A Square Peg in a Round Hole: The Isolated Chitrali Population Displays the Lowest Consanguinity Rate in Pakistan

Pakistan is among the countries with the highest prevalence of consanguineous unions, with reported rates ranging between 55% and 65%. This high level of consanguinity contributes significantly to the burden of recessive genetic disorders. The Chitrali population, an isolated community residing in the Hindu Kush mountains of northwestern Pakistan, exhibits distinct genetic and cultural characteristics. This study aimed to assess the prevalence and patterns of consanguineous unions within this population. A random sample of 993 individuals from Chitral was recruited between January 2023 and December 2024 through visits to public venues and household surveys. The consanguinity rate and inbreeding coefficient were calculated, and their associations with various biodemographic variables were analyzed. Descriptive statistics and logistic regression models were employed for data analysis. The overall consanguinity rate was found to be 12%, with an estimated inbreeding coefficient of 0.0052. Interestingly, consanguinity showed a trend toward higher prevalence with increased literacy and exhibited a positive association with higher socioeconomic status. The Chitrali population exhibits the lowest reported rate of consanguinity among Pakistani populations. This community has retained diverse marital practices that differ markedly from those of neighboring populations. Contributing factors to the low consanguinity rate may include geographic isolation, low population density, family structures that discourage intrahousehold cousin marriages, and minimal tribal conflict or land-related disputes. These dynamics suggest that, despite its genetic distinctiveness, the Chitrali population may have a lower burden of the recessive disorders commonly observed in more inbred populations across Pakistan.