BACKGROUND: Polycystic ovary syndrome (PCOS) is a condition with central feature of hyperandrogensism that affects 5-12 % of women worldwide. P450sec the cholesterol side chain cleavage enzyme encoded by CYP11A1 gene is instrumental in the synthesis of sex hormones. A promoter pentanucleotide repeat (tttta)(n) polymorphism of this gene is reported to be associated with several hormone related diseases including PCOS. Here we aimed to examine the involvement of CYP11A1 polymorphism with PCOS susceptibility in a case-control study conducted among South Indian women. METHODS: A total of 542 subjects comprised of 267 PCOS patients and 275 controls were recruited. DNA was extracted from blood and CYP11A1 (tttta)(n) polymorphism was genotyped by PCR-PAGE. RESULTS: Fifteen different alleles ranging between 2-16 repeats were identified in the studied group and the most frequent allele observed in controls was of 8 repeats. The presence of >8 repeat allele was common in patients (64 % vs. 38 %) and showed a three-fold risk for PCOS susceptibility than controls (OR = 2.93; p < 0.05). PCOS women with higher BMI were markedly elevated in early quartile (p < 0.05). CONCLUSION: CYP11A1 (tttta)(n) repeat polymorphism appeared to be a potential molecular marker for PCOS risk in our population. Gene-gene and gene-environmental interactions with respect to obesity may play a role in the early onset of this multifactorial condition. This is the first report from South India; however, replicative studies considering other probable causative factors for PCOS risk are warranted.
BACKGROUND:Polycystic ovary syndrome (PCOS) is a condition with central feature of hyperandrogensism that affects 5-12 % of women worldwide. P450sec the cholesterol side chain cleavage enzyme encoded by CYP11A1 gene is instrumental in the synthesis of sex hormones. A promoter pentanucleotide repeat (tttta)(n) polymorphism of this gene is reported to be associated with several hormone related diseases including PCOS. Here we aimed to examine the involvement of CYP11A1 polymorphism with PCOS susceptibility in a case-control study conducted among South Indian women. METHODS: A total of 542 subjects comprised of 267 PCOSpatients and 275 controls were recruited. DNA was extracted from blood and CYP11A1 (tttta)(n) polymorphism was genotyped by PCR-PAGE. RESULTS: Fifteen different alleles ranging between 2-16 repeats were identified in the studied group and the most frequent allele observed in controls was of 8 repeats. The presence of >8 repeat allele was common in patients (64 % vs. 38 %) and showed a three-fold risk for PCOS susceptibility than controls (OR = 2.93; p < 0.05). PCOSwomen with higher BMI were markedly elevated in early quartile (p < 0.05). CONCLUSION:CYP11A1 (tttta)(n) repeat polymorphism appeared to be a potential molecular marker for PCOS risk in our population. Gene-gene and gene-environmental interactions with respect to obesity may play a role in the early onset of this multifactorial condition. This is the first report from South India; however, replicative studies considering other probable causative factors for PCOS risk are warranted.
Authors: Veronica Wendy Setiawan; Iona Cheng; Daniel O Stram; Elena Giorgi; Malcolm C Pike; David Van Den Berg; Loreall Pooler; Noel P Burtt; Loic Le Marchand; David Altshuler; Joel Hirschhorn; Brian E Henderson; Christopher A Haiman Journal: Cancer Res Date: 2006-12-15 Impact factor: 12.701
Authors: M L N Deepika; K Ranjith Reddy; V Usha Rani; N Balakrishna; K Prasanna Latha; Parveen Jahan Journal: J Assist Reprod Genet Date: 2012-12-12 Impact factor: 3.412
Authors: Lori C Sakoda; Christie Blackston; Jennifer A Doherty; Roberta M Ray; Ming Gang Lin; Helge Stalsberg; Dao Li Gao; Ziding Feng; David B Thomas; Chu Chen Journal: Cancer Epidemiol Biomarkers Prev Date: 2008-05 Impact factor: 4.254
Authors: Mohammad Ashraf Ganie; Vishnu Vasudevan; Imtiyaz Ahmad Wani; Mohammad Salem Baba; Tasleem Arif; Aafia Rashid Journal: Indian J Med Res Date: 2019-10 Impact factor: 2.375