European Journal Of Medical Genetics, cilt.64, sa.4, ss.1-5, 2021 (SCI Expanded İndekslerine Giren Dergi)
We aim to identify new variants associated with RLS by performing genome-wide linkage and subsequent association analysis of forty member's family with history of RLS.
We found evidence of linkage for three loci 7q21.11 (HLOD = 3.02), 7q21.13-7q21.3 (HLOD = 3.02) and 7q22.3 (HLOD = 3.09). Fine-mapping of those regions in association study using exome sequencing identified SEMA3A (p-value = 8.5·10−4), PPP1R9A (p-value = 7.2·10−4), PUS7 (p-value = 8.7·10−4), CDHR3 (p-value = 7.2·10−4), HBP1 (p-value = 1.5·10−4) and COG5 (p-value = 1.5·10−4) genes with p-values below significance threshold.
Linkage analysis with subsequent association study of exome variants identified six new genes associated with RLS mapped on 7q21 and q22.