A recent GWAS found a significant association between CTS and rs3791679, an intronic SNP that resides within an enhancer region of EFEMP1. Of the several genetic variants found to associate with CTS, many (including the EFEMP1 locus) were relatively enriched in gene sets relating to ECM biology, and to anthropometric traits with which EFEMP1 has previously been linked, namely, waist circumference [83] and height [76], suggesting there is a significant component of CTS pathology centered in ECM biology [104]. The gene discussed is EFEMP1; the disease is carpal tunnel syndrome.