Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India

Kaur, Ratneev; Kaur, Tajinder; Sudhir, Neha; Kaur, Anupam

doi:10.1007/s43032-021-00676-2

Cited by 11 publications

(7 citation statements)

References 35 publications

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“…Similar findings were reported by Dasgupta and Reddy in South Indian PCOS females (P＜0.001) [13]. In our previous studies also BMI was found to be positively related with PCOS [29,30].…”

Section: Discussionsupporting

confidence: 91%

Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

Kaur

Singh

et al. 2022

Korean J Clin Lab Sci

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Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms.Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

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“…Similar findings were reported by Dasgupta and Reddy in South Indian PCOS females (P＜0.001) [13]. In our previous studies also BMI was found to be positively related with PCOS [29,30].…”

Section: Discussionsupporting

confidence: 91%

Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

Kaur

Singh

et al. 2022

Korean J Clin Lab Sci

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“…Present results are in line with few previous studies related to PCOS in North Indian females which might be due to consumption of high calorie diet, junk food, physical inactivity and sedentary lifestyle occurring as a result of professional and westernized lifestyle of women in different parts of India. [26][27][28][29] On the other hand, according to few studies done in Tanzania, China and Pakistan, non-significant differences were observed for overweight and obesity among PCOS cases and controls. [30][31][32] This might be due to differences in diet and lifestyle in these countries in comparison to North India.…”

Section: Discussionmentioning

confidence: 99%

Role of proinflammatory cytokines TNF-α (rs1800629) and IL-6 (rs1800795) in the pathogenesis of polycystic ovarian syndrome in North Indian females

Kaur,

Kaur

2024

Int J Reprod Contracept Obstet Gynecol

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Background: This study aimed to determine whether TNF-α and IL-6 gene polymorphism, their epistatic effects and haplotypes confer pathogenesis of PCOS in north Indian females. Methods: A case-control study comprising DNA samples of 401 females (200 PCOS cases and 201 controls) of reproductive age. All the subjects were genotyped for TNF-α (-308 G/A) and IL-6 (-174 G/C) genes by tetra-primer ARMS PCR. Results: There were 41.5% PCOS females revealing hirsutism, 45.5% acne and 36% alopecia. High BMI (p=0.008) and W/H ratio (p=0.0001) was observed among PCOS cases. Frequency of minor allele A for -308 G/A TNF-α was significantly higher in PCOS cases than controls indicating 1.4 fold increased risk for PCOS (p=0.05, OR=1.41, 95% CI=1.00-1.99). -174 G/C IL-6 gene was in association with the decreased risk of PCOS. The epistatic effects of all the possible combinations of both the SNPs shows statistically significant differences (Interaction p value=0.014) indicating modulating effects of TNF-α and IL-6 polymorphism in response to PCOS. Haplotype HT3 AG (p=0.003, OR=2.22, 95% CI=1.31-3.78) was associated with increased risk of PCOS. Conclusions: The present findings suggest that TNF-α and IL-6 might contribute to pathogenesis of PCOS in north Indian females irrespective of a polymorphism of TNF-α (-308 G/A) and IL-6 (-174 G/C) genes.

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“…Mitochondrial cytochrome CYP11A1 is the only known enzyme that can cleave the side-chain of cholesterol to produce pregnenolone. Pregnenolone is the precursor of all steroid hormones, which are vital to life [ 42 ]. CYP11A1 is one of four enzymes in vertebrates ( CYP7A1 , CYP27A1 , CYP46A1, and CYP11A1 ).…”

Section: Discussionmentioning

confidence: 99%

Dibutyl Phthalate Adsorbed on Multiwalled Carbon Nanotubes Causes Fetal Developmental Toxicity in Balb/C Mice

Qin

Peng

et al. 2023

Toxics

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This study investigated whether using multiwalled carbon nanotubes (MWCNTs) as a carrier for dibutyl phthalate (DBP) could delay the degradation rate of DBP in mice and increase its estrogen-like interference effect. Pregnant Balb/C mice were divided into four groups and exposed to different treatments via tail-vein injection every 3 days until gestational day 20. The female and male mice were then sacrificed for toxicological study. The results showed that the combination of MWCNTs and DBP resulted in a higher fetal mortality rate than if the mice were exposed to MWCNTs or DBP alone. H&E staining showed that the estrous period of the exposed mice was delayed, the development of oocytes was blocked in the combination group, the number of spermatogenic cells decreased, and the quality of sperm decreased. Our experiment showed that the expression levels of the genes involved in sex hormone synthesis in the testis and ovaries were significantly increased after combined treatment compared with the MWCNT group (p < 0.01). The study suggests that DBP degradation is delayed when absorbed on MWCNTs, which increases its estrogen-like interference and interferes with fetal development, ultimately leading to increased fetal mortality.

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Association Analysis of CYP11A1 Variants with Polycystic Ovary Syndrome: a Case-Control Study from North India

Cited by 11 publications

References 35 publications

Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

Role of proinflammatory cytokines TNF-α (rs1800629) and IL-6 (rs1800795) in the pathogenesis of polycystic ovarian syndrome in North Indian females

Dibutyl Phthalate Adsorbed on Multiwalled Carbon Nanotubes Causes Fetal Developmental Toxicity in Balb/C Mice

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