord blood19 ABCA1 NM_005502.3 p.Lys1587Arg rs2230808 C_2741104 Lys1587 is associated with decreased plasma HDL- and LDL-cholesterol mainly in women20-22 CETP NM_000078.2 p.Val422Ile rs5882 C_790057 Influences the CETP expression, Ile422 is associated with low CETP and high HDL-cholesterol14 (concentrations of relevant metabolites cholesterol, 7-dehydrocholesterol, and 8-dehydrocholesterol, genotypes for patients and parents). Login to comment

PMID: 17510949 [PubMed] Chu LW et al: "A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer's disease in Chinese."

No. Sentence Comment

133 SNP18 (R219K) is in an N-terminal extracellular loop which possibly mediates ABCA1 interaction with ApoAI; while SNP10 (K1587R) is located in the regulatory segment 2 of the protein [Fitzgerald et al., 2002; Frikke-Schmidt et al., 2004]. Login to comment

PMID: 16704350 [PubMed] Brunham LR et al: "Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis."

No. Sentence Comment

605 Many of these variants have been studied in relationship to their association with HDL cholesterol levels and atherosclerosis (11, 15, 22, 27, 28, 38, TABLE 4 Nonsynonymous single-nucleotide polymorphisms (SNPs) in ABCA1 SNP id Nucleotidea Amino acidb Observed heterozygosity rs2230806 G969A R219K 0.488 rs9282541 C1001T R230C 0.029 rs9282543 T1509C V399A 0.020 rs4131108 A1556C M415L - rs13306068 A1949G I546V - rs2066718 G2624A V771M 0.074 rs2472458 G2804A D831N - rs4149313 A2962G I883M - rs2482437 C3326T E1005K - rs13306072 G3473A V1054I - rs13306073 G3599A V1096I - rs1997618 T4977C I1555T - rs2230808 A5073G K1587R 0.480 rs1883024 T5256C L1648P - - C5505G S1731C - a Nucleotide position is with respect to NM 005502. b Amino acid position is with respect to NP 005493. Login to comment

PMID: 23111454 [PubMed] Wang XF et al: "Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease."

No. Sentence Comment

86 The two conservative, non-synonymous coding polymorphisms (K1587R and R219 K) had been extensively investigated because of their potentially, functionally Table 2 Meta-analysis of the ABCA1 polymorphisms on Alzheimer`s disease risk Polymorphism Overall association Sub-group analysis by ethnicity Sub-group analysis by sample size Caucasian Asian C300 \300 R219 K OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) K allele 1.01 (0.93-1.10) P = 0.05 1.04 (0.96-1.14) P = 0.18 0.86 (0.62-1.18) P = 0.06 1.03 (0.91-1.17) P = 0.05 0.98 (0.85-1.14) P = 0.10 Dominant 1.05 (0.94-1.16) P = 0.14 1.08 (0.98-1.17) P = 0.40 0.86 (0.55-1.35) P = 0.07 1.08 (0.95-1.23) P = 0.19 0.99 (0.83-1.19) P = 0.17 Recessive 0.93 (0.78-1.10) P = 0.22 0.98 (0.81-1.18) P = 0.25 0.74 (0.51-1.07) P = 0.34 0.92 (0.70-1.20) P = 0.09 0.92 (0.72-1.18) P = 0.41 I883 M M allele 1.10 (0.96-1.26) P = 0.36 1.13 (0.97-1.31) P = 0.32 0.95 (0.65-1.39) NA 1.18 (0.90-1.55) P = 0.09 1.07 (0.88-1.30) P = 0.81 Dominant 1.13 (0.95-1.33) P = 0.34 1.14 (0.96-1.36) P = 0.28 0.85 (0.36-1.99) NA 1.19 (0.87-1.64) P = 0.06 1.11 (0.86-1.44) P = 0.90 Recessive 1.13 (0.80-1.58) P = 0.70 1.29 (0.81-2.04) P = 0.68 0.97 (0.59-1.59) NA 1.42 (0.75-2.67) P = 0.55 1.03 (0.69-1.54) P = 0.60 R1587 K K allele 1.08 (0.96-1.23) P = 0.06 1.05 (0.92-1.20) P = 0.09 1.31 (0.98-1.74) P = 0.23 1.01 (0.88-1.16) P = 0.17 1.23 (1.02-1.50) P = 0.19 Dominant 1.11 (0.93-1.33) P = 0.01 1.08 (0.89-1.32) P = 0.008 1.32 (0.91-1.92) P = 0.36 1.01 (0.80-1.27) P = 0.02 1.28 (0.97-1.68) P = 0.14 Recessive 1.15 (0.93-1.43) P = 0.44 1.04 (0.81-1.33) P = 0.73 1.64 (0.91-2.94) P = 0.19 1.00 (0.76-1.32) P = 0.44 1.43 (1.01-2.03) P = 0.61 NA not available Fig. 3 Forest plot from the meta-analysis of Alzheimer`s disease risk and ABCA1 R1587 K polymorphism important location in the gene. Login to comment
87 R219 K is in an N-terminal extracellular loop which possibly mediates ABCA1 interaction with ApoAI; while K1587R is located in the regulatory segment 2 of the protein [27, 28]. Login to comment