Bivariate genome-wide association study implicates ATP6V1G1 as a novel pleiotropic locus underlying osteoporosis and age at menarche

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 11, 2015, Pages E1457-E1466

  Tan, Li Jun ^a   Wang, Zhuo Er ^a   Wu, Ke Hao ^a   Chen, Xiang Ding ^a   Zhu, Hu ^a   Lu, Shan ^a   Tian, Qing ^b   Liu, Xiao Gang ^c   Papasian, Christopher J ^d   Deng, Hong Wen ^a,b  

^a HUNAN NORMAL UNIVERSITY   (China)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c XI'AN JIAOTONG UNIVERSITY   (China)

^d UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AFRICAN AMERICAN; ARTICLE; ATP6V1G1 GENE; BIVARIATE ANALYSIS; BONE DENSITY; CAUCASIAN; CHINESE; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; HIP; HISPANIC; HUMAN; MENARCHE; OSTEOPOROSIS; PLEIOTROPY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; 5' UNTRANSLATED REGION; ADOLESCENT; ADOLESCENT DEVELOPMENT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CLINICAL TRIAL; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; META ANALYSIS; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; POSTMENOPAUSE OSTEOPOROSIS; UNITED STATES; YOUNG ADULT;

5' UNTRANSLATED REGION; ATP6V1G1 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADOLESCENT DEVELOPMENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; CHINA; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MENARCHE; MIDDLE AGED; OSTEOPOROSIS; OSTEOPOROSIS, POSTMENOPAUSAL; POLYMORPHISM, SINGLE NUCLEOTIDE; UNITED STATES; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 84958623119     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-2095     Document Type: Article

References (40)

1. Ammann P, Rizzoli R. Bone strength and its determinants. Osteoporos Int. 2003;14(suppl 3):S13-S18.
2. Hawker GA, Jamal SA, Ridout R, Chase C.Aclinical prediction rule to identify premenopausal women with low bone mass. Osteoporos Int. 2002;13(5):400-406.
3. Burge R, Dawson-Hughes B, Solomon DH, Wong JB, King A, Tosteson A. Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025. J Bone Miner Res. 2007; 22(3):465-475.
4. Dhanwal DK, Dennison EM, Harvey NC, Cooper C. Epidemiology of hip fracture: worldwide geographic variation. Indian J Orthop. 2011;45(1):15-22.
5. Xia WB, He SL, Xu L, et al. Rapidly increasing rates of hip fracture in Beijing, China. J Bone Miner Res. 2012;27(1):125-129.
6. Anderson CA, Duffy DL, Martin NG, Visscher PM. Estimation of variance components for age at menarche in twin families. Behav Genet. 2007;37(5):668-677.
7. Silman AJ. Risk factors for Colles' fracture in men and women: results from the European Prospective Osteoporosis Study. Osteoporos Int. 2003;14(3):213-218.
8. Eastell R. Role of oestrogen in the regulation of bone turnover at the menarche. J Endocrinol. 2005;185(2):223-234.
9. Riggs BL, Khosla S, Melton LJ 3rd. Sex steroids and the construction and conservation of the adult skeleton. Endocr Rev. 2002;23(3): 279-302.
10. Chamouni A, Oury F. Reciprocal interaction between bone and gonads. Arch Biochem Biophys. 2014;561:147-153.
11. Karsenty G. The mutual dependence between bone and gonads. J Endocrinol. 2012;213(2):107-114.
12. Gerdhem P, Obrant KJ. Bone mineral density in old age: the influence of age at menarche and menopause. J Bone Miner Metab. 2004; 22(4):372-375.
13. Guo Y, Zhao LJ, Shen H, Guo Y, Deng HW. Genetic and environmental correlations between age at menarche and bone mineral density at different skeletal sites. Calcif Tissue Int. 2005;77(6):356-360.
14. Pan F, Xiao P, Guo Y, et al. Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density. Hum Genet. 2008;123(4):419-427.
15. Styrkarsdottir U, Thorleifsson G, Sulem P, et al. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits. Nature. 2013;497(7450):517-520.
16. Zofkova I. [Role of genetics in prediction of osteoporosis risk]. Vnitrni Lekarstvi. 2011;57(1):78-84.
17. Richards JB, Zheng HF, Spector TD. Genetics of osteoporosis from genome-wide association studies: advances and challenges. Nat Rev Genet. 2012;13(8):576-588.
18. Dvornyk V, Waqar-ul H. Genetics of age at menarche: a systematic review. Hum Reprod Update. 2012;18(2):198-210.
19. Perry JR, Day F, Elks CE, et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514(7520):92-97.
20. Deng HW, Shen H, Xu FH, et al. Tests of linkage and/or association of genes for vitamin D receptor, osteocalcin, and parathyroid hormone with bone mineral density. J Bone Miner Res. 2002;17(4): 678-686.
21. Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group. Control Clin Trials. 1998;19(1):61-109.
22. Zhang L, Choi HJ, Estrada K, et al. Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. Hum Mol Genet. 2014;23(7):1923-1933.
23. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38(8):904-909.
24. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient metaanalysis of genomewide association scans. Bioinformatics. 2010; 26(17):2190-2191.
25. RenteriaME,Cortes A, Medland SE. UsingPLINKfor genome-wide association studies (GWAS) and data analysis. Methods Mol Biol. 2013;1019:193-213.
26. Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics. 2010;26(18):2336-2337.
27. Qin A, Cheng TS, Pavlos NJ, Lin Z, Dai KR, ZhengMH.V-ATPases in osteoclasts: structure, function and potential inhibitors of bone resorption. Int J Biochem Cell Biol. 2012;44(9):1422-1435.
28. Kornak U, Schulz A, Friedrich W, et al. Mutations in the a3 subunit of the vacuolar H(-)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet. 2000;9(13):2059-2063.
29. Xu J, Cheng T, Feng HT, Pavlos NJ, Zheng MH. Structure and function of V-ATPases in osteoclasts: potential therapeutic targets for the treatment of osteolysis. Histol Histopathol. 2007;22(4):443-454.
30. Bohrmann J, Braun B. Na,K-ATPase and V-ATPase in ovarian follicles of Drosophila melanogaster. Biol Cell. 1999;91(2):85-98.
31. Mutoh K, Tsukahara S, Mitsuhashi J, Katayama K, Sugimoto Y. Estrogen-mediated post transcriptional down-regulation of P-glycoprotein in MDR1-transduced human breast cancer cells. Cancer Sci. 2006;97(11):1198-1204.
32. Bernstein L, Pike MC, Ross RK, Henderson BE. Age at menarche and estrogen concentrations of adult women. Cancer Causes Control. 1991;2(4):221-225.
33. Lovas K, Gjesdal CG, Christensen M, et al. Glucocorticoid replacement therapy and pharmacogenetics in Addison's disease: effects on bone. Eur J Endocrinol. 2009;160(6):993-1002.
34. Kochi Y, Suzuki A, Yamada R, Yamamoto K. Genetics of rheumatoid arthritis: underlying evidence of ethnic differences. J Autoimmun. 2009;32(3-4):158-162.
35. Melton LJ 3rd. Adverse outcomes of osteoporotic fractures in the general population. J Bone Miner Res.. 2003;18(6):1139-1141.
36. Xiao SM, Kung AW, Gao Y, et al. Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density. Hum Mol Genet. 2012;21(7):1648-1657.
37. Morrison NA, Stephens AS, Osato M, et al. Polyalanine repeat polymorphism inRUNX2is associated with site-specific fracture in postmenopausal females. PloS One. 2013;8(9):e72740.
38. Morris AP. Transethnic meta-analysis of genomewide association studies. Genet Epidemiol. 2011;35(8):809-822.
39. Tan LJ, Zhu H, He H, et al. Replication of 6 obesity genes in a meta-analysis of genome-wide association studies from diverse ancestries. PloS One. 2014;9(5):e96149.
40. Must A, Phillips SM, Naumova EN, et al. Recall of early menstrual history and menarcheal body size: after 30 years, how well do women remember? Am J Epidemiol. 2002;155(7):672-679.