For the language outcomes, rs1718101 shows modest, significant association with age-at-first-phrase, acting either additively or dominantly but not recessively; rs17236239 shows modest association with age-at-first-phrase under a recessive model (Table 5).
However, under a recessive model, individuals homozygous for the common G allele had a statistically significant 19% higher risk of T2D than carriers of the A allele (OR 1.19; 95% CI 1.07 1.33).
Affection status was weakly associated with rs6994992 genotypes and trended towards association under a recessive model.
We found that the rs4353229 polymorphism was associated with cervical cancer risk (under a recessive model: crude OR = 1.20, 95% CI = 1.02-1.40).
In the current study, we also showed that CXCL9-11 polymorphisms were also related to higher LSM values and higher odds of severity of liver fibrosis under a recessive model of inheritance.
In a recent article published by our group, we found that CXCL9 rs10336 AA, CXCL10 rs3921 CC and CXCL11 rs4619915 AA genotypes were related to higher likelihood of severity of liver fibrosis in HIV/HCV-coinfected patients under a recessive model [34].
A meta-analysis of more than 40.000 individuals showed that ENPP1 K121Q increases risk of type 2 diabetes under a recessive model; an effect that may be modulated by BMI [23].
In particular, the two latter SNPs appeared to exert a stronger predisposing effect under a recessive model, which withstood Bonferroni correction for multiple testing for rs324987 [p = 0.0044, OR = 0.674 (95% CI 0.512 0.888)].
The initial finding was validated in four out of five replication samples, involving a total of 9,881 individuals, with a combined odds ratio (OR) of 1.22 (1.05–1.42) under a recessive model [1].
The chromosome 3 peak produced a higher maximum hLOD score under a recessive model (4.652) than a dominant model (3.334), whereas the maximum hLOD score for the chromosome 9 peak was higher under the dominant model (3.883) than the recessive model (2.680).
We also analyzed the WES data under a recessive model.
