Review Article
Genetics of Keratoconus: Where Do We Stand?
Table 1
Loci identified in keratoconus patients by linkage analysis and identity-by-descent approach.
| Locus | LOD score | Candidate genes excluded‡ | Population | Reference |
| 1p36, 8q13-q21 | 3.4 | ENO1, CTNNBIP1, PLOD1, UBIAD1, SPSB1, and TCEB1 | Australian | [18] | 2p24 | 5.13 | — | Caucasian and Arab | [40] | 3p14-q13 | 3.09 | COL8A1 | Italian | [43] | 4q, 5q, 12p, and 14q (suggestive) | — | — | Caucasian and Hispanic | [41] | 5q14.1-q21.3 | 3.53 | — | Americans | [39] | 5q21, 5q32-q33, and 14q11 (suggestive) | — | — | Italian | [24] | 9p34 | 4.5 | — | Caucasian and Hispanic | [41] | 14q24.3 | 3.58 | VSX2 | Mixed | [42] | 16q22-q23 | 4.1 | — | Finnish | [23] | 20q12† | — | MMP9 | Australian (UK descent) | [38] |
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Mapped using identity-by-descent approach. No mutations were found in these screened candidate genes.
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