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. 2015 Mar-Apr;26(2 H3Africa Suppl):S39–S49. doi: 10.5830/CVJA-2015-039

Table 1. Genetic linkage studies in stroke.

First author (year) Study type Phenotype Sample Salient findings
Craig et al. (1998)74 Linkage analysis Cerebral cavernous malformation 20 non-Hispanic Caucasian families CCM – 1(7q) (found in Hispanic Americans), CCM2 (7p13-15) and CCM3 at 3q25.2-27 all found in non-Hispanic Caucasian families.
Nilsson-Ardnor et al. (2007)76 Genome-wide linkage analysis All strokes; ischaemic stroke 56 Swedish families with familial stroke LOD scores > 1.2 at 9 1ocations: 1p34, 5q13, 7q35, 9q22, 9q34, 13q32, 14q32, 18p11, and moderate linkage on chromosomes 5q, 9q, 13q, and 18p.
Additional 53 families with familial strokes Analysis of 53 additional families, further confirmed linkage on chromosomes 5q, 13q, and 18p.
Janunger et al. (2009)75 Genome-wide linkage analysis All strokes 7 nuclear Swedish families with a common ancestor and connected over 8 generations A maximum allele-sharing LOD score of 4.81 on chromosome 9q31-q33 was detected. Haplotype analysis identified a region for intracerebral haemorrhage.
Wang et al. (2014)77 Linkage and association analysis Ischaemic stroke 227 Chinese families with ischaemic stroke SNP rs1800798 in the IL-8 gene is signficantly linked to ischaemic stroke (p = 0.002) and small arterial occlusion (small-vessel disease) (p = 0.022).