However, in one male, CC
homozygote was identified in more advanced tumor than in female tumors, and therefore, in the male subgroup, a significant negative correlation with cT (p=0.004) was observed.
Genetic analysis for the familial Mediterranean fever gene (MEFV) revealed a
homozygote mutation for M694V.
The purpose of this study was to investigate the impact of CYP3A4*1G polymorphism including wild-type
homozygote (CYP3A4*1/*1, GG), mutant heterozygote (CYP3A4*1/*1G, GA), and mutant
homozygote (CYP3A4*1G/*1G, AA) on fentanyl analgesia in Chinese patients undergoing hysteroscopy by the assessment of analgesia nociception index (ANI).
The frequency of wild-type,
homozygote, and
homozygote genotypes among the studied groups was 42.7%, 43.6%, and 13.6% in the CAD group; and 54.5%, 40.9%, and 4.5% in the control group [Table 2].
The results of PCR process in case and control groups were then evaluated and all the subjects were divided into three genotype groups: heterozygote with two PCR bands for S and L alleles (LS),
homozygote with one PCR band for S alleles (SS), and
homozygote with one PCR band for L alleles (LL).
The pooled ORs were performed for allelic comparison (miR196a2: T versus C, miR146a: C versus G, and miR499: G versus A),
homozygote model (miR196a2: TT versus CC, miR146a: CC versus GG, and miR499: GG versus AA), heterozygote model (miR196a2: TC versus CC, miR146a: CG versus GG, and miR499: GA versus AA), dominant model (miR196a2: TT + TC versus CC, miR146a: CC + CG versus GG, and miR499: GG + GA versus AA), and recessive model (miR196a2: TT versus TC+CC, miR146a: CC versus CG + GG, and miR499: GG versus GA + AA).
Table 1 Reference # Year of Donor publication [5] 1999 C282Y
homozygote liver & intestine [6] 2003 C282Y heterozygote liver [7] 2009 C282Y
homozygote liver [4] 2011 C282Y
homozygote liver Present 2016 C282Y/H63D compound case heterozygote Reference # Recipient Reason for transplant [5] Non-HH Cholestatic liver disease & short bowel syndrome [6] new missense Alcoholic cirrhosis mutation R6S [7] H63D heterozygote HBV+HCV +ethanol [4] Non-HH Fulminant HBV reactivation Present Non-HH PSC and Crohn's disease case Reference # Time from OLT to Outcome HH development (months) [5] 21 Biochemical abnormalities consistent with HH [6] 49 Treated with phlebotomy [7] 60 Died due to lung cancer [4] 24 Treated with phlebotomy Present 18 Planned for phlebotomy case
FMF is known as an autosomal recessive hereditary disease with different clinical presentation due to type of mutation, i.e.,
homozygote or heterozygote pattern.
In the overall analysis, a significant association was found in
homozygote comparison and recessive models (CC versus TT: OR = 0.67, 95% CI: 0.48-0.93, [P.sub.Z] = 0.02; CC versus CT + TT: OR = 0.80, 95% CI: 0.66-0.95, [P.sub.Z] = 0.01).
Two comparisons were of interest: wild-type vs
homozygote and wild-type vs heterozygote.