ABCMdb

PMID: 24959313

Coutinho CA, Marson FA, Marcelino AR, Bonadia LC, Carlin MP, Ribeiro AF, Ribeiro JD, Bertuzzo CS
TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.
Int J Mol Epidemiol Genet. 2014 May 29;5(2):87-99. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* Population characterization for the TNF-b1; and CFTR genotypes, Shwachman-Kulczycki and Kanga scores, transcutaneous oxygen saturation of hemoglobin and forced expiratory volume in the first second (%) (FEV1 ) of forced vital capacity Patient TNF-b1; genotype CFTR genotype Shwachman-Kulczycki Kanga Oxygen saturation FEV1 % -238G>A -308G>A MVG G/G G/A F508del/F508del Moderate Normal Normal Normal JPD G/G G/A F508del/F508del **** Normal Normal Mild RSR G/A A/A F508del/F508del Excellent Normal Mild Normal EVM G/G A/A F508del/R1162X Excellent Normal Mild Severe IFM G/G A/A F508del/F508del **** **** **** **** MLA G/G A/A F508del/F508del **** Exacerbate Normal Moderate VLPC G/G A/A F508del/F508del Moderate Normal Normal Normal MAB G/G A/A F508del/F508del Severe Exacerbate Mild Severe EVSMS G/G A/A F508del/F508del **** Normal Normal Mild YBK G/G A/A F508del/F508del Moderate Normal Normal Normal HB G/A A/A F508del/G542X **** Normal Severe Severe WSP G/G A/A F508del/G542X Moderate Normal Mild Severe DRG G/G A/A F508del/F508del **** **** **** **** BBK G/G G/A F508del/N1303K **** **** **** **** AO G/G A/A F508del/F508del **** Exacerbate Mild Mild LSM G/A A/A F508del/F508del Excellent Normal Normal Moderate VAL G/G A/A F508del/F508del Good Normal Mild Mild LFSA G/G A/A F508del/F508del **** Normal Mild Mild IBN G/G A/A F508del/R553X Excellent Normal Normal Normal CAQ G/G G/G F508del/G542X **** Normal Normal Mild MEMZ G/A A/A F508del/F508del **** Normal Normal Normal TMG G/G G/G F508del/F508del Moderate Normal Normal Normal JMGR G/G G/A F508del/N1303K **** Normal Normal **** MAP G/A G/G F508del/F508del **** **** **** **** AX G/G A/A F508del/F508del Good Normal Normal Normal LPOL G/G G/A F508del/N1303K Good Normal Normal **** EG G/G A/A F508del/R1162X Good Normal Normal Normal NCB G/G G/A F508del/R553X **** Normal Mild Severe FVV G/G A/A F508del/G542X Excellent Normal Normal Normal LSS G/G A/A F508del/F508del **** Exacerbate Moderate **** RNC G/G A/A F508del/F508del **** Normal Normal **** FEL G/G A/A F508del/G542X Moderate Normal Normal Moderate GOV G/G G/A F508del/F508del **** Normal Normal **** CVAR G/G A/A F508del/G542X **** Normal Normal **** EAG G/G A/A F508del/F508del **** Normal Mild **** AVM G/G G/G DF508/G542X Excellent Normal Normal Normal BSG G/G A/A G542X/R1162X Good Exacerbate Mild Mild GPNS G/A A/A F508del/F508del **** Normal Normal **** CAL G/G A/A DF508/G542X Good Normal Normal Normal MOS G/G G/G F508del/F508del Moderate Normal Normal **** FSC G/G A/A F508del/F508del Good Normal Normal Normal ITVS G/G G/A F508del/F508del **** Normal Normal Normal JRL G/G G/G F508del/F508del Mild Normal Normal **** GPT G/A A/A F508del/F508del Excellent Normal Normal Normal some patients were decolonized until the beginning of the study period, being not included in the statistical analysis. Login to comment 47 ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Arg1162* In data analysis, the FEV1 % mean was used for the classification of ASR G/A G/A F508del/R1162X **** **** **** **** VAF G/G A/A F508del/F508del **** Normal Normal **** IRO G/A G/G F508del/F508del **** Normal Normal **** BMSL G/G A/A R1162X/R1162X **** **** **** **** BSC G/A A/A F508del/F508del Moderate Normal Normal Mild ****: no data; CFTR = Cystic Fibrosis Transmembrane Regulator; TNF-b1; = tumor necrosis factor. Login to comment 69 ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* The F508del allele had the highest prevalence (79.59%), followed by G542X (9.18%), R1162X (6.12%), N1303K (3.06%) and R553X (2.04%). Login to comment