Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF)

Human Molecular Genetics

Volumn 21, Issue 2, 2012, Pages 430-436

  Qin, Yingying ^a   Zhao, Han ^a   Xu, Jianfeng ^b   Shi, Yongyong ^c   Li, Zhiqiang ^c   Qiao, Jie ^d,l   Liu, Jiayin ^e   Qin, Chunrong ^f   Ren, Chune ^g   Li, Jie ^h   Chen, Shiling ⁱ   Cao, Yunxia ^j   Simpson, Joe Leigh ^k   Chen, Zi Jiang ^a  

^a SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d PEKING UNIVERSITY THIRD HOSPITAL   (China)

^e NANJING MEDICAL UNIVERSITY   (China)

^f Maternal and Child Health Hospital   (China)

^g WEIFANG MEDICAL UNIVERSITY   (China)

^h SUN YAT SEN UNIVERSITY   (China)

ⁱ FIRST MILITARY MEDICAL UNIVERSITY   (China)

^j ANHUI MEDICAL UNIVERSITY   (China)

^k FLORIDA INTERNATIONAL UNIVERSITY   (United States)

^l BEIJING UNIVERSITY OF POSTS AND TELECOMMUNICATIONS   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOME; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; OOCYTE DEVELOPMENT; OVARY; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CHINA; CHROMOSOMES, HUMAN, PAIR 8; ETHNIC GROUPS; FEMALE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY;

EID: 84855411635     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr462     Document Type: Article

References (53)

1. Coulam, C.B., Adamson, S.C. and Annegers, J.F. (1986) Incidence of premature ovarian failure. Obstet. Gynecol., 67, 604-606.
2. Simpson, J.L. (2008) Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann. N. Y. Acad. Sci., 1135, 146-154.
3. Simpson, J.L. and Rajkovic, A. (1999) Ovarian differentiation and gonadal failure. Am. J. Med. Genet., 89, 186-200.
4. Ochalski, M.E., Engle, N., Wakim, A., Ravnan, B.J., Hoffner, L., Rajkovic, A. and Surti, U. (2011) Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency. Fertil. Steril., 95, e9-e15.
5. Bione, S., Sala, C., Manzini, C., Arrigo, G., Zuffardi, O., Banfi, S., Borsani, G., Jonveaux, P., Philippe, C., Zuccotti, M. et al. (1998) A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am. J. Hum. Genet., 62, 533-541.
6. Lacombe, A., Lee, H., Zahed, L., Choucair, M., Muller, J.M., Nelson, S.F., Salameh, W. and Vilain, E. (2006) Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am. J. Hum. Genet., 79, 113-119.
7. Sala, C., Arrigo, G., Torri, G., Martinazzi, F., Riva, P., Larizza, L., Philippe, C., Jonveaux, P., Sloan, F., Labella, T. et al. (1997) Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics, 40, 123-131.
8. Dudding, T.E., Lawrence, O., Winship, I., Froyen, G., Vandewalle, J., Scott, R. and Shelling, A.N. (2010) Array comparative genomic hybridization for the detection of submicroscopic copy number variations of the X chromosome in women with premature ovarian failure. Hum. Reprod., 25, 3159-3160.
9. Quilter, C.R., Karcanias, A.C., Bagga, M.R., Duncan, S., Murray, A., Conway, G.S., Sargent, C.A. and Affara, N.A. (2010) Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). Hum. Reprod., 25, 2139-2150.
10. Wittenberger, M.D., Hagerman, R.J., Sherman, S.L., McConkie-Rosell, A., Welt, C.K., Rebar, R.W., Corrigan, E.C., Simpson, J.L. and Nelson, L.M. (2007) The FMR1 premutation and reproduction. Fertil. Steril., 87, 456-465.
11. Jacquemont, S., Hagerman, R.J., Hagerman, P.J. and Leehey, M.A. (2007) Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol., 6, 45-55.
12. Uhlenhaut, N.H., Jakob, S., Anlag, K., Eisenberger, T., Sekido, R., Kress, J., Treier, A.C., Klugmann, C., Klasen, C., Holter, N.I. et al. (2009) Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell, 139, 1130-1142.
13. Aittomaki, K., Lucena, J.L., Pakarinen, P., Sistonen, P., Tapanainen, J., Gromoll, J., Kaskikari, R., Sankila, E.M., Lehvaslaiho, H., Engel, A.R. et al. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell, 82, 959-968.
14. Zhao, H., Qin, Y., Kovanci, E., Simpson, J.L., Chen, Z.J. and Rajkovic, A. (2007) Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil. Steril., 88, 1474-1476.
15. Tiotiu, D., Alvaro Mercadal, B., Imbert, R., Verbist, J., Demeestere, I., De Leener, A., Englert, Y., Vassart, G., Costagliola, S. and Delbaere, A. (2010) Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Hum. Reprod., 25, 1581-1587.
16. Prakash, G.J., Ravi Kanth, V.V., Shelling, A.N., Rozati, R. and Sujatha, M. (2010) Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure. Fertil. Steril., 94, 90-98.
17. Qin, Y., Choi, Y., Zhao, H., Simpson, J.L., Chen, Z.J. and Rajkovic, A. (2007) NOBOX homeobox mutation causes premature ovarian failure. Am. J. Hum. Genet., 81, 576-581.
18. Zhao, H., Chen, Z.J., Qin, Y., Shi, Y., Wang, S., Choi, Y., Simpson, J.L. and Rajkovic, A. (2008) Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am. J. Hum. Genet., 82, 1342-1348.
19. Wang, J., Wang, B., Song, J., Suo, P., Ni, F., Chen, B., Ma, X. and Cao, Y. (2011) New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients. Reprod. Biomed. Online, 22, 312-316.
20. Mandon-Pepin, B., Touraine, P., Kuttenn, F., Derbois, C., Rouxel, A., Matsuda, F., Nicolas, A., Cotinot, C. and Fellous, M. (2008) Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur. J. Endocrinol., 158, 107-115.
21. Suzumori, N., Burns, K.H., Yan, W. and Matzuk, M.M. (2003) RFPL4 interacts with oocyte proteins of the ubiquitin-proteasome degradation pathway. Proc. Natl Acad. Sci. USA, 100, 550-555.
22. Qin, Y., Zhao, H., Kovanci, E., Simpson, J.L., Chen, Z.J. and Rajkovic, A. (2007) Mutation analysis of NANOS3 in 80 Chinese and 88 Caucasian women with premature ovarian failure. Fertil. Steril., 88, 1465-1467.
23. Kovanci, E., Simpson, J.L., Amato, P., Rohozinski, J., Heard, M.J., Bishop, C.E. and Carson, S.A. (2008) Oocyte-specific G-protein-coupled receptor 3 (GPR3): no perturbations found in 82 women with premature ovarian failure (first report). Fertil. Steril., 90, 1269-1271.
24. Qin, Y., Zhao, H., Kovanci, E., Simpson, J.L., Chen, Z.J. and Rajkovic, A. (2008) Analysis of LHX8 mutation in premature ovarian failure. Fertil. Steril., 89, 1012-1014.
25. Shimizu, Y., Kimura, F., Takebayashi, K., Fujiwara, M., Takakura, K. and Takahashi, K. (2009) Mutational analysis of the PTEN gene in women with premature ovarian failure. Acta Obstet. Gynecol. Scand., 88, 824-825.
26. Laissue, P., Christin-Maitre, S., Bouchard, P., Fellous, M. and Veitia, R.A. (2007) Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure. Clin. Endocrinol. (Oxf.), 66, 900.
27. Shibanuma, K., Tong, Z.B., Vanderhoof, V.H., Vanevski, K. and Nelson, L.M. (2002) Investigation of KIT gene mutations in women with 46,XX spontaneous premature ovarian failure. BMC Womens Health, 2, 8.
28. Watkins, W.J., Umbers, A.J., Woad, K.J., Harris, S.E., Winship, I.M., Gersak, K. and Shelling, A.N. (2006) Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure. Fertil. Steril., 86, 1518-1521.
29. Wang, H.Q., Takakura, K., Takebayashi, K. and Noda, Y. (2002) Mutational analysis of the mullerian-inhibiting substance gene and its receptor gene in Japanese women with polycystic ovary syndrome and premature ovarian failure. Fertil. Steril., 78, 1329-1330.
30. Harris, S.E., Chand, A.L., Winship, I.M., Gersak, K., Aittomaki, K. and Shelling, A.N. (2002) Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol. Hum. Reprod., 8, 729-733.
31. Laissue, P., Vinci, G., Veitia, R.A. and Fellous, M. (2008) Recent advances in the study of genes involved in non-syndromic premature ovarian failure. Mol. Cell. Endocrinol., 282, 101-111.
32. Bukman, A. and Heineman, M.J. (2001) Ovarian reserve testing and the use of prognostic models in patients with subfertility. Hum. Reprod. Update, 7, 581-590.
33. Kang, H., Lee, S.K., Kim, M.H., Song, J., Bae, S.J., Kim, N.K., Lee, S.H. and Kwack, K. (2008) Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. Hum. Reprod., 23, 1457-1465.
34. Knauff, E.A., Franke, L., van Es, M.A., van den Berg, L.H., van der Schouw, Y.T., Laven, J.S., Lambalk, C.B., Hoek, A., Goverde, A.J., Christin-Maitre, S. et al. (2009) Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene. Hum. Reprod., 24, 2372-2378.
35. Oldenburg, R.A., van Dooren, M.F., de Graaf, B., Simons, E., Govaerts, L., Swagemakers, S., Verkerk, J.M., Oostra, B.A. and Bertoli-Avella, A.M. (2008)Agenome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus. Hum. Reprod., 23, 2835-2841.
36. Sills, E.S., Harmon, K.E. and Tucker, M.J. (2002) First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita. Fertil. Steril., 78, 1314-1316.
37. Tupler, R., Barbierato, L., Larizza, D., Sampaolo, P., Piovella, F. and Maraschio, P. (1994) Balanced autosomal translocations and ovarian dysgenesis. Hum. Genet., 94, 171-176.
38. Aboura, A., Dupas, C., Tachdjian, G., Portnoi, M.F., Bourcigaux, N., Dewailly, D., Frydman, R., Fauser, B., Ronci-Chaix, N., Donadille, B. et al. (2009) Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. J. Clin. Endocrinol. Metab., 94, 4540-4546.
39. Ledig, S., Ropke, A. and Wieacker, P. (2010) Copy number variants in premature ovarian failure and ovarian dysgenesis. Sex Dev., 4, 225-232.
40. Kwok, C., Weller, P.A., Guioli, S., Foster, J.W., Mansour, S., Zuffardi, O., Punnett, H.H., Dominguez-Steglich, M.A., Brook, J.D., Young, I.D. et al. (1995) Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am. J. Hum. Genet., 57, 1028-1036.
41. Huang, B., Wang, S., Ning, Y., Lamb, A.N. and Bartley, J. (1999) Autosomal XX sex reversal caused by duplication of SOX9. Am. J. Med. Genet., 87, 349-353.
42. Qin, Y. and Bishop, C.E. (2005) Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry. Hum. Mol. Genet., 14, 1221-1229.
43. Leipoldt, M., Erdel, M., Bien-Willner, G.A., Smyk, M., Theurl, M., Yatsenko, S.A., Lupski, J.R., Lane, A.H., Shanske, A.L., Stankiewicz, P. et al. (2007) Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin. Genet., 71, 67-75.
44. He, C., Kraft, P., Chasman, D.I., Buring, J.E., Chen, C., Hankinson, S.E., Pare, G., Chanock, S., Ridker, P.M. and Hunter, D.J. (2010) A large-scale candidate gene association study of age at menarche and age at natural menopause. Hum. Genet., 5, 515-527.
45. He, C., Kraft, P., Chen, C., Buring, J.E., Pare, G., Hankinson, S.E., Chanock, S.J., Ridker, P.M., Hunter, D.J. and Chasman, D.I. (2009) Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. Nat. Genet., 6, 724-728.
46. Murray, A., Bennett, C.E., Perry, J.R., Weedon, M.N., Jacobs, P.A., Morris, D.H., Orr, N., Schoemaker, M.J., Jones, M., Ashworth, A. et al. (2011) Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study. Hum. Mol. Genet., 1, 186-192.
47. Stolk, L., Zhai, G., van Meurs, J.B., Verbiest, M.M., Visser, J.A., Estrada, K., Rivadeneira, F., Williams, F.M., Cherkas, L., Deloukas, P. et al. (2009) Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Nat. Genet., 6, 645-647.
48. Korn, J.M., Kuruvilla, F.G., McCarroll, S.A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P.J., Darvishi, K. et al. (2008) Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet., 40, 1253-1260.
49. Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904-909.
50. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
51. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
52. Shi, Y.Y. and He, L. (2005) SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell. Res., 15, 97-98.
53. Mantel, N. and Haenszel, W. (1959) Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl Cancer. Inst., 22, 719-748.