, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma

English version České info

The anterior chamber is the space within the eye which is bound by the cornea, and the anterior surfaces of the iris and lens. Anterior chamber depth (ACD) is the distance measured along the eye's optical axis, from the cornea to the lens surface. ACD is an important risk factor for primary angle closure glaucoma (PACG), a major cause of irreversible blindness worldwide, and in particular, individuals of Asian ethnicity. In order to identify the genes that underlie PACG susceptibility, we conducted a two-staged study. We first conducted a large scale genetic study on a total of 5,308 population-based individuals of Asian descent to identify the genetic variants that influence ACD. This was followed by testing for associations between the identified genetic variant and PACG in another independent collection of 4,276 PACG cases and 18,801 controls. We found that a genetic variant within ABCC5 was associated with an increased risk of having PACG. Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants that influence the anterior chamber dimensions of the eye.

Vyšlo v časopise: , a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma. PLoS Genet 10(3): e32767. doi:10.1371/journal.pgen.1004089
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004089

Souhrn

Zdroje

1. FosterPJ, JohnsonGJ (2001) Glaucoma in China: how big is the problem? Br J Ophthalmol 85 : 1277–1282.

2. FosterPJ, BaasanhuJ, AlsbirkPH, MunkhbayarD, UranchimegD, et al. (1996) Glaucoma in Mongolia. A population-based survey in Hovsgol province, northern Mongolia. Arch Ophthalmol 114 : 1235–1241.

3. FosterPJ, OenFT, MachinD, NgTP, DevereuxJG, et al. (2000) The prevalence of glaucoma in Chinese residents of Singapore: a cross-sectional population survey of the Tanjong Pagar district. Arch Ophthalmol 118 : 1105–1111.

4. DandonaL, DandonaR, MandalP, SrinivasM, JohnRK, et al. (2000) Angle-closure glaucoma in an urban population in southern India. The Andhra Pradesh eye disease study. Ophthalmology 107 : 1710–1716.

5. QuigleyHA, BromanAT (2006) The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol 90 : 262–267.

6. VithanaEN, KhorCC, QiaoC, NongpiurME, GeorgeR, et al. (2012) Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet 44 : 1142–1146.

7. CohenJC, BoerwinkleE, MosleyTHJr, HobbsHH (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354 : 1264–1272.

8. KathiresanS (2008) Myocardial Infarction Genetics Consortium (2008) A PCSK9 missense variant associated with a reduced risk of early-onset myocardial infarction. N Engl J Med 358 : 2299–2300.

9. FosterPJ, DevereuxJG, AlsbirkPH, LeePS, UranchimegD, et al. (2000) Detection of gonioscopically occludable angles and primary angle closure glaucoma by estimation of limbal chamber depth in Asians: modified grading scheme. Br J Ophthalmol 84 : 186–192.

10. DevereuxJG, FosterPJ, BaasanhuJ, UranchimegD, LeePS, et al. (2000) Anterior chamber depth measurement as a screening tool for primary angle-closure glaucoma in an East Asian population. Arch Ophthalmol 118 : 257–263.

11. LavanyaR, WongTY, FriedmanDS, AungHT, AlfredT, et al. (2008) Determinants of angle closure in older Singaporeans. Arch Ophthalmol 126 : 686–691.

12. AungT, NolanWP, MachinD, SeahSK, BaasanhuJ, et al. (2005) Anterior chamber depth and the risk of primary angle closure in 2 East Asian populations. Arch Ophthalmol 123 : 527–532.

13. HeM, WangD, ZhengY, ZhangJ, YinQ, et al. (2008) Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study. Invest Ophthalmol Vis Sci 49 : 81–86.

14. LyhneN, SjølieAK, KyvikKO, GreenA (2001) The importance of genes and environment for ocular refraction and its determiners: a population based study among 20–45 year old twins. Br J Ophthalmol 85 : 1470–6.

15. HeM, HurYM, ZhangJ, DingX, HuangW, et al. (2008) Shared genetic determinant of axial length, anterior chamber depth, and angle opening distance: the Guangzhou Twin Eye Study. Invest Ophthalmol Vis Sci 49 : 4790–4794.

16. McAteerJB, PrudenteS, BacciS, LyonHN, HirschhornJN, et al. (2008) ENPP1 Consortium (2008) The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects. Diabetes 57 : 1125–1130.

17. HeM, FosterPJ, GeJ, HuangW, ZhengY, et al. (2006) Prevalence and clinical characteristics of glaucoma in adult Chinese: a population-based study in Liwan District, Guangzhou. Invest Ophthalmol Vis Sci 47 : 2782–2788.

18. NongpiurME, WeiX, XuL, PereraSA, WuRY, et al. (2013) Lack of association between primary angle-closure glaucoma susceptibility Loci and the ocular biometric parameters anterior chamber depth and axial length. Invest Ophthalmol Vis Sci 54 : 5824–5828.

19. JedlitschkyG, BurchellB, KepplerD (2000) The multidrug resistance protein 5 functions as an ATP-dependent export pump for cyclic nucleotides. J Biol Chem 275 : 30069–30074.

20. WijnholdsJ, MolCA, van DeemterL, de HaasM, SchefferGL, et al. (2000) Multidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogs. Proc Natl Acad Sci U S A 97 : 7476–7481.

21. PrattS, ShepardRL, KandasamyRA, JohnstonPA, PerryW, et al. (2005) The multidrug resistance protein 5 (ABCC5) confers resistance to 5-fluorouracil and transports its monophosphorylated metabolites. Mol Cancer Ther 4 : 855–863.

22. KarlaPK, QuinnTL, HerndonBL, ThomasP, PalD, et al. (2009) Expression of multidrug resistance associated protein 5 (MRP5) on cornea and its role in drug efflux. J Ocul Pharmacol Ther 25 : 121–132.

23. StojicJ, StohrH, WeberBH (2007) Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression. BMC Mol Biol 8 : 42.

24. LongY, LiQ, LiJ, CuiZ (2011) Molecular analysis, developmental function and heavy metal-induced expression of ABCC5 in zebrafish. Comp Biochem Physiol B Biochem Mol Biol 158 : 46–55.

25. de WolfCJ, YamaguchiH, van der HeijdenI, WielingaPR, HundscheidSL, et al. (2007) cGMP transport by vesicles from human and mouse erythrocytes. FEBS J 274 : 439–450.

26. JonssonT, AtwalJK, SteinbergS, SnaedalJ, JonssonPV, et al. (2012) A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 488 : 96–99.

27. JonssonT, StefanssonH, SteinbergS, JonsdottirI, JonssonPV, et al. (2013) Variant of TREM2 Associated with the Risk of Alzheimer's Disease. N Engl J Med 368 : 107–116.

28. GuerreiroR, WojtasA, BrasJ, CarrasquilloM, RogaevaE, et al. (2013) Alzheimer Genetic Analysis Group (2013) TREM2 variants in Alzheimer's disease. N Engl J Med 368 : 117–127.

29. FooLL, NongpiurME, AllenJC, PereraSA, FriedmanDS, et al. (2012) Determinants of angle width in Chinese Singaporeans. Ophthalmology 119 : 278–282.

30. Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447 : 661–78.

31. MorrisAP, VoightBF, TeslovichTM, FerreiraT, SegrèAV, et al. (2012) Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet 44 : 981–990.

32. KhorCC, ChauTN, PangJ, DavilaS, LongHT, et al. (2011) Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. Nat Genet 43 : 1139–1141.

33. ZhangF, LiuH, ChenS, LowH, SunL, et al. (2011) Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet 43 : 1247–1251.

34. UK IBD Genetics Consortium (2009) BarrettJC, LeeCJ, LeesCW, PrescottNJ, AndersonCA, et al. (2009) Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet 41 : 1330–1334.

35. KhorCC, DavilaS, BreunisWB, LeeYC, ShimizuC, et al. (2011) Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease. Nat Genet 43 : 1241–1246.

36. FoongAW, SawSM, LooJL, ShenS, LoonSC, et al. (2007) Rationale and methodology for a population-based study of eye diseases in Malay people: The Singapore Malay eye study (SiMES). Ophthalmic Epidemiol 14 : 25–35.

37. LavanyaR, JeganathanVS, ZhengY, RajuP, CheungN, et al. (2009) Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol 16 : 325–336.

38. ZhangH, XuL, ChenC, JonasJB (2008) Central corneal thickness in adult Chinese. Association with ocular and general parameters. The Beijing Eye Study. Graefes Arch Clin Exp Ophthalmol 246 : 587–592.

39. VithanaEN, AungT, KhorCC, CornesBK, TayWT, et al. (2011) Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet 20 : 649–658.

40. KhorCC, RamdasWD, VithanaEN, CornesBK, SimX, et al. (2011) Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet 20 : 1864–1872.

41. CornesBK, KhorCC, NongpiurME, XuL, TayWT, et al. (2012) Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Hum Mol Genet 21 : 437–445.

42. PurcellS, NealeB, Todd-BrownK, ThomasL, FerreiraMA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81 : 559–575.

43. van HeelDA, FrankeL, HuntKA, GwilliamR, ZhernakovaA, et al. (2007) A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet 39 : 827–829.