ABCMdb

PMID: 17192492

Qu HQ, Lu Y, Marchand L, Bacot F, Frechette R, Tessier MC, Montpetit A, Polychronakos C
Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes.
Diabetes. 2007 Jan;56(1):270-5., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCB2 p.Ile379Val ABCB2 p.Ile379Val TABLE 1 Transmission disequilibrium tests of the TAP2 SNPs SNP ID Position Minor allele (frequency) Hardy-Weinberg P Allele transmission counts (overtransmitted allele) ␹2 (P value) OR (95% CI)* rs2071552 (C/T) 5Ј UTR T (0.495) 0.395 431:279 (C) 32.5 (1.17 ϫ 10-8 ) 0.65 (0.56-0.75) rs1800454 (A/G) Exon 6 (I379V) A (0.100) 0.431 155:72 (G) 30.3 (3.61 ϫ 10-8 ) 0.47 (0.35-0.62) rs2228396 (A/G) Exon 10 (T565A) A (0.059) 1.000 61:46 (G) 2.1 (0.147) 0.75 (0.51-1.11) rs4148876 (C/T) Exon 12 (C651R) T (0.102) 1.000 163:79 (T) 29.2 (6.67 ϫ 10-8 ) 2.06 (1.58-2.70) rs241447 (A/G) Exon 12 (A665T) G (0.213) 0.190 332:143 (A) 75.2 (4.25 ϫ 10-18 ) 0.43 (0.35-0.52) rs241448 (C/T) Exon 12 (Q687Ter) C (0.215) 0.190 329:147 (T) 69.6 (7.31 ϫ 10-17 ) 0.45 (0.37-0.54) *Odds ratio of minor allele. Login to comment 84 ABCB2 p.Ile379Val TABLE 1 Transmission disequilibrium tests of the TAP2 SNPs SNP ID Position Minor allele (frequency) Hardy-Weinberg P Allele transmission counts (overtransmitted allele) ই2 (P value) OR (95% CI)* rs2071552 (C/T) 5b18; UTR T (0.495) 0.395 431:279 (C) 32.5 (1.17 afb; 10afa;8 ) 0.65 (0.56-0.75) rs1800454 (A/G) Exon 6 (I379V) A (0.100) 0.431 155:72 (G) 30.3 (3.61 afb; 10afa;8 ) 0.47 (0.35-0.62) rs2228396 (A/G) Exon 10 (T565A) A (0.059) 1.000 61:46 (G) 2.1 (0.147) 0.75 (0.51-1.11) rs4148876 (C/T) Exon 12 (C651R) T (0.102) 1.000 163:79 (T) 29.2 (6.67 afb; 10afa;8 ) 2.06 (1.58-2.70) rs241447 (A/G) Exon 12 (A665T) G (0.213) 0.190 332:143 (A) 75.2 (4.25 afb; 10afa;18 ) 0.43 (0.35-0.52) rs241448 (C/T) Exon 12 (Q687Ter) C (0.215) 0.190 329:147 (T) 69.6 (7.31 afb; 10afa;17 ) 0.45 (0.37-0.54) *Odds ratio of minor allele. Login to comment