Risk-associated coding synonymous SNPs in type 2 diabetes and neurodegenerative diseases: Genetic silence and the underrated association with splicing regulation and epigenetics

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 770, Issue , 2014, Pages 85-93

  Karambataki, M ^a   Malousi, A ^a   Kouidou, S ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

Author keywords

Methylation; Neurodegenerative diseases; Splicing regulation; Synonymous SNPs; Type 2 diabetes

Indexed keywords

DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; DNA; INSULIN RECEPTOR; INSULIN RECEPTOR SUBSTRATE 1; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; SOMATOMEDIN C; RNA SPLICING;

ARTICLE; CPG ISLAND; DEGENERATIVE DISEASE; DNA METHYLATION; EPIGENETICS; GCGR GENE; GENE DELETION; GENE ONTOLOGY; GENE SILENCING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC REGULATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; IGF1 GENE; NON INSULIN DEPENDENT DIABETES MELLITUS; PPARGC1A GENE; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; ALTERNATIVE RNA SPLICING; GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS; REGULATORY SEQUENCE; RISK FACTOR;

ALTERNATIVE SPLICING; CPG ISLANDS; DIABETES MELLITUS, TYPE 2; EPIGENESIS, GENETIC; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; NEURODEGENERATIVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; REGULATORY SEQUENCES, NUCLEIC ACID; RISK FACTORS; RNA SPLICE SITES;

EID: 84908348675     PISSN: 00275107     EISSN: 09218262     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2014.09.005     Document Type: Article

References (117)

1. Miyake K., Yang C., Minakuchi Y., Ohori K., Soutome M., Hirasawa T., et al. Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome. PLOS ONE 2013, 8(6):e66729.
2. Stefan M., Zhang W., Concepcion E., Yi Z., Tomer Y. DNA methylation profiles in type 1 diabetes twins point to strong epigenetic effects on etiology. J. Autoimmun. May 2014, 50:33-37.
3. Poulsen P., Esteller M., Vaag A., Fraga M.F. The epigenetic basis of twin discordance in age-related diseases. Pediatr. Res. 2007, 61(May (5 Pt 2)):38R-42R.
4. Blewitt M., Whitelaw E. The use of mouse models to study epigenetics. Cold Spring Harb. Perspect Biol. 2013, 5(November (11)):a017939.
5. Waterland R.A., Travisano M., Tahiliani K.G. Diet-induced hypermethylation at agouti viable yellow is not inherited transgenerationally through the female. FASEB J. 2007, 21(October (12)):3380-3385.
6. Malan-Muller S., Seedat S., Hemmings S.M. Understanding posttraumatic stress disorder: insights from the methylome. Genes Brain Behav. 2014, 13(January (1)):52-68.
7. Stevenson T.J., Prendergast B.J. Reversible DNA methylation regulates seasonal photoperiodic time measurement. Proc. Natl. Acad. Sci. U. S. A. 2013, 110(October (41)):16651-16656.
8. Lee K.W., Pausova Z. Cigarette smoking and DNA methylation. Front. Genet. 2013, 4:132.
9. Issa J.P. Aging and epigenetic drift: a vicious cycle. J. Clin. Invest. 2014, 124(January (1)):24-29.
10. Raddatz G., Hagemann S., Aran D., Sohle J., Kulkarni P.P., Kaderali L., et al. Aging is associated with highly defined epigenetic changes in the human epidermis. Epigenet. Chromatin. 2013, 6(1):36.
11. Fraga M.F., Esteller M. Epigenetics and aging: the targets and the marks. Trends Genet. 2007, 23(August (8)):413-418.
12. Pilling L.C., Harries L.W., Powell J., Llewellyn D.J., Ferrucci L., Melzer D. Genomics and successful aging: grounds for renewed optimism?. J. Gerontol. A. Biol. Sci. Med. Sci. 2012, 67(May (5)):511-519.
13. De Sandre-Giovannoli A., Levy N. Altered splicing in prelamin A-associated premature aging phenotypes. Prog. Mol. Subcell Biol. 2006, 44:199-232.
14. Andreadis A. Tau splicing and the intricacies of dementia. J. Cell. Physiol. 2011, 227(March (3)):1220-1225.
15. Mills J.D., Janitz M. Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases. Neurobiol. Aging 2012, 33(May (5)). 1012 e11-24.
16. Young J.I., Hong E.P., Castle J.C., Crespo-Barreto J., Bowman A.B., Rose M.F., et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc. Natl. Acad. Sci. U. S. A. 2005, 102(December (49)):17551-17558.
17. Benmoyal-Segal L., Soreq L., Ben-Shaul Y., Ben-Ari S., Ben-Moshe T., Aviel S., et al. Adaptive alternative splicing correlates with less environmental risk of parkinsonism. Neurodegener. Dis. 2012, 9(2):87-98.
18. Pleiss J.A., Whitworth G.B., Bergkessel M., Guthrie C. Rapid, transcript-specific changes in splicing in response to environmental stress. Mol. Cell. 2007, 27(September (6)):928-937.
19. Yang L., Park J., Graveley B.R. Splicing from the outside in. Mol. Cell 2007, 27(September (6)):861-862.
20. Meshorer E., Soreq H. Pre-mRNA splicing modulations in senescence. Aging Cell. 2002, 1(October (1)):10-16.
21. Coppieters N., Dieriks B.V., Lill C., Faull R.L., Curtis M.A., Dragunow M. Global changes in DNA methylation and hydroxymethylation in Alzheimer's disease human brain. Neurobiol. Aging June 2014, 35(6):1334-1344.
22. Lista S., Garaci F.G., Toschi N., Hampel H. Imaging epigenetics in Alzheimer's disease. Curr. Pharm. Des. 2013, 19(36):6393-6415.
23. Millan M.J. An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy. Neuropharmacology 2013 May, 68(May):2-82.
24. Slomko H., Heo H.J., Einstein F.H. Minireview: epigenetics of obesity and diabetes in humans. Endocrinology 2012, 153(March (3)):1025-1030.
25. Pinney S.E., Simmons R.A. Epigenetic mechanisms in the development of type 2 diabetes. Trends Endocrinol. Metab. 2009, 21(April (4)):223-229.
26. Yokomori N., Tawata M., Onaya T. DNA demethylation during the differentiation of 3T3-L1 cells affects the expression of the mouse GLUT4 gene. Diabetes 1999, 48(April (4)):685-690.
27. Park S.A. A common pathogenic mechanism linking type-2 diabetes and Alzheimer's disease: evidence from animal models. J. Clin. Neurol. 2011, 7(March (1)):10-18.
28. Lu Z.X., Jiang P., Xing Y. Genetic variation of pre-mRNA alternative splicing in human populations. Wiley Interdiscip. Rev. RNA 2012, 3(July-August (4)):581-592.
29. Warnecke T., Weber C.C., Hurst L.D. Why there is more to protein evolution than protein function: splicing, nucleosomes and dual-coding sequence. Biochem. Soc. Trans. 2009, 37(August (Pt 4)):756-761.
30. Wang Z., Burge C.B. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 2008, 14(May (5)):802-813.
31. Siegel T.N., Tan K.S., Cross G.A. Systematic study of sequence motifs for RNA trans splicing in Trypanosoma brucei. Mol. Cell Biol. 2005, 25(November (21)):9586-9594.
32. Valouev A., Ichikawa J., Tonthat T., Stuart J., Ranade S., Peckham H., et al. A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res. 2008, 18(July (7)):1051-1063.
33. Shivaswamy S., Bhinge A., Zhao Y., Jones S., Hirst M., Iyer V.R. Dynamic remodeling of individual nucleosomes across a eukaryotic genome in response to transcriptional perturbation. PLoS Biol. 2008, 6(March (3)):e65.
34. Schones D.E., Cui K., Cuddapah S., Roh T.Y., Barski A., Wang Z., et al. Dynamic regulation of nucleosome positioning in the human genome. Cell 2008, 132(March (5)):887-898.
35. Mavrich T.N., Jiang C., Ioshikhes I.P., Li X., Venters B.J., Zanton S.J., et al. Nucleosome organization in the Drosophila genome. Nature 2008, 453(May (7193)):358-362.
36. Lee W., Tillo D., Bray N., Morse R.H., Davis R.W., Hughes T.R., et al. A high-resolution atlas of nucleosome occupancy in yeast. Nat. Genet. 2007, 39(October (10)):1235-1244.
37. Khan D.H., Jahan S., Davie J.R. Pre-mRNA splicing: role of epigenetics and implications in disease. Adv. Biol. Regul. 2012, 52(September (3)):377-388.
38. Luco R.F., Pan Q., Tominaga K., Blencowe B.J., Pereira-Smith O.M., Misteli T. Regulation of alternative splicing by histone modifications. Science 2011, 327(February (5968)):996-1000.
39. Lois S., Blanco N., Martinez-Balbas M., de la Cruz X. The functional modulation of epigenetic regulators by alternative splicing. BMC Genomics 2007, 8:252.
40. Fung K.L., Gottesman M.M. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochim. Biophys. Acta 2009, 1794(May (5)):860-871.
41. Tsai C.J., Sauna Z.E., Kimchi-Sarfaty C., Ambudkar S.V., Gottesman M.M., Nussinov R. Synonymous mutations and ribosome stalling can lead to altered folding pathways and distinct minima. J. Mol. Biol. 2008, 383(November (2)):281-291.
42. Kimchi-Sarfaty C., Oh J.M., Kim I.W., Sauna Z.E., Calcagno A.M., Ambudkar S.V., et al. A "silent" polymorphism in the MDR1 gene changes substrate specificity. Science 2007, 315(January (5811)):525-528.
43. Chamary J.V., Hurst L.D. Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals. Genome Biol. 2005, 6(9):R75.
44. Duan J., Wainwright M.S., Comeron J.M., Saitou N., Sanders A.R., Gelernter J., et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum. Mol. Genet. 2003, 12(February (3)):205-216.
45. Grymek K., Lukasiewicz S., Faron-Goreckaa A., Tworzydlo M., Polit A., Dziedzicka-Wasylewska M. Role of silent polymorphisms within the dopamine D1 receptor associated with schizophrenia on D1-D2 receptor hetero-dimerization. Pharmacol. Rep. 2009, 61(November-December (6)):1024-1033.
46. Fedetz M., Matesanz F., Caro-Maldonado A., Fernandez O., Tamayo J.A., Guerrero M., et al. OAS1 gene haplotype confers susceptibility to multiple sclerosis. Tissue Antigens 2006, 68(November (5)):446-449.
47. Capon F., Allen M.H., Ameen M., Burden A.D., Tillman D., Barker J.N., et al. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Hum. Mol. Genet. 2004, 13(October (20)):2361-2368.
48. Freeman H., Cox R.D. Type-2 diabetes: a cocktail of genetic discovery. Hum. Mol. Genet. 2006, 15(October (Spec No 2)):R202-R209.
49. Barroso I. Genetics of Type 2 diabetes. Diabet. Med. 2005, 22(May (5)):517-535.
50. McCarthy M.I. Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification. Hum. Mol. Genet. 2004, 13(April (Spec No 1)):R33-R41.
51. Florez J.C., Hirschhorn J., Altshuler D. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. Annu. Rev. Genomics Hum. Genet. 2003, 4:257-291.
52. Karambataki M., Malousi A., Maglaveras N., Kouidou S. Synonymous polymorphisms at splicing regulatory sites are associated with CpGs in neurodegenerative disease-related genes. Neuromolecular Med. 2010, 12(September (3)):260-269.
53. Boue S., Letunic I., Bork P. Alternative splicing and evolution. Bioessays 2003, 25(November (11)):1031-1034.
54. Cartegni L., Wang J., Zhu Z., Zhang M.Q., Krainer A.R. ESEfinder: a web resource to identify exonic splicing enhancers. Nucl. Acids Res. 2003, 31(July (13)):3568-3571.
55. Qu H.Q., Lawrence S.G., Guo F., Majewski J., Polychronakos C. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms. BMC Genomics 2006, 7:213.
56. Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., et al. dbSNP: the NCBI database of genetic variation. Nucl. Acids Res. 2001, 29(January (1)):308-311.
57. Zaitlen N.A., Kang H.M., Feolo M.L., Sherry S.T., Halperin E., Eskin E. Inference and analysis of haplotypes from combined genotyping studies deposited in dbSNP. Genome Res. 2005, 15(November (11)):1594-1600.
58. Sherry S.T., Ward M., Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res. 1999, 9(August (8)):677-679.
59. Harris M.A., Clark J., Ireland A., Lomax J., Ashburner M., Foulger R., et al. The Gene Ontology (GO) database and informatics resource. Nucl. Acids Res. 2004, 1(January (32)):D258-D261.
60. Kouidou S., Malousi A., Maglaveras N. Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. Mol. Carcinog. 2009, 48(October (10)):895-902.
61. Alsaraj F., O'Gorman D., McAteer S., McDermott J., Hawi Z., Sreenan S. Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample. Ir. J. Med. Sci. 2010, 179(June (2)):269-272.
62. Kilpelainen T.O., Lakka T.A., Laaksonen D.E., Mager U., Salopuro T., Kubaszek A., et al. Interaction of single nucleotide polymorphisms in ADRB2, ADRB3, TNF, IL6, IGF1R, LIPC, LEPR, and GHRL with physical activity on the risk of type 2 diabetes mellitus and changes in characteristics of the metabolic syndrome: The Finnish Diabetes Prevention Study. Metabolism 2008, 57(March (3)):428-436.
63. Laukkanen O., Lindstrom J., Eriksson J., Valle T.T., Hamalainen H., Ilanne-Parikka P., et al. Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Diabetes 2005, 54(July (7)):2256-2260.
64. Barroso I., Luan J., Middelberg R.P., Harding A.H., Franks P.W., Jakes R.W., et al. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol. 2003, 1(October (1)). E20.
65. Ban H.J., Heo J.Y., Oh K.S., Park K.J. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. BMC Genet. 2010, 11:26.
66. Jamshidi Y., Gooljar S.B., Snieder H., Wang X., Ge D., Swaminathan R., et al. SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women. Atherosclerosis 2007, 194(October (2)):e26-e33.
67. Desrivieres S., Krause K., Dyer A., Frank J., Blomeyer D., Lathrop M., et al. Nucleotide sequence variation within the PI3K p85 alpha gene associates with alcohol risk drinking behaviour in adolescents. PLoS ONE 2008, 3(3):e1769.
68. Harrill A.H., Watkins P.B., Su S., Ross P.K., Harbourt D.E., Stylianou I.M., et al. Mouse population-guided resequencing reveals that variants in CD44 contribute to acetaminophen-induced liver injury in humans. Genome Res. 2009, 19(September (9)):1507-1515.
69. Kaul R., Gao G.P., Aloya M., Balamurugan K., Petrosky A., Michals K., et al. Canavan disease: mutations among Jewish and non-Jewish patients. Am. J. Hum. Genet. 1994, 55(July (1)):34-41.
70. Kanthappan R., Sethumadhavan R. Identification of structurally and functionally significant deleterious nsSNPs of GSS gene: in silico analysis. Adv. Biosci. Biotechnol. 2010, 1(October (4)):361-366.
71. Das S.K., Sharma N.K., Chu W.S., Wang H., Elbein S.C. Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis. BMC Med. Genet. 2008, 9:16.
72. Finck B.N., Kelly D.P. PGC-1 coactivators: inducible regulators of energy metabolism in health and disease. J. Clin. Invest. 2006, 116(March (3)):615-622.
73. Sorensen H., Winzell M.S., Brand C.L., Fosgerau K., Gelling R.W., Nishimura E., et al. Glucagon receptor knockout mice display increased insulin sensitivity and impaired beta-cell function. Diabetes 2006, 55(December (12)):3463-3469.
74. Unger R.H., Cherrington A.D. Glucagonocentric restructuring of diabetes: a pathophysiologic and therapeutic makeover. J. Clin. Invest. 2012, 122(January (1)):4-12.
75. Yan H., Gu W., Yang J., Bi V., Shen Y., Lee E., et al. Fully human monoclonal antibodies antagonizing the glucagon receptor improve glucose homeostasis in mice and monkeys. J. Pharmacol. Exp. Ther. 2009, 329(April (1)):102-111.
76. Ke J., Zhang C., Harikumar K.G., Zylstra-Diegel C.R., Wang L., Mowry L.E., et al. Modulation of beta-catenin signaling by glucagon receptor activation. PLoS ONE 2012, 7(3):e33676.
77. Handschin C., Spiegelman B.M. Peroxisome proliferator-activated receptor gamma coactivator 1 coactivators, energy homeostasis, and metabolism. Endocr. Rev. 2006, 27(December (7)):728-735.
78. Lin J., Handschin C., Spiegelman B.M. Metabolic control through the PGC-1 family of transcription coactivators. Cell Metab. 2005, 1(June (6)):361-370.
79. Puigserver P., Wu Z., Park C.W., Graves R., Wright M., Spiegelman B.M. A cold-inducible coactivator of nuclear receptors linked to adaptive thermogenesis. Cell 1998, 92(March (6)):829-839.
80. Soyal S., Krempler F., Oberkofler H., Patsch W. PGC-1alpha: a potent transcriptional cofactor involved in the pathogenesis of type 2 diabetes. Diabetologia 2006, 49(July (7)):1477-1488.
81. Smith T.J. Insulin-like growth factor-I regulation of immune function: a potential therapeutic target in autoimmune diseases?. Pharmacol. Rev. 2010, 62(June (2)):199-236.
82. Lewis D.A., Travers J.B., Somani A.K., Spandau D.F. The IGF-1/IGF-1R signaling axis in the skin: a new role for the dermis in aging-associated skin cancer. Oncogene 2010, 29(March (10)):1475-1485.
83. Jenkins P.J., Bustin S.A. Evidence for a link between IGF-I and cancer. Eur. J. Endocrinol. 2004, 151(August (Suppl. 1)):S17-S22.
84. Zofkova I. Pathophysiological and clinical importance of insulin-like growth factor-I with respect to bone metabolism. Physiol. Res. 2003, 52(6):657-679.
85. Rajpathak S.N., Gunter M.J., Wylie-Rosett J., Ho G.Y., Kaplan R.C., Muzumdar R., et al. The role of insulin-like growth factor-I and its binding proteins in glucose homeostasis and type 2 diabetes. Diab. Metab. Res. Rev. 2009, 25(January (1)):3-12.
86. Conti E., Musumeci M.B., De Giusti M., Dito E., Mastromarino V., Autore C., et al. IGF-1 and atherothrombosis: relevance to pathophysiology and therapy. Clin. Sci. (Lond.) 2011, 120(May (9)):377-402.
87. Sesti G., Federici M., Lauro D., Sbraccia P., Lauro R. Molecular mechanism of insulin resistance in type 2 diabetes mellitus: role of the insulin receptor variant forms. Diab. Metab. Res. Rev. 2001, 17(September-October (5)):363-373.
88. Blackwood D.H., Fordyce A., Walker M.T., St Clair D.M., Porteous D.J., Muir W.J. Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am. J. Hum. Genet. 2001, 69(August (2)):428-433.
89. Velimezi G., Liontos M., Vougas K., Roumeliotis T., Bartkova J., Sideridou M., et al. Functional interplay between the DNA-damage-response kinase ATM and ARF tumour suppressor protein in human cancer. Nat. Cell Biol. 2013, 15(August (8)):967-977.
90. Shamma A., Suzuki M., Hayashi N., Kobayashi M., Sasaki N., Nishiuchi T., et al. ATM mediates pRB function to control DNMT1 protein stability and DNA methylation. Mol. Cell Biol. 2013, 33(August (16)):3113-3124.
91. Malousi A., Maglaveras N., Kouidou S. Intronic CpG content and alternative splicing in human genes containing a single cassette exon. Epigenetics 2008, 3(March-April (2)):69-73.
92. Tang K., Ngoi S.M., Gwee P.C., Chua J.M., Lee E.J., Chong S.S., et al. Distinct haplotype profiles and strong linkage disequilibrium at the MDR1 multidrug transporter gene locus in three ethnic Asian populations. Pharmacogenetics 2002, 12(August (6)):437-450.
93. Song Y., You N.C., Hsu Y.H., Sul J., Wang L., Tinker L., et al. Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women. Hum. Mol. Genet. 2007, 16(December (23)):2960-2971.
94. Urban J.D., Budinsky R.A., Rowlands J.C. Single nucleotide polymorphisms in the human aryl hydrocarbon receptor nuclear translocator (ARNT) gene. Drug Metab Pharmacokinet. 2011, 26(6):637-645.
95. Ziv-Gal A., Flaws J.A., Mahoney M.M., Miller S.R., Zacur H.A., Gallicchio L. Genetic polymorphisms in the aryl hydrocarbon receptor-signaling pathway and sleep disturbances in middle-aged women. Sleep Med. 2013, 14(September (9)):883-887.
96. Fukushima-Uesaka H., Saito Y., Maekawa K., Saeki M., Kamatani N., Kajio H., et al. Novel genetic variations and haplotypes of hepatocyte nuclear factor 4alpha (HNF4A) found in Japanese type II diabetic patients. Drug Metab Pharmacokinet. 2006, 21(August (4)):337-346.
97. Wagner K., Hemminki K., Grzybowska E., Klaes R., Butkiewicz D., Pamula J., et al. The insulin-like growth factor-1 pathway mediator genes: SHC1 Met300Val shows a protective effect in breast cancer. Carcinogenesis. 2004, 25(December (12)):2473-2478.
98. Feigelson H.S., Teras L.R., Diver W.R., Tang W., Patel A.V., Stevens V.L., et al. Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1 IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II. Breast Cancer Res. 2008, 10(4):R57.
99. Willer C.J., Bonnycastle L.L., Conneely K.N., Duren W.L., Jackson A.U., Scott L.J., et al. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes. 2007, 56(January (1)):256-264.
100. Davidson C.M., Northrup H., King T.M., Fletcher J.M., Townsend I., Tyerman G.H., et al. Genes in glucose metabolism and association with spina bifida. Reprod Sci. 2008, 15(January (1)):51-58.
101. Unsal T., Konac E., Yesilkaya E., Yilmaz A., Bideci A., Ilke Onen H., et al. Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR SERPINE1 genes in adolescent girls with polycystic ovary syndrome. J. Assist. Reprod. Genet. 2009, 26(April(4)):205-216.
102. Bodhini D., Sandhiya M., Ghosh S., Majumder P.P., Rao M.R., Mohan V., et al. Association of His1085His INSR gene polymorphism with type 2 diabetes in South Indians. Diabetes Technol. Ther. 2012, 14(August(8)):696-700.
103. Chen Z.J., Shi Y.H., Zhao Y.R., Li Y., Tang R., Zhao L.X., et al. [Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome]. Zhonghua Fu Chan Ke Za Zhi. 2004, 39(September (9)):582-585.
104. Richter D., Harsch S., Strohmeyer A., Hirobe-Jahn S., Schimmel S., Renner O., et al. MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha. J Proteomics. 2012, 75(June (12)):3386-3399.
105. Jamshidi Y., Snieder H., Wang X., Pavitt M.J., Spector T.D., Carter N.D., et al. Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population. Diabetologia. 2006, 49(November (11)):2659-2667.
106. Jones M.R., Wilson S.G., Mullin B.H., Mead R., Dudbridge F., Watts G.F., et al. Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome. Fertil Steril. 2008, 90(December(6)):2298-2303.
107. Schumann G., Johann M., Frank J., Preuss U., Dahmen N., Laucht M., et al. Systematic analysis of glutamatergic neurotransmission genes in alcohol dependence and adolescent risky drinking behavior. Arch. Gen. Psychiatry. 2008, 65(July(7)):826-838.
108. Feng X., Tucker K.L., Parnell L.D., Shen J., Lee Y.C., Ordovas J.M., et al. Insulin receptor substrate 1 (IRS1) variants confer risk of diabetes in the Boston Puerto Rican Health Study. Asia Pac. J. Clin. Nutr. 2013, 22(1):150-159.
109. Neuhausen S.L., Brummel S., Ding Y.C., Singer C.F., Pfeiler G., Lynch H.T., et al. Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers. Breast Cancer Res. 2009, 11(5):R76.
110. Winder T., Giamas G., Wilson P.M., Zhang W., Yang D., Bohanes P., et al. Insulin-like growth factor receptor polymorphism defines clinical outcome in estrogen receptor-positive breast cancer patients treated with tamoxifen. Pharmacogenomics J. 2014, 14(February (1)):28-34.
111. Schosser A., Gaysina D., Cohen-Woods S., Chow P.C., Martucci L., Craddock N., et al. Association of DISC1 and TSNAX genes and affective disorders in the depression case-control (DeCC) and bipolar affective case-control (BACCS) studies. Mol. Psychiatry. 2010, 15(August (8)):844-849.
112. Concannon P., Haile R.W., Borresen-Dale A.L., Rosenstein B.S., Gatti R.A., Teraoka S.N., et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res. 2008, 68(August (16)):6486-6491.
113. Pfister E.L., Kennington L., Straubhaar J., Wagh S., Liu W., DiFiglia M., et al. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr. Biol. 2009, 19(May(9)):774-778.
114. van Bilsen P.H., Jaspers L., Lombardi M.S., Odekerken J.C., Burright E.N., Kaemmerer W.F. Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts. Hum. Gene. Ther. 2008, 19(July(7)):710-719.
115. Koolen D.A., Kramer J.M., Neveling K., Nillesen W.M., Moore-Barton H.L., Elmslie F.V., et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat. Genet. 2012, 44(June(6)):639-641.
116. Howarth K., Ranta S., Winter E., Teixeira A., Schaschl H., Harvey J.J., et al. A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk. BMC. Med. Genet. 2009, 10:54.
117. Bergholdt R., Nerup J., Pociot F. Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes. J. Med. Genet. 2005, 42(January(1)):17-25.