Genetic Heritability of a Shallow Anterior Chamber in Chinese Families with Primary Angle Closure Glaucoma
Authors:
Yun Shu Tu -
a;
Zheng Qin Yin -
a;
Hui Min Pen b;
Chang Ming Yuan c
| Affiliations: | a Southwest Eye Hospital/Southwest Hospital, Third Military Medical University, Chongqing, China |
| b Department of Biology, Chongqing University of Medical Science, Chongqing, China | |
| c Chongqing Medical Emergency Center, Chongqing, China |
DOI:
10.1080/13816810802324532
Publication Frequency:
4 issues per year
Subjects:
Genetics;
Ophthalmology;
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Abstract
Purpose: To explore the genetic heritability of a shallow anterior chamber (AC) in families with primary angle closure glaucoma (PACG) and to provide a theoretical basis for the identification of candidate genes responsible for PACG. Methods: Genetic analyses included familial and segregation analysis, tests for multifactorial inheritance and thresholds. The data was used to determine heritability. The relative risk rate and the possible genetic pattern of a shallow AC were examined in 114 pedigrees with PACG probands. Results: The estimated heritability value of a familial shallow AC was 92.6% ± 5.9%; the relative risk rate of a shallow AC was 7.91. The rate of affected female siblings to affected males was 2.87:1, which was statistically higher than that of affected male siblings (χ2 = 9.75, P < 0.01). In two different mating types, the segregation ratios of U
U (parents unaffected) and U A (one parent affected) were 0.11 and 0.426 respectively. The result of segregation analyses suggested that the genetic pattern of U U did not possess the characteristics of a monogenetic model and the genetic pattern of U A exhibited autosomal dominant inheritance traits. Conclusions: We have shown that there is a higher heritability and a higher relative risk rate in the Chinese population of familial shallow ACs. The inheritance of a shallow AC may be a genetically heterogeneous trait and influenced by gender with autosomal dominant inheritance in subgroups. These results provide a theoretical basis for the identification of candidate genes responsible for Chinese PACG.
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| Keywords: Probands; familial analysis; segregation analysis; multifactorial inheritance; relative risk; sex-influenced |
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U (parents unaffected) and U
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