The heritability and sibling risk of angle closure in Asians

Abstract

Purpose: To describe the heritability and sibling risk for angle closure.

Design: Prospective clinical study.

Participants: Probands with primary angle closure (PAC) and primary angle-closure glaucoma (PACG) and their first-degree relatives.

Methods: One hundred probands with PAC and PACG and their first-degree relatives were examined prospectively. All subjects underwent an ophthalmic evaluation that included slit-lamp examination, optic disc evaluation, and gonioscopy. An angle was classified as narrow if the posterior (usually pigmented) trabecular meshwork could be seen for less than 180° of the angle circumference. The heritability of narrow angles was calculated by threshold models. The sibling recurrence and relative risk of having narrow angles compared with the general population was calculated using estimation of sibling genetic risk parameters, corrected for single ascertainment bias.

Main outcome measures: Heritability and sibling risk for narrow angles.

Results: One hundred probands (consisting of 76 subjects with PACG and 24 with PAC) were examined together with 327 first-degree relatives. There were 76 female probands and 24 male probands. Of the first-degree relatives, 146 were male and 181 were female. Of the 327 first-degree relatives, 105 (32.1%) had narrow angles. The heritability of narrow angles was 58.8% overall, with the genetic variance being 2.30 and the phenotypic variance being 3.91. Of the 515 sibling pairs examined, 171 (33.1%) pairs had both siblings unaffected, 113 (21.9%) pairs had both siblings affected, 231 (45.0%) pairs had 1 sibling affected. The sibling recurrence risk for having narrow angles was 49% (95% confidence interval, 41.6%-56.8%), whereas the sibling relative risk for narrow angles was 7.57 (95% confidence interval, 6.41-8.74).

Conclusions: A high heritability of narrow angles of almost 60% was found. Siblings of Chinese patients with PAC or PACG have almost a 50% probability of having narrow angles and are more than 7 times more likely to have narrow angles than the general population.