[12] Therefore, rs56113850 was initially left out from this analysis but included again in the group of analysed markers as it is located in an enhancer region for the GARD gene LTBP4 (e.g. associated with cutis laxa with severe lung abnormalities, ORPHA code 221145, OMIM no. 613177). Here, LTBP4 is linked to cutis laxa.