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PARP Gene Variants and Male Infertility: A Genetic Prescriptive From a North-Indian Cohort
Bhawani Sharma1, Ruchi Shah1, Raju Shankarayan1
1School of Biotechnology, Shri Mata Vaishno Devi University, Katra, India.
Genetic variants in PARP14 and PARP15 genes are linked to male infertility risk in North India. Specific PARP14 variants increase risk, while PARP15 variants show a protective effect, highlighting DNA repair
Area of Science:
- Genetics and Reproductive Biology
- Molecular Mechanisms of Infertility
- Population Genetics in South Asia
Background:
- Male infertility affects a significant portion of the reproductive-aged population globally.
- Poly (ADP-ribose) polymerase (PARP) family genes are crucial for DNA repair, a process vital for spermatogenesis.
- Limited research exists on the genetic underpinnings of male infertility in South Asian populations.
Purpose of the Study:
- To investigate the association between specific gene variants in PARP14 (rs11719086) and PARP15 (rs12489170) and the risk of male infertility.
- To explore the role of DNA repair gene polymorphisms in spermatogenesis.
- To provide insights into region-specific genetic factors influencing male fertility in North India.
Main Methods:
- A case-control study involving 222 infertile men and 360 fertile controls from Jammu and Kashmir, North India.
- Genotyping of single nucleotide polymorphisms (SNPs) PARP14 rs11719086 and PARP15 rs12489170 using TaqMan allelic discrimination assay.
- Statistical analysis employing multivariable logistic regression, adjusting for age, BMI, smoking, and alcohol use.
Main Results:
- The PARP14 rs11719086 variant showed a strong association with increased male infertility risk (OR = 4.41, p = 3.76×10-13) under the dominant model.
- The PARP15 rs12489170 variant demonstrated a moderate protective effect against male infertility (OR = 0.579, p = 0.006) under the dominant model.
- These findings suggest distinct roles for PARP14 and PARP15 in male reproductive health.
Conclusions:
- This study is the first to link PARP14 and PARP15 gene variants to male infertility in North India.
- The results underscore the importance of DNA repair pathways in successful spermatogenesis.
- Further validation in larger cohorts is recommended to confirm these findings and explore their clinical utility for predictive diagnostics and tailored treatments in South Asian populations.
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