Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women.

Dakshinamoorthy, J; Jain, Pritesh R; Ramamoorthy, Thilagavathi; Ayyappan, Rajapriya; Balasundaram, Usha

Dakshinamoorthy, J; Jain, Pritesh R; Ramamoorthy, Thilagavathi; Ayyappan, Rajapriya; Balasundaram, Usha.

Afiliación

Dakshinamoorthy J; Department of Genetic Engineering, School of Bio - Engineering, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu 603203, India.
Jain PR; Department of Genetic Engineering, School of Bio - Engineering, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu 603203, India; Department of Biology, Purdue University, IN 47907, USA.
Ramamoorthy T; School of Public Health, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu 603 203, India.
Ayyappan R; Om Fertility Centre, Perambur, Chennai, Tamil Nadu 600011, India.
Balasundaram U; Department of Genetic Engineering, School of Bio - Engineering, SRM Institute of Science and Technology, Kattankulathur, Tamil Nadu 603203, India. Electronic address: sundaram.usha@gmail.com.

Int J Biol Macromol ; 144: 663-670, 2020 Feb 01.

Article en En | MEDLINE | ID: mdl-31837364

RESUMEN

Polycystic ovary syndrome (PCOS), a gynaecological endocrine disorder affects 9% of Indian women and is linked to type II diabetes. The association of INSR (INSulin Receptor gene) variants (rs2059807 and rs1799817) with PCOS was established through genome-wide association studies, yet requires validation for the Indian population. This case-control study included 253 PCOS women and 308 age-matched control. The minor allele frequency of rs2059807 had an odds ratio of 13.5 and that of rs1799817 was 11.8. The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL - C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns. The rs1799817 polymorphism cohort had elevated levels of serum insulin [17.99 ± 11.6 mIU/mL vs 11.67 ± 6.63 mIU/mL], blood glucose [199.15 ± 63.72 mg/dL vs 96.6 ± 24.3 mg/dL], and testosterone [0.91 ± 0.2 nmol/L vs 0.53 ± 0.16 nmol/L] thereby triggering metabolic dysfunction and predisposed to lifestyle disorder. Also, the SNPs were found to be in linkage equilibrium and contributed to the development of PCOS differentially.

Asunto(s)

Antígenos CD/genética; Estudio de Asociación del Genoma Completo/métodos; Síndrome del Ovario Poliquístico/genética; Receptor de Insulina/genética; Adolescente; Adulto; Alelos; Glucemia/metabolismo; Estudios de Casos y Controles; Simulación por Computador; Estradiol/metabolismo; Femenino; Frecuencia de los Genes/genética; Predisposición Genética a la Enfermedad; Genotipo; Humanos; India; Insulina/sangre; Insulina/metabolismo; Lipoproteínas HDL/metabolismo; Persona de Mediana Edad; Mutación/genética; Síndrome del Ovario Poliquístico/etnología; Polimorfismo de Nucleótido Simple

Palabras clave

GWAS; INSR; PCOS; rs1799817; rs2059807

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome del Ovario Poliquístico / Receptor de Insulina / Antígenos CD / Estudio de Asociación del Genoma Completo Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Female / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: Int J Biol Macromol Año: 2020 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos

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